Incidental Mutation 'IGL02560:Tcf4'
ID |
298208 |
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 # |
IGL02560
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 69776093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147155
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000200703]
[ENSMUST00000200862]
[ENSMUST00000201094]
[ENSMUST00000145918]
[ENSMUST00000200921]
[ENSMUST00000201091]
[ENSMUST00000201037]
[ENSMUST00000201205]
[ENSMUST00000201410]
[ENSMUST00000200966]
[ENSMUST00000201124]
[ENSMUST00000201964]
[ENSMUST00000202116]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202674]
[ENSMUST00000202057]
[ENSMUST00000202751]
[ENSMUST00000202474]
[ENSMUST00000202610]
[ENSMUST00000202765]
[ENSMUST00000202772]
[ENSMUST00000201631]
[ENSMUST00000202477]
[ENSMUST00000201781]
[ENSMUST00000209116]
[ENSMUST00000202937]
[ENSMUST00000202354]
[ENSMUST00000209174]
[ENSMUST00000202350]
|
AlphaFold |
Q60722 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066717
|
SMART Domains |
Protein: ENSMUSP00000067318 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000077577 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000110628 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000110629 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000110631 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000110633 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000110636 Gene: ENSMUSG00000053477
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 |
noncoding transcript
Transcript: ENSMUST00000201045
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200862
|
SMART Domains |
Protein: ENSMUSP00000144338 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000144169 Gene: ENSMUSG00000053477
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 |
noncoding transcript
Transcript: ENSMUST00000201157
|
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 |
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: 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 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 benign
Transcript: ENSMUST00000201205
|
SMART Domains |
Protein: ENSMUSP00000144273 Gene: ENSMUSG00000053477
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: ENSMUST00000201410
|
SMART Domains |
Protein: ENSMUSP00000143950 Gene: ENSMUSG00000053477
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 |
noncoding transcript
Transcript: ENSMUST00000200902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200966
|
SMART Domains |
Protein: ENSMUSP00000144045 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201124
|
SMART Domains |
Protein: ENSMUSP00000144080 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
145 |
153 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202116
|
SMART Domains |
Protein: ENSMUSP00000144512 Gene: ENSMUSG00000053477
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: ENSMUST00000202435
|
SMART Domains |
Protein: ENSMUSP00000144407 Gene: ENSMUSG00000053477
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
|
SMART Domains |
Protein: ENSMUSP00000143875 Gene: ENSMUSG00000053477
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: ENSMUST00000202674
|
SMART Domains |
Protein: ENSMUSP00000144221 Gene: ENSMUSG00000053477
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: ENSMUST00000202057
|
SMART Domains |
Protein: ENSMUSP00000144647 Gene: ENSMUSG00000053477
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: 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: ENSMUST00000202474
|
SMART Domains |
Protein: ENSMUSP00000143820 Gene: ENSMUSG00000053477
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: ENSMUST00000202610
|
SMART Domains |
Protein: ENSMUSP00000144670 Gene: ENSMUSG00000053477
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202772
|
SMART Domains |
Protein: ENSMUSP00000143987 Gene: ENSMUSG00000053477
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: ENSMUST00000201631
|
SMART Domains |
Protein: ENSMUSP00000144285 Gene: ENSMUSG00000053477
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: ENSMUST00000202477
|
SMART Domains |
Protein: ENSMUSP00000144219 Gene: ENSMUSG00000053477
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: ENSMUST00000201781
|
SMART Domains |
Protein: ENSMUSP00000144209 Gene: ENSMUSG00000053477
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: ENSMUST00000209116
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202937
|
SMART Domains |
Protein: ENSMUSP00000143857 Gene: ENSMUSG00000053477
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: ENSMUST00000202354
|
SMART Domains |
Protein: ENSMUSP00000144646 Gene: ENSMUSG00000053477
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: ENSMUST00000209174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202350
|
SMART Domains |
Protein: ENSMUSP00000144154 Gene: ENSMUSG00000053477
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
101 |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
Pwp2 |
T |
C |
10: 78,014,899 (GRCm39) |
S362G |
probably damaging |
Het |
Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
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 |
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 |
2015-04-16 |