Incidental Mutation 'IGL02131:Tcf4'
| ID |
281207 |
| 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 # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 69697697 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]
[ENSMUST00000201181]
[ENSMUST00000201235]
[ENSMUST00000201288]
[ENSMUST00000201124]
[ENSMUST00000200966]
[ENSMUST00000201205]
[ENSMUST00000200813]
[ENSMUST00000200862]
[ENSMUST00000201299]
[ENSMUST00000201094]
[ENSMUST00000200703]
[ENSMUST00000202074]
[ENSMUST00000201537]
[ENSMUST00000201627]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000202057]
[ENSMUST00000202937]
[ENSMUST00000202116]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000207214]
[ENSMUST00000202477]
[ENSMUST00000202765]
[ENSMUST00000202458]
[ENSMUST00000202674]
[ENSMUST00000201410]
[ENSMUST00000202350]
[ENSMUST00000209174]
[ENSMUST00000202610]
[ENSMUST00000202772]
[ENSMUST00000203002]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000125154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136151
|
| 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: ENSMUST00000201235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201288
|
| 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: ENSMUST00000200966
|
| SMART Domains |
Protein: ENSMUSP00000144045
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200902
|
| 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: 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: ENSMUST00000201299
|
| 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: 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: ENSMUST00000202074
|
| 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: 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: 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: 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: ENSMUST00000207214
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000201747
|
| 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: 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: 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: ENSMUST00000209174
|
| 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: 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: ENSMUST00000203002
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,029,148 (GRCm39) |
D30G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably 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 |
|
IGL02221:Tcf4
|
APN |
18 |
69,480,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Tcf4
|
APN |
18 |
69,697,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Tcf4
|
APN |
18 |
69,776,093 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02637:Tcf4
|
APN |
18 |
69,480,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Tcf4
|
APN |
18 |
69,784,283 (GRCm39) |
splice site |
probably benign |
|
|
R0374:Tcf4
|
UTSW |
18 |
69,814,883 (GRCm39) |
splice site |
probably benign |
|
|
R1265:Tcf4
|
UTSW |
18 |
69,776,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1739:Tcf4
|
UTSW |
18 |
69,776,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Tcf4
|
UTSW |
18 |
69,790,924 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4703:Tcf4
|
UTSW |
18 |
69,790,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Tcf4
|
UTSW |
18 |
69,697,226 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4993:Tcf4
|
UTSW |
18 |
69,814,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Tcf4
|
UTSW |
18 |
69,775,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Tcf4
|
UTSW |
18 |
69,598,501 (GRCm39) |
missense |
probably benign |
|
|
R5634:Tcf4
|
UTSW |
18 |
69,769,918 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6337:Tcf4
|
UTSW |
18 |
69,766,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Tcf4
|
UTSW |
18 |
69,790,873 (GRCm39) |
missense |
probably null |
1.00 |
|
R6868:Tcf4
|
UTSW |
18 |
69,790,721 (GRCm39) |
splice site |
probably null |
|
|
R6907:Tcf4
|
UTSW |
18 |
69,785,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Tcf4
|
UTSW |
18 |
69,766,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7235:Tcf4
|
UTSW |
18 |
69,790,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Tcf4
|
UTSW |
18 |
69,480,249 (GRCm39) |
splice site |
probably null |
|
|
R7589:Tcf4
|
UTSW |
18 |
69,815,890 (GRCm39) |
makesense |
probably null |
|
|
R7606:Tcf4
|
UTSW |
18 |
69,776,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7796:Tcf4
|
UTSW |
18 |
69,697,140 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8193:Tcf4
|
UTSW |
18 |
69,633,994 (GRCm39) |
start gained |
probably benign |
|
|
R8461:Tcf4
|
UTSW |
18 |
69,598,501 (GRCm39) |
missense |
probably benign |
|
|
R8746:Tcf4
|
UTSW |
18 |
69,654,572 (GRCm39) |
unclassified |
probably benign |
|
|
R8900:Tcf4
|
UTSW |
18 |
69,697,761 (GRCm39) |
splice site |
probably benign |
|
|
R9095:Tcf4
|
UTSW |
18 |
69,598,464 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9278:Tcf4
|
UTSW |
18 |
69,766,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Tcf4
|
UTSW |
18 |
69,652,944 (GRCm39) |
unclassified |
probably benign |
|
|
R9633:Tcf4
|
UTSW |
18 |
69,726,382 (GRCm39) |
intron |
probably benign |
|
|
R9756:Tcf4
|
UTSW |
18 |
69,790,830 (GRCm39) |
nonsense |
probably null |
|
|
R9790:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Tcf4
|
UTSW |
18 |
69,770,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tcf4
|
UTSW |
18 |
69,726,451 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation