Incidental Mutation 'R6868:Tcf4'
| ID |
536057 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6868 (G1)
|
| Quality Score |
223.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 69790721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000200703]
[ENSMUST00000200862]
[ENSMUST00000201037]
[ENSMUST00000201091]
[ENSMUST00000201094]
[ENSMUST00000201205]
[ENSMUST00000201410]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000201964]
[ENSMUST00000202057]
[ENSMUST00000202116]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202474]
[ENSMUST00000202477]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202751]
[ENSMUST00000202772]
[ENSMUST00000202937]
[ENSMUST00000209116]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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: 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 null
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 null
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: ENSMUST00000209116
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
T |
16: 14,436,559 (GRCm39) |
N204I |
probably damaging |
Het |
| Aasdh |
C |
T |
5: 77,039,527 (GRCm39) |
V261M |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,839 (GRCm39) |
F126L |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,855 (GRCm39) |
L87P |
probably damaging |
Het |
| Alcam |
G |
A |
16: 52,088,748 (GRCm39) |
S554F |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,747,878 (GRCm39) |
S1205P |
possibly damaging |
Het |
| Bst2 |
A |
C |
8: 71,987,404 (GRCm39) |
V150G |
unknown |
Het |
| C3 |
T |
C |
17: 57,511,029 (GRCm39) |
Y1659C |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 126,900,870 (GRCm39) |
V174A |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,745,055 (GRCm39) |
N396K |
probably benign |
Het |
| Cfap144 |
C |
T |
11: 58,683,732 (GRCm39) |
D113N |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,501 (GRCm39) |
|
probably null |
Het |
| Cnih4 |
A |
G |
1: 180,993,762 (GRCm39) |
I76V |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,336,633 (GRCm39) |
V1404I |
probably benign |
Het |
| Ctrb1 |
T |
C |
8: 112,416,035 (GRCm39) |
D53G |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,833,109 (GRCm39) |
R1323L |
possibly damaging |
Het |
| Dchs1 |
A |
G |
7: 105,412,710 (GRCm39) |
V1230A |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,513 (GRCm39) |
D219G |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,862,293 (GRCm39) |
T225A |
probably damaging |
Het |
| Dock9 |
G |
T |
14: 121,823,676 (GRCm39) |
A1412E |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,631,140 (GRCm39) |
V292M |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,830,237 (GRCm39) |
V1509E |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,226,146 (GRCm39) |
Q1839R |
probably damaging |
Het |
| Gcat |
A |
G |
15: 78,919,566 (GRCm39) |
D177G |
probably damaging |
Het |
| Gss |
T |
C |
2: 155,409,732 (GRCm39) |
T235A |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,250,450 (GRCm39) |
M114K |
probably damaging |
Het |
| Ints5 |
T |
G |
19: 8,874,750 (GRCm39) |
L903R |
probably damaging |
Het |
| Lipo2 |
G |
T |
19: 33,725,862 (GRCm39) |
P130Q |
possibly damaging |
Het |
| Megf11 |
G |
A |
9: 64,587,591 (GRCm39) |
C494Y |
probably damaging |
Het |
| Milr1 |
T |
C |
11: 106,654,747 (GRCm39) |
Y162H |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,219,244 (GRCm39) |
I278N |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
| Myh15 |
G |
A |
16: 48,889,766 (GRCm39) |
C119Y |
probably damaging |
Het |
| Nap1l1 |
G |
A |
10: 111,330,669 (GRCm39) |
G358D |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,529,027 (GRCm39) |
I2178V |
possibly damaging |
Het |
| Nkx2-5 |
T |
C |
17: 27,060,268 (GRCm39) |
E21G |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,848,332 (GRCm39) |
R967C |
probably benign |
Het |
| Or6c215 |
T |
C |
10: 129,638,037 (GRCm39) |
D119G |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,127,306 (GRCm39) |
R44G |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,222 (GRCm39) |
H87R |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,003,036 (GRCm39) |
L524F |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,176 (GRCm39) |
T376A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,557,111 (GRCm39) |
L449P |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,320 (GRCm39) |
R198G |
probably damaging |
Het |
| Pth2r |
C |
A |
1: 65,427,638 (GRCm39) |
A437E |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,604,864 (GRCm39) |
I60N |
probably benign |
Het |
| Pxmp2 |
C |
T |
5: 110,433,846 (GRCm39) |
R9Q |
probably damaging |
Het |
| Scarb2 |
T |
C |
5: 92,633,168 (GRCm39) |
K55E |
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,680,132 (GRCm39) |
V109A |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,130 (GRCm39) |
D18E |
probably damaging |
Het |
| Stk40 |
A |
G |
4: 126,017,607 (GRCm39) |
R45G |
probably damaging |
Het |
| Tbxas1 |
A |
T |
6: 39,061,240 (GRCm39) |
Q513L |
probably damaging |
Het |
| Tmc6 |
T |
A |
11: 117,665,143 (GRCm39) |
I377F |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,868,938 (GRCm39) |
I146V |
probably damaging |
Het |
| Trac |
T |
A |
14: 54,458,049 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,679,334 (GRCm39) |
D409G |
probably damaging |
Het |
| Usp39 |
A |
T |
6: 72,314,734 (GRCm39) |
V224E |
possibly damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,727 (GRCm39) |
M158L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,852,218 (GRCm39) |
I33L |
probably benign |
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 |
|
R6907:Tcf4
|
UTSW |
18 |
69,785,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Tcf4
|
UTSW |
18 |
69,766,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Tcf4
|
UTSW |
18 |
69,790,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Tcf4
|
UTSW |
18 |
69,480,249 (GRCm39) |
splice site |
probably null |
|
|
R7589:Tcf4
|
UTSW |
18 |
69,815,890 (GRCm39) |
makesense |
probably null |
|
|
R7606:Tcf4
|
UTSW |
18 |
69,776,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7796:Tcf4
|
UTSW |
18 |
69,697,140 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8193:Tcf4
|
UTSW |
18 |
69,633,994 (GRCm39) |
start gained |
probably benign |
|
|
R8461:Tcf4
|
UTSW |
18 |
69,598,501 (GRCm39) |
missense |
probably benign |
|
|
R8746:Tcf4
|
UTSW |
18 |
69,654,572 (GRCm39) |
unclassified |
probably benign |
|
|
R8900:Tcf4
|
UTSW |
18 |
69,697,761 (GRCm39) |
splice site |
probably benign |
|
|
R9095:Tcf4
|
UTSW |
18 |
69,598,464 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9278:Tcf4
|
UTSW |
18 |
69,766,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Tcf4
|
UTSW |
18 |
69,652,944 (GRCm39) |
unclassified |
probably benign |
|
|
R9633:Tcf4
|
UTSW |
18 |
69,726,382 (GRCm39) |
intron |
probably benign |
|
|
R9756:Tcf4
|
UTSW |
18 |
69,790,830 (GRCm39) |
nonsense |
probably null |
|
|
R9790:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tcf4
|
UTSW |
18 |
69,726,451 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGTCCAGTGTAGCATATG -3'
(R):5'- ATGATCCCATGCATGTCCC -3'
Sequencing Primer
(F):5'- CCACCAGTTTTCTAGGAAG -3'
(R):5'- ATGTCCCCATGGCCACCAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation