Incidental Mutation 'R9095:Tcf4'
| ID |
691321 |
| 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 |
068910-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9095 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69598464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 106
(D106N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000128706]
[ENSMUST00000201124]
[ENSMUST00000201235]
[ENSMUST00000201288]
[ENSMUST00000201299]
[ENSMUST00000201537]
[ENSMUST00000201631]
[ENSMUST00000201781]
[ENSMUST00000202074]
[ENSMUST00000202116]
[ENSMUST00000202354]
[ENSMUST00000202435]
[ENSMUST00000202458]
[ENSMUST00000202610]
[ENSMUST00000202674]
[ENSMUST00000202772]
[ENSMUST00000203002]
|
| AlphaFold |
Q60722 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066717
AA Change: D106N
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
AA Change: D106N
| 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
AA Change: D84N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
AA Change: D84N
| 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
AA Change: D84N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
AA Change: D84N
| 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
AA Change: D84N
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
AA Change: D84N
| 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
AA Change: D84N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
AA Change: D84N
| 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 damaging
Transcript: ENSMUST00000128706
AA Change: D60N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| 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: ENSMUST00000201235
AA Change: D60N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201299
AA Change: D60N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201537
AA Change: D60N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201631
AA Change: D60N
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144285
Gene: ENSMUSG00000053477
AA Change: D60N
| 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
AA Change: D60N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144209
Gene: ENSMUSG00000053477
AA Change: D60N
| 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 |
possibly damaging
Transcript: ENSMUST00000202074
AA Change: D60N
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202116
AA Change: D84N
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144512
Gene: ENSMUSG00000053477
AA Change: D84N
| 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 |
possibly damaging
Transcript: ENSMUST00000202354
AA Change: D60N
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144646
Gene: ENSMUSG00000053477
AA Change: D60N
| 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
AA Change: D60N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144407
Gene: ENSMUSG00000053477
AA Change: D60N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
198 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
518 |
N/A |
INTRINSIC |
|
HLH
|
549 |
602 |
1.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202458
AA Change: D5N
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143875
Gene: ENSMUSG00000053477
AA Change: D5N
| 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: ENSMUST00000202610
AA Change: D84N
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144670
Gene: ENSMUSG00000053477
AA Change: D84N
| 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 |
possibly damaging
Transcript: ENSMUST00000202674
AA Change: D60N
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144221
Gene: ENSMUSG00000053477
AA Change: D60N
| 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: ENSMUST00000202772
AA Change: D84N
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143987
Gene: ENSMUSG00000053477
AA Change: D84N
| 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
AA Change: D84N
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,500,370 (GRCm39) |
V1274M |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,556 (GRCm39) |
H2202R |
possibly damaging |
Het |
| Ablim3 |
A |
G |
18: 61,953,463 (GRCm39) |
L350P |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,654,117 (GRCm39) |
T449I |
probably damaging |
Het |
| Ankrd39 |
T |
A |
1: 36,586,241 (GRCm39) |
D9V |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,835,819 (GRCm39) |
V192A |
probably damaging |
Het |
| Art4 |
C |
T |
6: 136,834,269 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
T |
3: 103,553,254 (GRCm39) |
V29E |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,949,466 (GRCm39) |
K1574* |
probably null |
Het |
| Cfap54 |
T |
G |
10: 92,846,882 (GRCm39) |
T1028P |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,532,254 (GRCm39) |
R517H |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,914,665 (GRCm39) |
T94A |
probably benign |
Het |
| Cpne1 |
T |
A |
2: 155,918,210 (GRCm39) |
|
probably null |
Het |
| Csnk2a1-ps3 |
A |
