Incidental Mutation 'R9516:Tcf4'
| ID |
718624 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9516 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 69652944 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 |
probably benign
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: 99.7%
- 20x: 99.1%
|
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
T |
C |
2: 150,153,122 (GRCm39) |
N88D |
possibly damaging |
Het |
| 4933430I17Rik |
A |
G |
4: 62,460,916 (GRCm39) |
I264V |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 45,787,429 (GRCm39) |
F591L |
probably benign |
Het |
| Abr |
G |
T |
11: 76,310,658 (GRCm39) |
T810K |
probably damaging |
Het |
| Abracl |
T |
C |
10: 17,894,631 (GRCm39) |
E6G |
unknown |
Het |
| Adamts3 |
A |
T |
5: 89,834,750 (GRCm39) |
Y871N |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,354,275 (GRCm39) |
Y80H |
probably benign |
Het |
| Alas1 |
A |
G |
9: 106,115,840 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
A |
C |
2: 128,517,633 (GRCm39) |
L337R |
possibly damaging |
Het |
| Apaf1 |
T |
C |
10: 90,915,816 (GRCm39) |
Y24C |
probably damaging |
Het |
| Arhgef16 |
A |
G |
4: 154,365,432 (GRCm39) |
V561A |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,121,224 (GRCm39) |
H962Q |
probably benign |
Het |
| Brsk2 |
A |
G |
7: 141,546,852 (GRCm39) |
T432A |
probably benign |
Het |
| C1rl |
T |
A |
6: 124,485,802 (GRCm39) |
V391E |
probably damaging |
Het |
| Caps2 |
A |
T |
10: 112,036,637 (GRCm39) |
H399L |
probably benign |
Het |
| Ccdc43 |
C |
A |
11: 102,577,207 (GRCm39) |
K199N |
probably benign |
Het |
| Ccdc7a |
G |
T |
8: 129,555,774 (GRCm39) |
P1198T |
unknown |
Het |
| Cct7 |
A |
G |
6: 85,444,625 (GRCm39) |
Y423C |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,833,459 (GRCm39) |
T1795A |
probably benign |
Het |
| Clasp1 |
T |
G |
1: 118,431,560 (GRCm39) |
S397A |
possibly damaging |
Het |
| Clock |
A |
C |
5: 76,377,227 (GRCm39) |
F691V |
possibly damaging |
Het |
| Cmklr1 |
A |
G |
5: 113,752,341 (GRCm39) |
V220A |
probably benign |
Het |
| Coro2b |
A |
T |
9: 62,335,291 (GRCm39) |
Y298* |
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,649 (GRCm39) |
N565I |
|
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dlk2 |
G |
A |
17: 46,613,432 (GRCm39) |
G186D |
probably damaging |
Het |
| Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,672,186 (GRCm39) |
I164T |
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,207,041 (GRCm39) |
D651E |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,885,066 (GRCm39) |
K244R |
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,580,559 (GRCm39) |
Q549* |
probably null |
Het |
| Flvcr2 |
T |
C |
12: 85,793,954 (GRCm39) |
V110A |
possibly damaging |
Het |
| Gsta3 |
T |
C |
1: 21,320,060 (GRCm39) |
L22P |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,522 (GRCm39) |
T493A |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,005,523 (GRCm39) |
I707N |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,544 (GRCm39) |
N71D |
probably benign |
Het |
| Hnrnpr |
G |
T |
4: 136,063,615 (GRCm39) |
V342F |
probably damaging |
Het |
| Ifi44 |
T |
C |
3: 151,438,108 (GRCm39) |
D393G |
probably damaging |
Het |
| Ighv1-82 |
A |
T |
12: 115,916,566 (GRCm39) |
F9I |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,854,864 (GRCm39) |
S1999P |
probably damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,776,753 (GRCm39) |
S45P |
probably benign |
Het |
| Krt77 |
A |
T |
15: 101,769,779 (GRCm39) |
Y364N |
probably damaging |
Het |
| Kti12 |
T |
C |
4: 108,705,476 (GRCm39) |
V130A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,100,015 (GRCm39) |
E830G |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,545,505 (GRCm39) |
H434Q |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,179,801 (GRCm39) |
N1382K |
probably benign |
Het |
| Mrpl42 |
A |
G |
10: 95,332,684 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,569,103 (GRCm39) |
D1140G |
probably benign |
Het |
| Mtrr |
A |
G |
13: 68,720,755 (GRCm39) |
I280T |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,139,290 (GRCm39) |
I536F |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,141,129 (GRCm39) |
N730K |
probably damaging |
Het |
| Nat10 |
A |
C |
2: 103,563,364 (GRCm39) |
