Incidental Mutation 'R1794:Tcf4'
ID |
202088 |
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 |
039824-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1794 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69790924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 178
(M178K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000201037]
[ENSMUST00000201205]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000201091]
[ENSMUST00000200862]
[ENSMUST00000201094]
[ENSMUST00000201410]
[ENSMUST00000114985]
[ENSMUST00000200703]
[ENSMUST00000202477]
[ENSMUST00000202116]
[ENSMUST00000202610]
[ENSMUST00000202772]
[ENSMUST00000202458]
[ENSMUST00000202474]
[ENSMUST00000202057]
[ENSMUST00000202674]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202937]
[ENSMUST00000209116]
[ENSMUST00000202751]
[ENSMUST00000201964]
|
AlphaFold |
Q60722 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066717
AA Change: M439K
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000067318 Gene: ENSMUSG00000053477 AA Change: M439K
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: M417K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000077577 Gene: ENSMUSG00000053477 AA Change: M417K
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: M258K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110628 Gene: ENSMUSG00000053477 AA Change: M258K
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: M258K
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000110629 Gene: ENSMUSG00000053477 AA Change: M258K
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: M417K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110631 Gene: ENSMUSG00000053477 AA Change: M417K
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: M417K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110633 Gene: ENSMUSG00000053477 AA Change: M417K
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: ENSMUST00000201037
AA Change: M178K
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144488 Gene: ENSMUSG00000053477 AA Change: M178K
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 benign
Transcript: ENSMUST00000201205
AA Change: M288K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144273 Gene: ENSMUSG00000053477 AA Change: M288K
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: ENSMUST00000201631
AA Change: M393K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144285 Gene: ENSMUSG00000053477 AA Change: M393K
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: M393K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144209 Gene: ENSMUSG00000053477 AA Change: M393K
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: ENSMUST00000201091
AA Change: M257K
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000144386 Gene: ENSMUSG00000053477 AA Change: M257K
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: ENSMUST00000200862
AA Change: M288K
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000144338 Gene: ENSMUSG00000053477 AA Change: M288K
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: ENSMUST00000201094
AA Change: M288K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144169 Gene: ENSMUSG00000053477 AA Change: M288K
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: ENSMUST00000201410
AA Change: M288K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143950 Gene: ENSMUSG00000053477 AA Change: M288K
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: ENSMUST00000114985
AA Change: M417K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110636 Gene: ENSMUSG00000053477 AA Change: M417K
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 |
noncoding transcript
Transcript: ENSMUST00000201081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201157
|
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 benign
Transcript: ENSMUST00000202477
AA Change: M288K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144219 Gene: ENSMUSG00000053477 AA Change: M288K
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: M417K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000144512 Gene: ENSMUSG00000053477 AA Change: M417K
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: ENSMUST00000202610
AA Change: M357K
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144670 Gene: ENSMUSG00000053477 AA Change: M357K
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 benign
Transcript: ENSMUST00000202772
AA Change: M357K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143987 Gene: ENSMUSG00000053477 AA Change: M357K
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: ENSMUST00000202458
AA Change: M338K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143875 Gene: ENSMUSG00000053477 AA Change: M338K
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: M258K
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143820 Gene: ENSMUSG00000053477 AA Change: M258K
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: ENSMUST00000202057
AA Change: M288K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144647 Gene: ENSMUSG00000053477 AA Change: M288K
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: ENSMUST00000202674
AA Change: M392K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000144221 Gene: ENSMUSG00000053477 AA Change: M392K
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 benign
Transcript: ENSMUST00000202354
AA Change: M392K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000144646 Gene: ENSMUSG00000053477 AA Change: M392K
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: M393K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144407 Gene: ENSMUSG00000053477 AA Change: M393K
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: ENSMUST00000202937
AA Change: M288K
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143857 Gene: ENSMUSG00000053477 AA Change: M288K
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: 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 |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
Cc2d2a |
C |
A |
5: 43,845,594 (GRCm39) |
Q288K |
probably damaging |
Het |
Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
Dis3l |
A |
C |
9: 64,225,058 (GRCm39) |
V413G |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
Fmnl1 |
T |
C |
11: 103,087,973 (GRCm39) |
S40P |
probably benign |
Het |
Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
Ikbke |
T |
A |
1: 131,186,955 (GRCm39) |
Y579F |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,458,728 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
probably damaging |
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 |
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 |
R9791: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'- CCCAGGATTCTGCTTTGTGC -3'
(R):5'- ACTCAACCAACTGTGTGATGG -3'
Sequencing Primer
(F):5'- ACCGTTTGGAAAGACTGG -3'
(R):5'- GATGGTCACGCAATCCTGTGAAC -3'
|
Posted On |
2014-06-23 |