Incidental Mutation 'IGL02221:Tcf4'
ID |
285148 |
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 # |
IGL02221
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
69476500-69821038 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 69480438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 23
(S23R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144512
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066717]
[ENSMUST00000078486]
[ENSMUST00000114980]
[ENSMUST00000114982]
[ENSMUST00000114985]
[ENSMUST00000128706]
[ENSMUST00000202116]
[ENSMUST00000201288]
[ENSMUST00000201235]
[ENSMUST00000201781]
[ENSMUST00000201299]
[ENSMUST00000201537]
[ENSMUST00000201124]
[ENSMUST00000201631]
[ENSMUST00000202074]
[ENSMUST00000202610]
[ENSMUST00000203002]
[ENSMUST00000202772]
[ENSMUST00000202674]
[ENSMUST00000202354]
[ENSMUST00000202435]
|
AlphaFold |
Q60722 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066717
AA Change: S23R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067318 Gene: ENSMUSG00000053477 AA Change: S23R
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: S23R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077577 Gene: ENSMUSG00000053477 AA Change: S23R
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: ENSMUST00000114980
AA Change: S23R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110631 Gene: ENSMUSG00000053477 AA Change: S23R
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: S23R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110633 Gene: ENSMUSG00000053477 AA Change: S23R
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: S23R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110636 Gene: ENSMUSG00000053477 AA Change: S23R
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: ENSMUST00000128706
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202116
AA Change: S23R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144512 Gene: ENSMUSG00000053477 AA Change: S23R
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: ENSMUST00000201288
AA Change: S23R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200902
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202058
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201235
|
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: ENSMUST00000201299
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201537
|
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: 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: ENSMUST00000202074
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202610
AA Change: S23R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000144670 Gene: ENSMUSG00000053477 AA Change: S23R
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: ENSMUST00000203002
AA Change: S23R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202772
AA Change: S23R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143987 Gene: ENSMUSG00000053477 AA Change: S23R
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: 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: 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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
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 |
|
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 |