L545R |
probably damaging |
Het |
| Nav3 |
T |
A |
10: 109,520,015 (GRCm39) |
D2356V |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,937,366 (GRCm39) |
S748R |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,998,488 (GRCm39) |
T904A |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,397,050 (GRCm39) |
N820I |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,433,381 (GRCm39) |
V406A |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,901,863 (GRCm39) |
I644K |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,873 (GRCm39) |
I198V |
probably benign |
Het |
| Ostf1 |
T |
A |
19: 18,573,735 (GRCm39) |
I38F |
probably benign |
Het |
| Pacc1 |
G |
A |
1: 191,082,004 (GRCm39) |
R337Q |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,462,183 (GRCm39) |
D605Y |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 109,397,196 (GRCm39) |
T3A |
|
Het |
| Pknox1 |
A |
G |
17: 31,822,183 (GRCm39) |
I317V |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,918,240 (GRCm39) |
N1283S |
probably benign |
Het |
| Ppp3cb |
G |
A |
14: 20,573,868 (GRCm39) |
A289V |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,607,208 (GRCm39) |
D983G |
probably damaging |
Het |
| Psmd13 |
C |
T |
7: 140,478,455 (GRCm39) |
T62M |
|
Het |
| Rab42 |
C |
T |
4: 132,029,890 (GRCm39) |
V111I |
|
Het |
| Rabl2 |
T |
A |
15: 89,474,631 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
A |
11: 54,582,169 (GRCm39) |
S1365R |
probably damaging |
Het |
| Rassf4 |
G |
T |
6: 116,617,265 (GRCm39) |
H247N |
possibly damaging |
Het |
| Rbfox1 |
A |
G |
16: 7,227,573 (GRCm39) |
T363A |
probably benign |
Het |
| Rbmyf9 |
T |
A |
Y: 3,774,888 (GRCm39) |
F28L |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,184,742 (GRCm39) |
D1091G |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,593,275 (GRCm39) |
V454A |
probably benign |
Het |
| Selenbp2 |
G |
A |
3: 94,607,352 (GRCm39) |
D258N |
probably benign |
Het |
| Sirpa |
A |
T |
2: 129,457,555 (GRCm39) |
I210F |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 112,015,236 (GRCm39) |
S434P |
probably benign |
Het |
| Slc26a5 |
G |
A |
5: 22,016,337 (GRCm39) |
Q682* |
probably null |
Het |
| Slco4a1 |
C |
T |
2: 180,115,943 (GRCm39) |
S693F |
possibly damaging |
Het |
| Smpd3 |
A |
G |
8: 106,992,119 (GRCm39) |
F145L |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,184,040 (GRCm39) |
L527F |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,794 (GRCm39) |
N199D |
probably benign |
Het |
| Stard9 |
C |
G |
2: 120,534,564 (GRCm39) |
P3607R |
probably damaging |
Het |
| Sytl1 |
A |
G |
4: 132,986,291 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
A |
G |
6: 42,412,307 (GRCm39) |
H280R |
probably null |
Het |
| Tlcd2 |
A |
G |
11: 75,359,112 (GRCm39) |
T28A |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem119 |
A |
G |
5: 113,933,267 (GRCm39) |
L178P |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,484,564 (GRCm39) |
D532G |
probably benign |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,777 (GRCm39) |
I66T |
probably benign |
Het |
| Tor1b |
A |
G |
2: 30,843,185 (GRCm39) |
Y50C |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,648 (GRCm39) |
S751T |
probably benign |
Het |
| Tpra1 |
T |
C |
6: 88,887,221 (GRCm39) |
V193A |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,735,215 (GRCm39) |
V932E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,104 (GRCm39) |
T1479S |
unknown |
Het |
| Unc13c |
A |
T |
9: 73,392,220 (GRCm39) |
V2044D |
probably damaging |
Het |
| Usp25 |
T |
G |
16: 76,852,076 (GRCm39) |
V197G |
probably damaging |
Het |
| Vmn2r34 |
A |
G |
7: 7,675,366 (GRCm39) |
V674A |
probably benign |
Het |
| Zfp7 |
T |
C |
15: 76,775,484 (GRCm39) |
S509P |
probably damaging |
Het |
| Zfp821 |
A |
G |
8: 110,447,856 (GRCm39) |
T66A |
probably damaging |
Het |
| Zfp97 |
T |
A |
17: 17,365,930 (GRCm39) |
N476K |
possibly 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 |
|
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 |
|
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'- GGTCCAAATTTTGCGAGAGAG -3'
(R):5'- AATGTGGGACTTACCTGGTG -3'
Sequencing Primer
(F):5'- GTTTGTTAAGAGAAAGTGGAGGCCTC -3'
(R):5'- GGTGGCAACCCTGAACGTTTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation