Incidental Mutation 'R4993:Tcf4'
| ID |
385060 |
| 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 |
042587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4993 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69814840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 587
(V587A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114977]
[ENSMUST00000114978]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000201094]
[ENSMUST00000201205]
[ENSMUST00000201410]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000202057]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202474]
[ENSMUST00000202477]
[ENSMUST00000202116]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202772]
[ENSMUST00000202937]
[ENSMUST00000202751]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066717
AA Change: V638A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
AA Change: V638A
| 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 damaging
Transcript: ENSMUST00000078486
AA Change: V616A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
AA Change: V616A
| 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 |
possibly damaging
Transcript: ENSMUST00000114977
AA Change: V453A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110628
Gene: ENSMUSG00000053477
AA Change: V453A
| 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 damaging
Transcript: ENSMUST00000114978
AA Change: V457A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110629
Gene: ENSMUSG00000053477
AA Change: V457A
| 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 damaging
Transcript: ENSMUST00000114980
AA Change: V616A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
AA Change: V616A
| 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 damaging
Transcript: ENSMUST00000114982
AA Change: V612A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
AA Change: V612A
| 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 damaging
Transcript: ENSMUST00000114985
AA Change: V616A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
AA Change: V616A
| 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: ENSMUST00000146908
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201094
AA Change: V483A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144169
Gene: ENSMUSG00000053477
AA Change: V483A
| 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 damaging
Transcript: ENSMUST00000201205
AA Change: V487A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144273
Gene: ENSMUSG00000053477
AA Change: V487A
| 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 damaging
Transcript: ENSMUST00000201410
AA Change: V483A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143950
Gene: ENSMUSG00000053477
AA Change: V483A
| 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 damaging
Transcript: ENSMUST00000201631
AA Change: V588A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144285
Gene: ENSMUSG00000053477
AA Change: V588A
| 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 damaging
Transcript: ENSMUST00000201781
AA Change: V592A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144209
Gene: ENSMUSG00000053477
AA Change: V592A
| 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 damaging
Transcript: ENSMUST00000202057
AA Change: V483A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144647
Gene: ENSMUSG00000053477
AA Change: V483A
| 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 damaging
Transcript: ENSMUST00000202354
AA Change: V587A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144646
Gene: ENSMUSG00000053477
AA Change: V587A
| 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 damaging
Transcript: ENSMUST00000202435
AA Change: V592A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144407
Gene: ENSMUSG00000053477
AA Change: V592A
| 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 damaging
Transcript: ENSMUST00000202458
AA Change: V533A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143875
Gene: ENSMUSG00000053477
AA Change: V533A
| 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 damaging
Transcript: ENSMUST00000202474
AA Change: V453A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143820
Gene: ENSMUSG00000053477
AA Change: V453A
| 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 damaging
Transcript: ENSMUST00000202477
AA Change: V483A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144219
Gene: ENSMUSG00000053477
AA Change: V483A
| 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 damaging
Transcript: ENSMUST00000202116
AA Change: V612A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144512
Gene: ENSMUSG00000053477
AA Change: V612A
| 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 |
noncoding transcript
Transcript: ENSMUST00000136019
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202610
AA Change: V556A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144670
Gene: ENSMUSG00000053477
AA Change: V556A
| 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 damaging
Transcript: ENSMUST00000202674
AA Change: V587A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144221
Gene: ENSMUSG00000053477
AA Change: V587A
| 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 damaging
Transcript: ENSMUST00000202772
AA Change: V552A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143987
Gene: ENSMUSG00000053477
AA Change: V552A
| 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 damaging
Transcript: ENSMUST00000202937
AA Change: V487A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143857
Gene: ENSMUSG00000053477
AA Change: V487A
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| 9130008F23Rik |
G |
T |
17: 41,191,052 (GRCm39) |
Q126K |
probably benign |
Het |
| Abca15 |
C |
A |
7: 120,000,941 (GRCm39) |
N1492K |
probably damaging |
Het |
| Afap1l2 |
C |
T |
19: 56,906,472 (GRCm39) |
D402N |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,750,408 (GRCm39) |
F660L |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,554,102 (GRCm39) |
T89A |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,467,251 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cdk19 |
A |
G |
10: 40,352,214 (GRCm39) |
D288G |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,502,530 (GRCm39) |
D202V |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,625,259 (GRCm39) |
Y584* |
probably null |
Het |
| Dpf3 |
A |
T |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Emid1 |
G |
T |
11: 5,081,512 (GRCm39) |
Q212K |
probably benign |
Het |
| Esm1 |
C |
T |
13: 113,349,933 (GRCm39) |
Q118* |
probably null |
Het |
| Fahd2a |
T |
G |
2: 127,278,284 (GRCm39) |
I308L |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,085,126 (GRCm39) |
*851Q |
probably null |
Het |
| Fastkd1 |
C |
A |
2: 69,533,084 (GRCm39) |
V428F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,918 (GRCm39) |
I2265N |
probably damaging |
Het |
| Gale |
C |
A |
4: 135,694,171 (GRCm39) |
H191Q |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,426,403 (GRCm39) |
V153E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,861,951 (GRCm39) |
N289S |
possibly damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,537 (GRCm39) |
Y153F |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,814 (GRCm39) |
T139A |
probably benign |
Het |
| Irf2bp2 |
A |
G |
8: 127,319,410 (GRCm39) |
S256P |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,640 (GRCm39) |
P148Q |
probably damaging |
Het |
| Loxl1 |
T |
G |
9: 58,219,820 (GRCm39) |
H117P |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,348,445 (GRCm39) |
K225E |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,344 (GRCm39) |
V1678D |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,054,730 (GRCm39) |
F398Y |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,742,889 (GRCm39) |
*186Q |
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,586,182 (GRCm39) |
L105P |
probably damaging |
Het |
| Mlxip |
T |
G |
5: 123,533,357 (GRCm39) |
I122S |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,355 (GRCm39) |
Y107F |
probably damaging |
Het |
| Mtg1 |
G |
T |
7: 139,720,196 (GRCm39) |
D88Y |
probably null |
Het |
| Mutyh |
T |
A |
4: 116,675,132 (GRCm39) |
S426R |
probably benign |
Het |
| Myo16 |
C |
T |
8: 10,526,094 (GRCm39) |
T878I |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,768,755 (GRCm39) |
Y912* |
probably null |
Het |
| Ncor1 |
A |
C |
11: 62,234,167 (GRCm39) |
I669R |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,202,935 (GRCm39) |
I210V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,357,194 (GRCm39) |
C657R |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,442 (GRCm39) |
T260I |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,334,042 (GRCm39) |
M102K |
probably benign |
Het |
| Obscn |
G |
A |
11: 59,015,587 (GRCm39) |
R1054C |
possibly damaging |
Het |
| Or10ag58 |
T |
A |
2: 87,265,496 (GRCm39) |
F222I |
probably benign |
Het |
| Or1j20 |
C |
A |
2: 36,760,000 (GRCm39) |
Q141K |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,390 (GRCm39) |
M283V |
possibly damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,524 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
| Or5p75-ps1 |
G |
A |
7: 108,107,450 (GRCm39) |
M62I |
probably damaging |
Het |
| Otol1 |
C |
A |
3: 69,926,211 (GRCm39) |
Q129K |
probably benign |
Het |
| Otx1 |
A |
T |
11: 21,948,532 (GRCm39) |
|
probably null |
Het |
| Pcdhac2 |
C |
A |
18: 37,279,304 (GRCm39) |
N761K |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,127,609 (GRCm39) |
M452K |
probably damaging |
Het |
| Phkg2 |
T |
C |
7: 127,173,113 (GRCm39) |
Y24H |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prg4 |
C |
T |
1: 150,336,432 (GRCm39) |
C97Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,093,352 (GRCm39) |
V64A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,289,231 (GRCm39) |
K324E |
probably damaging |
Het |
| Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
| Riiad1 |
T |
C |
3: 94,380,170 (GRCm39) |
T42A |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,317,841 (GRCm39) |
V640A |
possibly damaging |
Het |
| Rnpep |
G |
T |
1: 135,190,770 (GRCm39) |
S592Y |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,207,458 (GRCm39) |
L431P |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,915,281 (GRCm39) |
I1437F |
possibly damaging |
Het |
| Skic3 |
T |
A |
13: 76,331,055 (GRCm39) |
M1495K |
probably damaging |
Het |
| Skint1 |
T |
C |
4: 111,885,530 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
A |
G |
4: 53,543,644 (GRCm39) |
E396G |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,639,867 (GRCm39) |
F521S |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,129 (GRCm39) |
S394R |
probably damaging |
Het |
| Socs1 |
A |
G |
16: 10,602,549 (GRCm39) |
S63P |
probably benign |
Het |
| Spopfm2 |
C |
T |
3: 94,083,623 (GRCm39) |
G63R |
probably damaging |
Het |
| Sun1 |
T |
G |
5: 139,211,088 (GRCm39) |
S20A |
possibly damaging |
Het |
| Tac4 |
A |
T |
11: 95,156,068 (GRCm39) |
K50* |
probably null |
Het |
| Tasor |
T |
A |
14: 27,151,071 (GRCm39) |
W16R |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,574 (GRCm39) |
I151T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,253 (GRCm39) |
K24801* |
probably null |
Het |
| Tuba3b |
G |
T |
6: 145,566,999 (GRCm39) |
M413I |
possibly damaging |
Het |
| Ufl1 |
C |
T |
4: 25,267,832 (GRCm39) |
A280T |
possibly damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,532 (GRCm39) |
I212L |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,459 (GRCm39) |
T685A |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,773,878 (GRCm39) |
V183D |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,642,917 (GRCm39) |
N4093S |
probably benign |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,653 (GRCm39) |
S121N |
probably damaging |
Het |
| Vmn1r47 |
A |
G |
6: 89,999,740 (GRCm39) |
S291G |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,701,449 (GRCm39) |
V17A |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,176 (GRCm39) |
H573L |
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,847,858 (GRCm39) |
V342I |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,051,204 (GRCm39) |
M2226V |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,963 (GRCm39) |
H230Y |
probably damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,465 (GRCm39) |
K599N |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,720 (GRCm39) |
T401K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGTCTTGTTCCCCTTGC -3'
(R):5'- TGTCTGAGGATTGAGAACACAG -3'
Sequencing Primer
(F):5'- TAACGATGATGAGGACCTGACCC -3'
(R):5'- CAGATGGAAAAGCTGTAGCATGGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation