Incidental Mutation 'R9791:Tcf4'
| ID |
734650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf4
|
| Ensembl Gene |
ENSMUSG00000053477 |
| Gene Name |
transcription factor 4 |
| Synonyms |
SEF2-1, TFE, E2.2, MITF-2A, 5730422P05Rik, MITF-2B, bHLHb19, ME2, ASP-I2, SEF-2, ITF-2b, ITF-2, E2-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9791 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69770007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 275
(Y275F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000145918]
[ENSMUST00000200703]
[ENSMUST00000200813]
[ENSMUST00000200862]
[ENSMUST00000200921]
[ENSMUST00000200966]
[ENSMUST00000201037]
[ENSMUST00000201091]
[ENSMUST00000201094]
[ENSMUST00000201124]
[ENSMUST00000201181]
[ENSMUST00000201205]
[ENSMUST00000201235]
[ENSMUST00000201288]
[ENSMUST00000201410]
[ENSMUST00000201627]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000201964]
[ENSMUST00000202057]
[ENSMUST00000202116]
[ENSMUST00000202350]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202474]
[ENSMUST00000202477]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202751]
[ENSMUST00000202765]
[ENSMUST00000202772]
[ENSMUST00000202937]
[ENSMUST00000207214]
[ENSMUST00000209116]
[ENSMUST00000209174]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066717
AA Change: Y275F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
AA Change: Y275F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
244 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
564 |
N/A |
INTRINSIC |
|
HLH
|
595 |
648 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078486
AA Change: Y253F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
AA Change: Y253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
HLH
|
573 |
626 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114977
AA Change: Y94F
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110628
Gene: ENSMUSG00000053477
AA Change: Y94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
HLH
|
410 |
463 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114978
AA Change: Y94F
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110629
Gene: ENSMUSG00000053477
AA Change: Y94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
383 |
N/A |
INTRINSIC |
|
HLH
|
414 |
467 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114980
AA Change: Y253F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
AA Change: Y253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
545 |
N/A |
INTRINSIC |
|
HLH
|
569 |
622 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114982
AA Change: Y253F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
AA Change: Y253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
545 |
N/A |
INTRINSIC |
|
HLH
|
569 |
622 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114985
AA Change: Y253F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
AA Change: Y253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
HLH
|
573 |
626 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145918
AA Change: Y38F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144298
Gene: ENSMUSG00000053477
AA Change: Y38F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200703
AA Change: Y38F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144583
Gene: ENSMUSG00000053477
AA Change: Y38F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200813
|
| SMART Domains |
Protein: ENSMUSP00000144397
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200862
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144338
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200921
AA Change: Y38F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143892
Gene: ENSMUSG00000053477
AA Change: Y38F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200966
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144045
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201037
|
| SMART Domains |
Protein: ENSMUSP00000144488
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201091
AA Change: Y94F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144386
Gene: ENSMUSG00000053477
AA Change: Y94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201094
AA Change: Y124F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144169
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
HLH
|
440 |
493 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201124
AA Change: Y176F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144080
Gene: ENSMUSG00000053477
AA Change: Y176F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
145 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201181
|
| SMART Domains |
Protein: ENSMUSP00000144376
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201205
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144273
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
413 |
N/A |
INTRINSIC |
|
HLH
|
444 |
497 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201410
AA Change: Y124F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000143950
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
HLH
|
440 |
493 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201627
|
| SMART Domains |
Protein: ENSMUSP00000144649
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201631
AA Change: Y229F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000144285
Gene: ENSMUSG00000053477
AA Change: Y229F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
521 |
N/A |
INTRINSIC |
|
HLH
|
545 |
598 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201781
AA Change: Y229F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144209
Gene: ENSMUSG00000053477
AA Change: Y229F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201964
AA Change: Y38F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144070
Gene: ENSMUSG00000053477
AA Change: Y38F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202057
AA Change: Y124F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144647
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
HLH
|
440 |
493 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202116
AA Change: Y253F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144512
Gene: ENSMUSG00000053477
AA Change: Y253F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
545 |
N/A |
INTRINSIC |
|
HLH
|
569 |
622 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202350
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144154
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202354
AA Change: Y229F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144646
Gene: ENSMUSG00000053477
AA Change: Y229F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
520 |
N/A |
INTRINSIC |
|
HLH
|
544 |
597 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202435
AA Change: Y229F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144407
Gene: ENSMUSG00000053477
AA Change: Y229F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202458
AA Change: Y174F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143875
Gene: ENSMUSG00000053477
AA Change: Y174F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
143 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
|
HLH
|
490 |
543 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202474
AA Change: Y94F
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000143820
Gene: ENSMUSG00000053477
AA Change: Y94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
HLH
|
410 |
463 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202477
AA Change: Y124F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144219
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
416 |
N/A |
INTRINSIC |
|
HLH
|
440 |
493 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202610
AA Change: Y193F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144670
Gene: ENSMUSG00000053477
AA Change: Y193F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
HLH
|
513 |
566 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202674
AA Change: Y228F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144221
Gene: ENSMUSG00000053477
AA Change: Y228F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
520 |
N/A |
INTRINSIC |
|
HLH
|
544 |
597 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202751
AA Change: Y94F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144064
Gene: ENSMUSG00000053477
AA Change: Y94F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202765
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144332
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202772
AA Change: Y193F
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143987
Gene: ENSMUSG00000053477
AA Change: Y193F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
162 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
485 |
N/A |
INTRINSIC |
|
HLH
|
509 |
562 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202937
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000143857
Gene: ENSMUSG00000053477
AA Change: Y124F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
413 |
N/A |
INTRINSIC |
|
HLH
|
444 |
497 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209174
AA Change: Y124F
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,748,604 (GRCm39) |
Y312H |
probably damaging |
Het |
| Abcc10 |
A |
T |
17: 46,633,185 (GRCm39) |
I549N |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,486,395 (GRCm39) |
Y134H |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,596,425 (GRCm39) |
D417G |
probably benign |
Het |
| Apol11b |
T |
A |
15: 77,519,475 (GRCm39) |
I202F |
probably benign |
Het |
| Arap1 |
C |
A |
7: 101,037,376 (GRCm39) |
Q468K |
probably benign |
Het |
| Arhgef4 |
T |
C |
1: 34,832,445 (GRCm39) |
|
probably null |
Het |
| Asap3 |
A |
T |
4: 135,961,914 (GRCm39) |
N285I |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,408,375 (GRCm39) |
I2421F |
probably damaging |
Het |
| Banp |
C |
A |
8: 122,701,285 (GRCm39) |
D17E |
probably benign |
Het |
| Bsx |
T |
G |
9: 40,788,905 (GRCm39) |
V154G |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 97,900,186 (GRCm39) |
D324G |
probably damaging |
Het |
| Ccdc170 |
A |
T |
10: 4,483,957 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
T |
C |
2: 26,171,227 (GRCm39) |
H417R |
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,949,070 (GRCm39) |
M272K |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,760,417 (GRCm39) |
E2054G |
possibly damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,844,584 (GRCm39) |
S127T |
possibly damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,376,027 (GRCm39) |
H1504L |
probably benign |
Het |
| Cyp4a29 |
T |
A |
4: 115,108,380 (GRCm39) |
M368K |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,326,267 (GRCm39) |
F527L |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,387,739 (GRCm39) |
V154A |
probably damaging |
Het |
| Frem3 |
G |
A |
8: 81,339,890 (GRCm39) |
E728K |
probably benign |
Het |
| Gemin5 |
G |
A |
11: 58,020,846 (GRCm39) |
Q1114* |
probably null |
Het |
| Gm11567 |
C |
T |
11: 99,770,274 (GRCm39) |
R71C |
unknown |
Het |
| Gm13272 |
T |
C |
4: 88,698,442 (GRCm39) |
V119A |
probably benign |
Het |
| Gpc6 |
T |
A |
14: 117,163,435 (GRCm39) |
C30S |
probably damaging |
Het |
| Gprc6a |
A |
C |
10: 51,491,395 (GRCm39) |
F785V |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,494,693 (GRCm39) |
V368A |
probably benign |
Het |
| Hsd17b4 |
G |
A |
18: 50,324,907 (GRCm39) |
|
probably null |
Het |
| Il17ra |
C |
T |
6: 120,459,240 (GRCm39) |
S797F |
probably damaging |
Het |
| Jmjd6 |
A |
G |
11: 116,733,438 (GRCm39) |
S80P |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,346,995 (GRCm39) |
N53K |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,282,089 (GRCm39) |
P230L |
probably benign |
Het |
| Marchf1 |
C |
A |
8: 66,729,339 (GRCm39) |
A46E |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,890,705 (GRCm39) |
T1050A |
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,355,049 (GRCm39) |
N459S |
probably benign |
Het |
| Mtfr1l |
A |
G |
4: 134,258,063 (GRCm39) |
V53A |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,025,992 (GRCm39) |
E1326V |
|
Het |
| Myh3 |
A |
G |
11: 66,992,005 (GRCm39) |
E1850G |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,925 (GRCm39) |
D1492G |
unknown |
Het |
| Myo3b |
C |
A |
2: 70,180,287 (GRCm39) |
H1219Q |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,646,605 (GRCm39) |
Q1379L |
probably null |
Het |
| Or8g30 |
C |
T |
9: 39,230,815 (GRCm39) |
V32I |
probably benign |
Het |
| Or9q1 |
A |
G |
19: 13,804,914 (GRCm39) |
I282T |
probably benign |
Het |
| Osbpl6 |
T |
G |
2: 76,385,361 (GRCm39) |
L265R |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,734,862 (GRCm39) |
T440A |
probably damaging |
Het |
| Prr14 |
T |
C |
7: 127,071,128 (GRCm39) |
M1T |
probably null |
Het |
| Ptger4 |
A |
T |
15: 5,273,178 (GRCm39) |
M1K |
probably null |
Het |
| Ptpn22 |
A |
T |
3: 103,795,842 (GRCm39) |
T608S |
possibly damaging |
Het |
| S1pr2 |
A |
G |
9: 20,879,319 (GRCm39) |
W170R |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,066,603 (GRCm39) |
I17M |
probably benign |
Het |
| Spmap1 |
T |
A |
11: 97,666,594 (GRCm39) |
I31F |
probably benign |
Het |
| Sptbn4 |
C |
G |
7: 27,071,662 (GRCm39) |
G1601R |
probably damaging |
Het |
| Sqor |
C |
T |
2: 122,626,912 (GRCm39) |
P11L |
probably benign |
Het |
| Stac2 |
T |
C |
11: 97,934,449 (GRCm39) |
D85G |
probably benign |
Het |
| Svs5 |
G |
A |
2: 164,078,918 (GRCm39) |
Q330* |
probably null |
Het |
| Taar7e |
A |
G |
10: 23,913,554 (GRCm39) |
I15V |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,538,046 (GRCm39) |
N1873S |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,648 (GRCm39) |
V133D |
probably benign |
Het |
| Tfap2a |
T |
A |
13: 40,870,658 (GRCm39) |
N410I |
probably damaging |
Het |
| Tjp3 |
A |
T |
10: 81,109,694 (GRCm39) |
D836E |
probably benign |
Het |
| Tox3 |
A |
T |
8: 90,975,206 (GRCm39) |
M475K |
unknown |
Het |
| Traf4 |
A |
T |
11: 78,050,979 (GRCm39) |
D392E |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,181,825 (GRCm39) |
L338P |
probably damaging |
Het |
| Vmn1r81 |
T |
C |
7: 11,994,113 (GRCm39) |
N165S |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,409 (GRCm39) |
V413E |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 63,911,059 (GRCm39) |
D817V |
probably damaging |
Het |
| Zbtb38 |
G |
A |
9: 96,570,700 (GRCm39) |
S128L |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,464,922 (GRCm39) |
H1718Q |
probably damaging |
Het |
| Zfp945 |
G |
A |
17: 23,071,228 (GRCm39) |
H245Y |
probably benign |
Het |
|
| Other mutations in Tcf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Tcf4
|
APN |
18 |
69,788,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02131:Tcf4
|
APN |
18 |
69,697,697 (GRCm39) |
splice site |
probably benign |
|
|
IGL02221:Tcf4
|
APN |
18 |
69,480,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Tcf4
|
APN |
18 |
69,697,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Tcf4
|
APN |
18 |
69,776,093 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02637:Tcf4
|
APN |
18 |
69,480,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Tcf4
|
APN |
18 |
69,784,283 (GRCm39) |
splice site |
probably benign |
|
|
R0374:Tcf4
|
UTSW |
18 |
69,814,883 (GRCm39) |
splice site |
probably benign |
|
|
R1265:Tcf4
|
UTSW |
18 |
69,776,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1739:Tcf4
|
UTSW |
18 |
69,776,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Tcf4
|
UTSW |
18 |
69,790,924 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4703:Tcf4
|
UTSW |
18 |
69,790,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Tcf4
|
UTSW |
18 |
69,697,226 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4993:Tcf4
|
UTSW |
18 |
69,814,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Tcf4
|
UTSW |
18 |
69,775,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Tcf4
|
UTSW |
18 |
69,598,501 (GRCm39) |
missense |
probably benign |
|
|
R5634:Tcf4
|
UTSW |
18 |
69,769,918 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6337:Tcf4
|
UTSW |
18 |
69,766,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Tcf4
|
UTSW |
18 |
69,790,873 (GRCm39) |
missense |
probably null |
1.00 |
|
R6868:Tcf4
|
UTSW |
18 |
69,790,721 (GRCm39) |
splice site |
probably null |
|
|
R6907:Tcf4
|
UTSW |
18 |
69,785,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Tcf4
|
UTSW |
18 |
69,766,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Tcf4
|
UTSW |
18 |
69,790,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Tcf4
|
UTSW |
18 |
69,480,249 (GRCm39) |
splice site |
probably null |
|
|
R7589:Tcf4
|
UTSW |
18 |
69,815,890 (GRCm39) |
makesense |
probably null |
|
|
R7606:Tcf4
|
UTSW |
18 |
69,776,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7796:Tcf4
|
UTSW |
18 |
69,697,140 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8193:Tcf4
|
UTSW |
18 |
69,633,994 (GRCm39) |
start gained |
probably benign |
|
|
R8461:Tcf4
|
UTSW |
18 |
69,598,501 (GRCm39) |
missense |
probably benign |
|
|
R8746:Tcf4
|
UTSW |
18 |
69,654,572 (GRCm39) |
unclassified |
probably benign |
|
|
R8900:Tcf4
|
UTSW |
18 |
69,697,761 (GRCm39) |
splice site |
probably benign |
|
|
R9095:Tcf4
|
UTSW |
18 |
69,598,464 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9278:Tcf4
|
UTSW |
18 |
69,766,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Tcf4
|
UTSW |
18 |
69,652,944 (GRCm39) |
unclassified |
probably benign |
|
|
R9633:Tcf4
|
UTSW |
18 |
69,726,382 (GRCm39) |
intron |
probably benign |
|
|
R9756:Tcf4
|
UTSW |
18 |
69,790,830 (GRCm39) |
nonsense |
probably null |
|
|
R9790:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tcf4
|
UTSW |
18 |
69,726,451 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAACGGGAGGTTATTTTCAAG -3'
(R):5'- GGTTTACAGAGGTGATCCGC -3'
Sequencing Primer
(F):5'- AACGGGAGGTTATTTTCAAGTATAGG -3'
(R):5'- TGCGTACACACAGAGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation