Incidental Mutation 'R4703:Tcf4'
| ID |
356251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcf4
|
| Ensembl Gene |
ENSMUSG00000053477 |
| Gene Name |
transcription factor 4 |
| Synonyms |
MITF-2B, ITF-2, MITF-2A, ME2, SEF2-1, 5730422P05Rik, ASP-I2, SEF-2, bHLHb19, TFE, E2.2, ITF-2b, E2-2 |
| MMRRC Submission |
041951-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4703 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
69343356-69689079 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69657910 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 307
(Y307C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000200703]
[ENSMUST00000200862]
[ENSMUST00000201037]
[ENSMUST00000201091]
[ENSMUST00000201094]
[ENSMUST00000201205]
[ENSMUST00000201410]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000202057]
[ENSMUST00000202116]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202474]
[ENSMUST00000202477]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202772]
[ENSMUST00000202937]
[ENSMUST00000209116]
[ENSMUST00000202751]
[ENSMUST00000201964]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066717
AA Change: Y458C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
AA Change: Y458C
| 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 damaging
Transcript: ENSMUST00000078486
AA Change: Y436C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
AA Change: Y436C
| 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 damaging
Transcript: ENSMUST00000114977
AA Change: Y277C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110628
Gene: ENSMUSG00000053477
AA Change: Y277C
| 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 damaging
Transcript: ENSMUST00000114978
AA Change: Y277C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110629
Gene: ENSMUSG00000053477
AA Change: Y277C
| 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 damaging
Transcript: ENSMUST00000114980
AA Change: Y436C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
AA Change: Y436C
| 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 damaging
Transcript: ENSMUST00000114982
AA Change: Y436C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
AA Change: Y436C
| 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 damaging
Transcript: ENSMUST00000114985
AA Change: Y436C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
AA Change: Y436C
| 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: ENSMUST00000200703
|
| SMART Domains |
Protein: ENSMUSP00000144583
Gene: ENSMUSG00000053477
| 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 damaging
Transcript: ENSMUST00000200862
AA Change: Y307C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144338
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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 damaging
Transcript: ENSMUST00000201037
AA Change: Y197C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144488
Gene: ENSMUSG00000053477
AA Change: Y197C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201081
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201091
|
| SMART Domains |
Protein: ENSMUSP00000144386
Gene: ENSMUSG00000053477
| 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 damaging
Transcript: ENSMUST00000201094
AA Change: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144169
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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: ENSMUST00000201205
AA Change: Y307C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144273
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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 damaging
Transcript: ENSMUST00000201410
AA Change: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143950
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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: ENSMUST00000201631
AA Change: Y412C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144285
Gene: ENSMUSG00000053477
AA Change: Y412C
| 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 damaging
Transcript: ENSMUST00000201781
AA Change: Y412C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144209
Gene: ENSMUSG00000053477
AA Change: Y412C
| 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 damaging
Transcript: ENSMUST00000202057
AA Change: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144647
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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: ENSMUST00000202116
AA Change: Y436C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144512
Gene: ENSMUSG00000053477
AA Change: Y436C
| 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 damaging
Transcript: ENSMUST00000202354
AA Change: Y411C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144646
Gene: ENSMUSG00000053477
AA Change: Y411C
| 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 damaging
Transcript: ENSMUST00000202435
AA Change: Y412C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144407
Gene: ENSMUSG00000053477
AA Change: Y412C
| 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 damaging
Transcript: ENSMUST00000202458
AA Change: Y357C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143875
Gene: ENSMUSG00000053477
AA Change: Y357C
| 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 damaging
Transcript: ENSMUST00000202474
AA Change: Y277C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143820
Gene: ENSMUSG00000053477
AA Change: Y277C
| 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 damaging
Transcript: ENSMUST00000202477
AA Change: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144219
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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 |
possibly damaging
Transcript: ENSMUST00000202610
AA Change: Y376C
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144670
Gene: ENSMUSG00000053477
AA Change: Y376C
| 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: Y411C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144221
Gene: ENSMUSG00000053477
AA Change: Y411C
| 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: ENSMUST00000202772
AA Change: Y376C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143987
Gene: ENSMUSG00000053477
AA Change: Y376C
| 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 damaging
Transcript: ENSMUST00000202937
AA Change: Y307C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143857
Gene: ENSMUSG00000053477
AA Change: Y307C
| 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 |
noncoding transcript
Transcript: ENSMUST00000201157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202751
|
| SMART Domains |
Protein: ENSMUSP00000144064
Gene: ENSMUSG00000053477
| 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: ENSMUST00000201964
|
| SMART Domains |
Protein: ENSMUSP00000144070
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7404 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
97% (98/101) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
T |
A |
13: 59,689,528 |
T248S |
possibly damaging |
Het |
| AA986860 |
T |
C |
1: 130,743,355 |
V438A |
probably benign |
Het |
| Adam25 |
G |
T |
8: 40,754,126 |
C143F |
probably damaging |
Het |
| Aox2 |
T |
A |
1: 58,358,957 |
F1286I |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,756,250 |
T10A |
probably benign |
Het |
| Arhgap5 |
C |
T |
12: 52,517,583 |
P446S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,002,310 |
N1327S |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,532,362 |
D110G |
probably benign |
Het |
| Ascc1 |
A |
G |
10: 60,049,802 |
Y225C |
probably damaging |
Het |
| Aspscr1 |
A |
T |
11: 120,688,945 |
K39N |
possibly damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,167,525 |
V172F |
possibly damaging |
Het |
| B4galt1 |
A |
G |
4: 40,823,569 |
V174A |
probably benign |
Het |
| Bcl11a |
C |
A |
11: 24,163,725 |
A356E |
possibly damaging |
Het |
| Bri3bp |
C |
T |
5: 125,451,766 |
L110F |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,654,463 |
D1231G |
probably damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,033,670 |
I430F |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,776,095 |
|
probably benign |
Het |
| Crbn |
T |
A |
6: 106,782,922 |
I317F |
possibly damaging |
Het |
| Cyp2d22 |
A |
C |
15: 82,375,917 |
L22R |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,447,317 |
|
probably null |
Het |
| Dnajc12 |
A |
G |
10: 63,386,650 |
|
probably null |
Het |
| Dntt |
T |
A |
19: 41,039,803 |
D179E |
probably benign |
Het |
| Enam |
T |
A |
5: 88,503,791 |
L1053* |
probably null |
Het |
| Epn1 |
T |
A |
7: 5,095,148 |
D319E |
probably damaging |
Het |
| Evpl |
C |
G |
11: 116,222,505 |
R1453P |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,342,321 |
|
probably null |
Het |
| Foxp2 |
A |
T |
6: 15,411,248 |
M542L |
probably benign |
Het |
| Gak |
T |
A |
5: 108,569,877 |
Q1299L |
probably damaging |
Het |
| Galnt5 |
G |
T |
2: 57,998,907 |
R173I |
possibly damaging |
Het |
| Gli1 |
G |
T |
10: 127,330,855 |
P843Q |
possibly damaging |
Het |
| Gm5422 |
G |
T |
10: 31,249,612 |
|
noncoding transcript |
Het |
| Gna14 |
T |
G |
19: 16,598,980 |
V117G |
possibly damaging |
Het |
| Gpr6 |
T |
C |
10: 41,071,041 |
T182A |
probably damaging |
Het |
| Ifi204 |
C |
A |
1: 173,760,361 |
|
probably benign |
Het |
| Ifih1 |
A |
T |
2: 62,598,876 |
L906H |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,480,850 |
|
probably benign |
Het |
| Ighd |
A |
G |
12: 113,416,041 |
|
probably benign |
Het |
| Ighv11-1 |
A |
C |
12: 113,982,002 |
I77R |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,205,606 |
I75F |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,490,702 |
I27K |
probably damaging |
Het |
| Inpp5a |
A |
C |
7: 139,558,923 |
N261T |
probably damaging |
Het |
| Ints8 |
T |
G |
4: 11,223,785 |
Q686P |
possibly damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,568,320 |
|
probably null |
Het |
| Irf2bp1 |
C |
T |
7: 19,005,571 |
R379C |
possibly damaging |
Het |
| Iws1 |
C |
T |
18: 32,080,013 |
P165S |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,203,957 |
D610G |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,194,610 |
I186F |
probably benign |
Het |
| Limk2 |
C |
A |
11: 3,347,586 |
E329* |
probably null |
Het |
| Nadk |
C |
A |
4: 155,585,227 |
P157T |
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,471,158 |
K1107Q |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,214,063 |
D281E |
probably damaging |
Het |
| Olfml2a |
T |
A |
2: 38,951,238 |
L262Q |
probably damaging |
Het |
| Olfr1294 |
T |
A |
2: 111,537,768 |
I174L |
probably benign |
Het |
| Olfr231 |
A |
G |
1: 174,117,398 |
I206T |
possibly damaging |
Het |
| Olfr371 |
A |
G |
8: 85,230,608 |
T38A |
possibly damaging |
Het |
| Olfr374 |
T |
A |
8: 72,110,200 |
F211L |
probably damaging |
Het |
| Olfr557 |
A |
T |
7: 102,698,270 |
T11S |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,821,924 |
D1048E |
probably damaging |
Het |
| Oxnad1 |
T |
C |
14: 32,095,470 |
W96R |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,450,163 |
D743V |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,676,480 |
|
probably benign |
Het |
| Pcnx |
C |
T |
12: 81,895,164 |
T112I |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,987,273 |
E145G |
possibly damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,355,153 |
K389R |
probably damaging |
Het |
| Pla2g15 |
T |
A |
8: 106,163,059 |
M321K |
probably benign |
Het |
| Pnlip |
T |
A |
19: 58,676,467 |
D242E |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,679,392 |
T1096A |
probably benign |
Het |
| Rims3 |
A |
T |
4: 120,883,297 |
|
probably benign |
Het |
| Rnf219 |
A |
G |
14: 104,506,208 |
L145P |
probably benign |
Het |
| Scfd2 |
T |
A |
5: 74,519,595 |
Q299L |
probably benign |
Het |
| Selplg |
T |
C |
5: 113,819,033 |
D404G |
probably benign |
Het |
| Slc15a5 |
T |
C |
6: 138,055,645 |
D237G |
probably benign |
Het |
| Slc16a12 |
T |
A |
19: 34,674,891 |
H285L |
possibly damaging |
Het |
| Sox2 |
C |
A |
3: 34,650,713 |
R100S |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,500,453 |
C4969Y |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,632,521 |
S37G |
probably damaging |
Het |
| Tbxas1 |
T |
C |
6: 39,083,857 |
|
probably null |
Het |
| Thsd7b |
A |
T |
1: 130,049,909 |
|
probably benign |
Het |
| Tnn |
G |
T |
1: 160,116,245 |
D999E |
possibly damaging |
Het |
| Trmt13 |
C |
A |
3: 116,594,598 |
W63L |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,604,909 |
N915S |
probably benign |
Het |
| Tyrp1 |
T |
A |
4: 80,840,806 |
|
probably null |
Het |
| Uvrag |
A |
T |
7: 98,989,587 |
I315N |
probably damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,471,968 |
*304L |
probably null |
Het |
| Vmn2r59 |
T |
A |
7: 42,012,262 |
I710L |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,378,807 |
H208L |
probably damaging |
Het |
| Wtap |
T |
C |
17: 12,980,824 |
T91A |
probably benign |
Het |
| Xirp1 |
A |
T |
9: 120,017,027 |
V930E |
probably damaging |
Het |
| Xpo4 |
T |
G |
14: 57,590,108 |
H877P |
probably benign |
Het |
|
| Other mutations in Tcf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Tcf4
|
APN |
18 |
69655019 |
missense |
probably damaging |
1.00 |
|
IGL02131:Tcf4
|
APN |
18 |
69564626 |
splice site |
probably benign |
|
|
IGL02221:Tcf4
|
APN |
18 |
69347367 |
missense |
probably damaging |
1.00 |
|
IGL02420:Tcf4
|
APN |
18 |
69564139 |
missense |
probably damaging |
1.00 |
|
IGL02560:Tcf4
|
APN |
18 |
69643022 |
unclassified |
probably benign |
|
|
IGL02637:Tcf4
|
APN |
18 |
69347350 |
missense |
probably damaging |
1.00 |
|
IGL03056:Tcf4
|
APN |
18 |
69651212 |
splice site |
probably benign |
|
|
R0374:Tcf4
|
UTSW |
18 |
69681812 |
splice site |
probably benign |
|
|
R1265:Tcf4
|
UTSW |
18 |
69642932 |
missense |
possibly damaging |
0.93 |
|
R1739:Tcf4
|
UTSW |
18 |
69642970 |
missense |
probably damaging |
1.00 |
|
R1794:Tcf4
|
UTSW |
18 |
69657853 |
missense |
probably benign |
0.44 |
|
R4735:Tcf4
|
UTSW |
18 |
69564155 |
missense |
possibly damaging |
0.59 |
|
R4993:Tcf4
|
UTSW |
18 |
69681769 |
missense |
probably damaging |
1.00 |
|
R5191:Tcf4
|
UTSW |
18 |
69642883 |
missense |
probably damaging |
1.00 |
|
R5318:Tcf4
|
UTSW |
18 |
69465430 |
missense |
probably benign |
|
|
R5634:Tcf4
|
UTSW |
18 |
69636847 |
missense |
possibly damaging |
0.88 |
|
R6337:Tcf4
|
UTSW |
18 |
69633580 |
missense |
probably damaging |
1.00 |
|
R6658:Tcf4
|
UTSW |
18 |
69657802 |
missense |
probably null |
1.00 |
|
R6868:Tcf4
|
UTSW |
18 |
69657650 |
splice site |
probably null |
|
|
R6907:Tcf4
|
UTSW |
18 |
69652413 |
missense |
probably damaging |
1.00 |
|
R7170:Tcf4
|
UTSW |
18 |
69633578 |
missense |
probably damaging |
1.00 |
|
R7235:Tcf4
|
UTSW |
18 |
69657795 |
missense |
probably damaging |
1.00 |
|
R7431:Tcf4
|
UTSW |
18 |
69347178 |
splice site |
probably null |
|
|
R7589:Tcf4
|
UTSW |
18 |
69682819 |
makesense |
probably null |
|
|
R7606:Tcf4
|
UTSW |
18 |
69642983 |
missense |
probably damaging |
0.99 |
|
R7796:Tcf4
|
UTSW |
18 |
69564069 |
missense |
probably benign |
0.02 |
|
R8193:Tcf4
|
UTSW |
18 |
69500923 |
start gained |
probably benign |
|
|
R8461:Tcf4
|
UTSW |
18 |
69465430 |
missense |
probably benign |
|
|
R8746:Tcf4
|
UTSW |
18 |
69521501 |
unclassified |
probably benign |
|
|
R8900:Tcf4
|
UTSW |
18 |
69564690 |
splice site |
probably benign |
|
|
R9095:Tcf4
|
UTSW |
18 |
69465393 |
missense |
possibly damaging |
0.83 |
|
R9278:Tcf4
|
UTSW |
18 |
69633581 |
missense |
probably damaging |
1.00 |
|
R9516:Tcf4
|
UTSW |
18 |
69519873 |
unclassified |
probably benign |
|
|
Z1176:Tcf4
|
UTSW |
18 |
69593380 |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGGATTCTGCTTTGTG -3'
(R):5'- GCCACTCAACCAACTGTGTG -3'
Sequencing Primer
(F):5'- TGCATGCATTTCCAACTAAATCCG -3'
(R):5'- CTCTCTTTGTACATGAGGCGAAAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation