Incidental Mutation 'IGL03056:Tcf4'
| ID |
409252 |
| 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 # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 69784283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000201781]
[ENSMUST00000200921]
[ENSMUST00000201091]
[ENSMUST00000201631]
[ENSMUST00000145918]
[ENSMUST00000201410]
[ENSMUST00000201037]
[ENSMUST00000201094]
[ENSMUST00000200703]
[ENSMUST00000200862]
[ENSMUST00000201205]
[ENSMUST00000202057]
[ENSMUST00000201964]
[ENSMUST00000202435]
[ENSMUST00000202474]
[ENSMUST00000202674]
[ENSMUST00000202610]
[ENSMUST00000202751]
[ENSMUST00000202937]
[ENSMUST00000202477]
[ENSMUST00000202116]
[ENSMUST00000202772]
[ENSMUST00000202765]
[ENSMUST00000202354]
[ENSMUST00000202458]
[ENSMUST00000209116]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066717
|
| SMART Domains |
Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
244 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
564 |
N/A |
INTRINSIC |
|
HLH
|
595 |
648 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078486
|
| SMART Domains |
Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
HLH
|
573 |
626 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114977
|
| SMART Domains |
Protein: ENSMUSP00000110628
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
HLH
|
410 |
463 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114978
|
| SMART Domains |
Protein: ENSMUSP00000110629
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
383 |
N/A |
INTRINSIC |
|
HLH
|
414 |
467 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114980
|
| SMART Domains |
Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
545 |
N/A |
INTRINSIC |
|
HLH
|
569 |
622 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114982
|
| SMART Domains |
Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
545 |
N/A |
INTRINSIC |
|
HLH
|
569 |
622 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114985
|
| SMART Domains |
Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
222 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
524 |
542 |
N/A |
INTRINSIC |
|
HLH
|
573 |
626 |
3.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: 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: ENSMUST00000200921
|
| SMART Domains |
Protein: ENSMUSP00000143892
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201091
|
| SMART Domains |
Protein: ENSMUSP00000144386
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201157
|
| 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: ENSMUST00000145918
|
| SMART Domains |
Protein: ENSMUSP00000144298
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201045
|
| 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: ENSMUST00000201037
|
| SMART Domains |
Protein: ENSMUSP00000144488
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: 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: 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 |
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: 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: ENSMUST00000201964
|
| SMART Domains |
Protein: ENSMUSP00000144070
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: 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: ENSMUST00000202474
|
| SMART Domains |
Protein: ENSMUSP00000143820
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
HLH
|
410 |
463 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: 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: 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: ENSMUST00000202751
|
| SMART Domains |
Protein: ENSMUSP00000144064
Gene: ENSMUSG00000053477
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000209116
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation