Incidental Mutation 'IGL01413:Tcf4'
ID |
80149 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01413
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 69788090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 160
(E160D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000201631]
[ENSMUST00000201037]
[ENSMUST00000201094]
[ENSMUST00000201410]
[ENSMUST00000201205]
[ENSMUST00000200703]
[ENSMUST00000200862]
[ENSMUST00000201091]
[ENSMUST00000200921]
[ENSMUST00000145918]
[ENSMUST00000202474]
[ENSMUST00000202674]
[ENSMUST00000202458]
[ENSMUST00000202477]
[ENSMUST00000202116]
[ENSMUST00000202354]
[ENSMUST00000202937]
[ENSMUST00000202057]
[ENSMUST00000202772]
[ENSMUST00000201964]
[ENSMUST00000201781]
[ENSMUST00000202435]
[ENSMUST00000202610]
[ENSMUST00000209116]
[ENSMUST00000202751]
[ENSMUST00000202765]
|
AlphaFold |
Q60722 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066717
AA Change: E397D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000067318 Gene: ENSMUSG00000053477 AA Change: E397D
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 |
possibly damaging
Transcript: ENSMUST00000078486
AA Change: E375D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077577 Gene: ENSMUSG00000053477 AA Change: E375D
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 |
possibly damaging
Transcript: ENSMUST00000114977
AA Change: E216D
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110628 Gene: ENSMUSG00000053477 AA Change: E216D
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: E216D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110629 Gene: ENSMUSG00000053477 AA Change: E216D
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 |
possibly damaging
Transcript: ENSMUST00000114980
AA Change: E375D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110631 Gene: ENSMUSG00000053477 AA Change: E375D
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 |
possibly damaging
Transcript: ENSMUST00000114982
AA Change: E375D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110633 Gene: ENSMUSG00000053477 AA Change: E375D
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 |
possibly damaging
Transcript: ENSMUST00000114985
AA Change: E375D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110636 Gene: ENSMUSG00000053477 AA Change: E375D
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 |
possibly damaging
Transcript: ENSMUST00000201631
AA Change: E351D
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144285 Gene: ENSMUSG00000053477 AA Change: E351D
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 |
possibly damaging
Transcript: ENSMUST00000201037
AA Change: E136D
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144488 Gene: ENSMUSG00000053477 AA Change: E136D
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: ENSMUST00000201094
AA Change: E246D
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144169 Gene: ENSMUSG00000053477 AA Change: E246D
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: E246D
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000143950 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000201205
AA Change: E246D
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144273 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000200703
AA Change: E160D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144583 Gene: ENSMUSG00000053477 AA Change: E160D
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: E246D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144338 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000201091
AA Change: E215D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144386 Gene: ENSMUSG00000053477 AA Change: E215D
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200902
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200921
|
SMART Domains |
Protein: ENSMUSP00000143892 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145918
|
SMART Domains |
Protein: ENSMUSP00000144298 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202474
AA Change: E216D
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000143820 Gene: ENSMUSG00000053477 AA Change: E216D
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: ENSMUST00000202674
AA Change: E350D
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144221 Gene: ENSMUSG00000053477 AA Change: E350D
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 |
possibly damaging
Transcript: ENSMUST00000202458
AA Change: E296D
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143875 Gene: ENSMUSG00000053477 AA Change: E296D
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: ENSMUST00000202477
AA Change: E246D
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144219 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000202116
AA Change: E375D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144512 Gene: ENSMUSG00000053477 AA Change: E375D
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: ENSMUST00000202354
AA Change: E350D
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144646 Gene: ENSMUSG00000053477 AA Change: E350D
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 |
possibly damaging
Transcript: ENSMUST00000202937
AA Change: E246D
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000143857 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000202057
AA Change: E246D
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144647 Gene: ENSMUSG00000053477 AA Change: E246D
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: ENSMUST00000202772
AA Change: E315D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143987 Gene: ENSMUSG00000053477 AA Change: E315D
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: ENSMUST00000201964
AA Change: E160D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144070 Gene: ENSMUSG00000053477 AA Change: E160D
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: ENSMUST00000201781
AA Change: E351D
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144209 Gene: ENSMUSG00000053477 AA Change: E351D
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: ENSMUST00000202435
AA Change: E351D
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144407 Gene: ENSMUSG00000053477 AA Change: E351D
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: ENSMUST00000202610
AA Change: E315D
PolyPhen 2
Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144670 Gene: ENSMUSG00000053477 AA Change: E315D
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: 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: ENSMUST00000202765
|
SMART Domains |
Protein: ENSMUSP00000144332 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
low complexity region
|
207 |
218 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa2 |
A |
T |
18: 74,939,015 (GRCm39) |
|
probably benign |
Het |
Adgrl1 |
T |
A |
8: 84,656,486 (GRCm39) |
I268N |
probably damaging |
Het |
Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
Ass1 |
A |
G |
2: 31,366,934 (GRCm39) |
Y11C |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,644,632 (GRCm39) |
E448G |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,915,343 (GRCm39) |
S639P |
probably damaging |
Het |
Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
Col4a4 |
C |
T |
1: 82,448,969 (GRCm39) |
G1207E |
unknown |
Het |
Cracdl |
G |
A |
1: 37,651,387 (GRCm39) |
A1160V |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,943,894 (GRCm39) |
L58Q |
possibly damaging |
Het |
Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
Dlgap1 |
C |
A |
17: 70,823,069 (GRCm39) |
A18E |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,323,790 (GRCm39) |
L3707F |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,120,812 (GRCm39) |
M669K |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,151,191 (GRCm39) |
N289D |
probably benign |
Het |
Fbrsl1 |
T |
A |
5: 110,526,114 (GRCm39) |
E443D |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,052,239 (GRCm39) |
C288* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,373,598 (GRCm39) |
N498S |
possibly damaging |
Het |
Gja10 |
T |
C |
4: 32,602,070 (GRCm39) |
K105E |
probably damaging |
Het |
Glra4 |
C |
T |
X: 135,663,493 (GRCm39) |
R352H |
probably benign |
Het |
Gm19402 |
G |
T |
10: 77,526,323 (GRCm39) |
|
probably benign |
Het |
Hadha |
T |
A |
5: 30,346,025 (GRCm39) |
M200L |
probably benign |
Het |
Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
Huwe1 |
A |
T |
X: 150,665,676 (GRCm39) |
Q1231L |
possibly damaging |
Het |
Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
Il1rl1 |
A |
T |
1: 40,485,329 (GRCm39) |
K260N |
possibly damaging |
Het |
Lhx6 |
C |
A |
2: 35,993,528 (GRCm39) |
A57S |
probably benign |
Het |
Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
Met |
T |
C |
6: 17,558,895 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,638,211 (GRCm39) |
D387G |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,302,411 (GRCm39) |
S287P |
probably benign |
Het |
Nol8 |
T |
G |
13: 49,813,428 (GRCm39) |
N140K |
possibly damaging |
Het |
Nrap |
C |
A |
19: 56,377,823 (GRCm39) |
A56S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,876,030 (GRCm39) |
T548A |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,554 (GRCm39) |
F102I |
possibly damaging |
Het |
Pcdh11x |
A |
G |
X: 119,309,282 (GRCm39) |
T242A |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,186,147 (GRCm39) |
I1215V |
possibly damaging |
Het |
Plekha8 |
C |
T |
6: 54,599,261 (GRCm39) |
T265I |
probably benign |
Het |
Pou4f2 |
T |
A |
8: 79,161,734 (GRCm39) |
I290F |
probably damaging |
Het |
Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
Rab28 |
A |
T |
5: 41,855,790 (GRCm39) |
D68E |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
Samd4 |
A |
G |
14: 47,254,249 (GRCm39) |
T137A |
probably benign |
Het |
Serpinb1b |
T |
G |
13: 33,277,842 (GRCm39) |
D358E |
probably damaging |
Het |
Serpinb9c |
G |
A |
13: 33,335,787 (GRCm39) |
L222F |
probably damaging |
Het |
Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
Spef2 |
T |
A |
15: 9,676,376 (GRCm39) |
I732L |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,999 (GRCm39) |
|
probably benign |
Het |
Ssxb13 |
A |
G |
X: 8,615,692 (GRCm39) |
E75G |
probably benign |
Het |
Stmnd1 |
A |
T |
13: 46,453,157 (GRCm39) |
I278L |
probably benign |
Het |
Strap |
C |
A |
6: 137,722,502 (GRCm39) |
|
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Themis3 |
A |
G |
17: 66,863,092 (GRCm39) |
Y289H |
probably benign |
Het |
Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,033,678 (GRCm39) |
V963A |
possibly damaging |
Het |
Trav19 |
G |
T |
14: 54,083,072 (GRCm39) |
C49F |
probably damaging |
Het |
Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
Usp9x |
A |
G |
X: 13,017,579 (GRCm39) |
S1696G |
probably benign |
Het |
Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
Vmn1r185 |
A |
T |
7: 26,311,046 (GRCm39) |
V153E |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,827 (GRCm39) |
T174A |
probably benign |
Het |
Wdr59 |
T |
A |
8: 112,227,706 (GRCm39) |
S124C |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,340,270 (GRCm39) |
D837V |
probably damaging |
Het |
Zfp185 |
A |
G |
X: 72,061,997 (GRCm39) |
D403G |
possibly damaging |
Het |
Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
|
Other mutations in Tcf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R9791:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tcf4
|
UTSW |
18 |
69,726,451 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2013-11-05 |