T |
1: 156,352,213 (GRCm39) |
Y138F |
probably benign |
Het |
| Cyp2f2 |
T |
A |
7: 26,830,667 (GRCm39) |
M346K |
possibly damaging |
Het |
| D130040H23Rik |
AAGAATATATTCTACAGAATATA |
AAGAATATA |
8: 69,755,748 (GRCm39) |
|
probably null |
Het |
| Ddi2 |
T |
A |
4: 141,419,590 (GRCm39) |
I387F |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,523,282 (GRCm39) |
N103S |
probably damaging |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,156,666 (GRCm39) |
I1464V |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,044,012 (GRCm39) |
Y314C |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,782,964 (GRCm39) |
E675G |
probably damaging |
Het |
| Fam114a1 |
A |
C |
5: 65,188,733 (GRCm39) |
I488L |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,647,149 (GRCm39) |
I1547S |
probably null |
Het |
| Garre1 |
A |
T |
7: 33,956,770 (GRCm39) |
|
probably null |
Het |
| Get1 |
T |
A |
16: 95,954,244 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
T |
A |
2: 176,413,045 (GRCm39) |
Y312* |
probably null |
Het |
| Golm2 |
T |
A |
2: 121,756,096 (GRCm39) |
L375Q |
probably damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,641 (GRCm39) |
T119A |
possibly damaging |
Het |
| Harbi1 |
T |
G |
2: 91,542,980 (GRCm39) |
V147G |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
| Ighv13-2 |
C |
A |
12: 114,321,494 (GRCm39) |
A82S |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,364,352 (GRCm39) |
D827E |
probably benign |
Het |
| Krtap4-2 |
C |
T |
11: 99,525,801 (GRCm39) |
G17D |
unknown |
Het |
| Ly6a |
A |
T |
15: 74,867,333 (GRCm39) |
|
probably benign |
Het |
| Mad1l1 |
C |
T |
5: 140,288,741 (GRCm39) |
E203K |
probably damaging |
Het |
| Mapk14 |
C |
A |
17: 28,934,413 (GRCm39) |
D101E |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,917,764 (GRCm39) |
G306W |
probably damaging |
Het |
| Mixl1 |
T |
C |
1: 180,524,402 (GRCm39) |
D59G |
probably benign |
Het |
| Nav2 |
G |
A |
7: 49,254,293 (GRCm39) |
V2364M |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 50,506,150 (GRCm39) |
S786P |
possibly damaging |
Het |
| Or13a25 |
T |
G |
7: 140,247,813 (GRCm39) |
N197K |
probably damaging |
Het |
| Or51e2 |
C |
A |
7: 102,391,473 (GRCm39) |
V246L |
possibly damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,687 (GRCm39) |
L228P |
probably damaging |
Het |
| Or5b107 |
T |
G |
19: 13,143,310 (GRCm39) |
S311A |
probably benign |
Het |
| Pcdhgb8 |
A |
T |
18: 37,896,052 (GRCm39) |
D374V |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,386 (GRCm39) |
I294T |
probably benign |
Het |
| Plekha4 |
C |
T |
7: 45,190,492 (GRCm39) |
A400V |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,341,760 (GRCm39) |
F63S |
probably damaging |
Het |
| Pramel4 |
C |
A |
4: 143,794,928 (GRCm39) |
D441E |
probably benign |
Het |
| Prr12 |
G |
A |
7: 44,695,267 (GRCm39) |
P1400S |
unknown |
Het |
| Prss3b |
T |
A |
6: 41,010,038 (GRCm39) |
N99Y |
possibly damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,089 (GRCm39) |
Q608* |
probably null |
Het |
| Scamp1 |
T |
A |
13: 94,369,598 (GRCm39) |
I76F |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sirt1 |
A |
T |
10: 63,158,077 (GRCm39) |
S446T |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,019,404 (GRCm39) |
K336R |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,912,092 (GRCm39) |
V321F |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,620 (GRCm39) |
Y81C |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,519,525 (GRCm39) |
K321R |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,584 (GRCm39) |
F242S |
probably damaging |
Het |
| Tanc2 |
T |
G |
11: 105,758,104 (GRCm39) |
S622A |
probably benign |
Het |
| Tfrc |
T |
A |
16: 32,433,571 (GRCm39) |
I75N |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,187,509 (GRCm39) |
W125* |
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,952,745 (GRCm39) |
T1530A |
possibly damaging |
Het |
| Tmem132a |
T |
A |
19: 10,844,412 (GRCm39) |
H62L |
probably benign |
Het |
| Tmem89 |
T |
C |
9: 108,743,729 (GRCm39) |
S10P |
unknown |
Het |
| Trrap |
C |
T |
5: 144,733,961 (GRCm39) |
P938L |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,545,912 (GRCm39) |
P488T |
probably damaging |
Het |
| Uri1 |
C |
A |
7: 37,662,873 (GRCm39) |
G374C |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,644 (GRCm39) |
T772K |
probably benign |
Het |
| Zbtb37 |
A |
T |
1: 160,847,941 (GRCm39) |
Y355* |
probably null |
Het |
| Zfp3 |
A |
G |
11: 70,662,405 (GRCm39) |
I121M |
probably benign |
Het |
| Zfp629 |
A |
T |
7: 127,209,547 (GRCm39) |
L754Q |
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 |
|
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 |
|
|
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'- CTTACAGTGAGATTGCATGGGG -3'
(R):5'- CTGACGATATTCACACGCATCTTG -3'
Sequencing Primer
(F):5'- TGCATGGGGTATCTGATAACCAACC -3'
(R):5'- CCATCCTTTGGGAGCACTATAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation