Incidental Mutation 'R8900:Tcf4'
| ID |
711139 |
| 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 |
068757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 69697761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000128706]
[ENSMUST00000200703]
[ENSMUST00000200813]
[ENSMUST00000200862]
[ENSMUST00000200966]
[ENSMUST00000201094]
[ENSMUST00000201124]
[ENSMUST00000201181]
[ENSMUST00000201205]
[ENSMUST00000201235]
[ENSMUST00000201288]
[ENSMUST00000201299]
[ENSMUST00000201410]
[ENSMUST00000201537]
[ENSMUST00000201627]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000202057]
[ENSMUST00000202074]
[ENSMUST00000202116]
[ENSMUST00000202350]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202477]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202765]
[ENSMUST00000202772]
[ENSMUST00000202937]
[ENSMUST00000203002]
[ENSMUST00000207214]
[ENSMUST00000209174]
|
| 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: 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 |
silent
Transcript: ENSMUST00000128706
|
| 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: ENSMUST00000200813
|
| SMART Domains |
Protein: ENSMUSP00000144397
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200862
|
| 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: 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: 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 |
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: ENSMUST00000201181
|
| SMART Domains |
Protein: ENSMUSP00000144376
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201205
|
| 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: ENSMUST00000201235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201299
|
| 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 |
probably benign
Transcript: ENSMUST00000201537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201627
|
| SMART Domains |
Protein: ENSMUSP00000144649
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201631
|
| 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: 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: 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: ENSMUST00000202074
|
| 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: ENSMUST00000202350
|
| SMART Domains |
Protein: ENSMUSP00000144154
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| 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: 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: 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: 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: 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: 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: 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: ENSMUST00000203002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209174
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,045,218 (GRCm39) |
T372A |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,865,930 (GRCm39) |
R493S |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,297,830 (GRCm39) |
T309I |
probably damaging |
Het |
| Arhgap22 |
G |
A |
14: 32,993,880 (GRCm39) |
W58* |
probably null |
Het |
| B4galt4 |
C |
T |
16: 38,572,404 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,311 (GRCm39) |
I70L |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,977,942 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cand2 |
C |
T |
6: 115,757,894 (GRCm39) |
T52M |
probably benign |
Het |
| Cd101 |
C |
A |
3: 100,926,062 (GRCm39) |
R219L |
probably benign |
Het |
| Cd5l |
T |
A |
3: 87,274,882 (GRCm39) |
D140E |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,904,197 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,906 (GRCm39) |
M355V |
possibly damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Clec4a4 |
A |
G |
6: 123,000,875 (GRCm39) |
E196G |
probably damaging |
Het |
| Cpxm1 |
T |
A |
2: 130,235,360 (GRCm39) |
D544V |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,447,245 (GRCm39) |
D535E |
probably benign |
Het |
| Daw1 |
T |
G |
1: 83,175,898 (GRCm39) |
L212R |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,135,445 (GRCm39) |
T443S |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,817,940 (GRCm39) |
D1627G |
probably damaging |
Het |
| Dohh |
A |
G |
10: 81,223,735 (GRCm39) |
I263V |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Dus4l |
G |
T |
12: 31,690,692 (GRCm39) |
L320I |
possibly damaging |
Het |
| Edc4 |
A |
C |
8: 106,617,857 (GRCm39) |
Q1139P |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,549,228 (GRCm39) |
C213* |
probably null |
Het |
| Fgf14 |
A |
T |
14: 124,221,326 (GRCm39) |
Y159* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,019,632 (GRCm39) |
D749V |
unknown |
Het |
| Hip1 |
T |
C |
5: 135,459,144 (GRCm39) |
T203A |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,014 (GRCm39) |
D35G |
possibly damaging |
Het |
| Itga4 |
T |
A |
2: 79,145,332 (GRCm39) |
I716K |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
| Ndufb3 |
T |
C |
1: 58,634,824 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,665,023 (GRCm39) |
H399R |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,601 (GRCm39) |
S191P |
probably damaging |
Het |
| Or13c7e-ps1 |
G |
T |
4: 43,781,432 (GRCm39) |
S299R |
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,180,413 (GRCm39) |
S314P |
probably damaging |
Het |
| Pcdha11 |
T |
G |
18: 37,145,799 (GRCm39) |
I630S |
probably damaging |
Het |
| Pfkl |
C |
G |
10: 77,836,615 (GRCm39) |
G134A |
probably damaging |
Het |
| Phf19 |
A |
T |
2: 34,795,484 (GRCm39) |
C196S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,096 (GRCm39) |
K468R |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,310,078 (GRCm39) |
S79G |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,384 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,838,778 (GRCm39) |
E33D |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,705,493 (GRCm39) |
I174F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,016,882 (GRCm39) |
V549A |
possibly damaging |
Het |
| Rnf31 |
T |
G |
14: 55,833,689 (GRCm39) |
C566G |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,478 (GRCm39) |
W796* |
probably null |
Het |
| Sdc1 |
C |
T |
12: 8,840,460 (GRCm39) |
T79I |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,424,182 (GRCm39) |
E242A |
probably damaging |
Het |
| Slc22a30 |
A |
C |
19: 8,315,340 (GRCm39) |
M430R |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,103,863 (GRCm39) |
T139K |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,327 (GRCm39) |
D29G |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,689,437 (GRCm39) |
I2050N |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,460,603 (GRCm39) |
F531I |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,855,884 (GRCm39) |
I539F |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,859,956 (GRCm39) |
D666G |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,842 (GRCm39) |
S253P |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,261,924 (GRCm39) |
I402T |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,511,619 (GRCm39) |
Y609H |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,863 (GRCm39) |
M245L |
probably benign |
Het |
| Vmn2r42 |
C |
T |
7: 8,197,792 (GRCm39) |
E276K |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,838,287 (GRCm39) |
N65K |
probably damaging |
Het |
| Zbtb47 |
A |
C |
9: 121,596,705 (GRCm39) |
K687T |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,463,924 (GRCm39) |
S1361P |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,558,708 (GRCm39) |
C396* |
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 |
|
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 |
|
|
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'- AAAGTGCCATTTTCTCTGTGGTAG -3'
(R):5'- CAGGGGCCATTAATCACCAC -3'
Sequencing Primer
(F):5'- CCATTTTCTCTGTGGTAGCATGAAAG -3'
(R):5'- CCACAGTGAGGGTCAGGTAAAGC -3'
|
| Posted On |
2022-05-13 |
Incidental Mutation