Incidental Mutation 'IGL02625:Tcf12'
| ID |
301046 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tcf12
|
| Ensembl Gene |
ENSMUSG00000032228 |
| Gene Name |
transcription factor 12 |
| Synonyms |
REB, HTF-4, HTF4, HEB, ALF1, HEBAlt, bHLHb20, ME1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 71830039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 141
(G141W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183992]
[ENSMUST00000184523]
[ENSMUST00000184072]
[ENSMUST00000185117]
[ENSMUST00000184783]
[ENSMUST00000184107]
[ENSMUST00000184867]
[ENSMUST00000184416]
|
| AlphaFold |
Q61286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034755
AA Change: G141W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: G141W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
177 |
200 |
7e-8 |
PDB |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
HLH
|
607 |
660 |
7.54e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183404
AA Change: G141W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: G141W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
177 |
200 |
7e-8 |
PDB |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
HLH
|
607 |
660 |
7.54e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183492
|
| SMART Domains |
Protein: ENSMUSP00000138939
Gene: ENSMUSG00000032228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183594
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183647
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183992
AA Change: G141W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: G141W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
177 |
200 |
5e-8 |
PDB |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184029
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184523
AA Change: G137W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: G137W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
173 |
196 |
6e-8 |
PDB |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
568 |
N/A |
INTRINSIC |
|
HLH
|
603 |
656 |
7.54e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184072
AA Change: G49W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139284
Gene: ENSMUSG00000032228
AA Change: G49W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
85 |
108 |
4e-8 |
PDB |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185117
AA Change: G141W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: G141W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
177 |
200 |
7e-8 |
PDB |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
HLH
|
583 |
636 |
7.54e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184783
AA Change: G141W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: G141W
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4JOL|H
|
177 |
200 |
7e-8 |
PDB |
|
low complexity region
|
208 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
HLH
|
607 |
660 |
7.54e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184416
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit postnatal lethality within two weeks of birth and a 50% reduction in the number of pro-B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg6 |
T |
A |
4: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
| Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
| Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
| Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,796,709 (GRCm39) |
E552* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
| Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
| Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
| H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,674,422 (GRCm39) |
E728G |
probably benign |
Het |
| Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
| Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
| Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
| Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
| Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
| Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
| Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,999 (GRCm39) |
S339T |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,239 (GRCm39) |
K133E |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,704 (GRCm39) |
Y393C |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tcf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Tcf12
|
APN |
9 |
71,775,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01311:Tcf12
|
APN |
9 |
71,765,938 (GRCm39) |
splice site |
probably benign |
|
|
IGL01734:Tcf12
|
APN |
9 |
71,829,930 (GRCm39) |
splice site |
probably null |
|
|
IGL01768:Tcf12
|
APN |
9 |
71,776,278 (GRCm39) |
splice site |
probably null |
|
|
IGL02671:Tcf12
|
APN |
9 |
72,016,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Tcf12
|
APN |
9 |
71,783,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Beneath
|
UTSW |
9 |
71,790,385 (GRCm39) |
splice site |
probably null |
|
|
depauperate
|
UTSW |
9 |
71,775,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Poorly
|
UTSW |
9 |
71,851,298 (GRCm39) |
nonsense |
probably null |
|
|
Poorly2
|
UTSW |
9 |
71,766,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Poorly3
|
UTSW |
9 |
71,922,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
Substandard
|
UTSW |
9 |
71,766,122 (GRCm39) |
missense |
probably null |
0.54 |
|
R0183:Tcf12
|
UTSW |
9 |
71,824,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0257:Tcf12
|
UTSW |
9 |
71,765,904 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1126:Tcf12
|
UTSW |
9 |
71,907,715 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1520:Tcf12
|
UTSW |
9 |
71,790,388 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1690:Tcf12
|
UTSW |
9 |
71,777,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1819:Tcf12
|
UTSW |
9 |
72,016,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Tcf12
|
UTSW |
9 |
71,775,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Tcf12
|
UTSW |
9 |
71,765,816 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1888:Tcf12
|
UTSW |
9 |
71,765,816 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2402:Tcf12
|
UTSW |
9 |
71,763,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Tcf12
|
UTSW |
9 |
71,776,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4693:Tcf12
|
UTSW |
9 |
71,776,249 (GRCm39) |
intron |
probably benign |
|
|
R4814:Tcf12
|
UTSW |
9 |
71,777,323 (GRCm39) |
intron |
probably benign |
|
|
R4860:Tcf12
|
UTSW |
9 |
71,766,122 (GRCm39) |
missense |
probably null |
0.54 |
|
R4860:Tcf12
|
UTSW |
9 |
71,766,122 (GRCm39) |
missense |
probably null |
0.54 |
|
R4885:Tcf12
|
UTSW |
9 |
71,766,122 (GRCm39) |
missense |
probably null |
0.54 |
|
R5347:Tcf12
|
UTSW |
9 |
71,792,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Tcf12
|
UTSW |
9 |
71,776,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Tcf12
|
UTSW |
9 |
71,792,584 (GRCm39) |
splice site |
probably null |
|
|
R5713:Tcf12
|
UTSW |
9 |
71,792,545 (GRCm39) |
makesense |
probably null |
|
|
R5789:Tcf12
|
UTSW |
9 |
71,792,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Tcf12
|
UTSW |
9 |
71,775,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Tcf12
|
UTSW |
9 |
71,766,229 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6119:Tcf12
|
UTSW |
9 |
71,775,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Tcf12
|
UTSW |
9 |
71,851,298 (GRCm39) |
nonsense |
probably null |
|
|
R6299:Tcf12
|
UTSW |
9 |
71,766,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Tcf12
|
UTSW |
9 |
71,775,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Tcf12
|
UTSW |
9 |
71,922,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6984:Tcf12
|
UTSW |
9 |
71,914,041 (GRCm39) |
nonsense |
probably null |
|
|
R7146:Tcf12
|
UTSW |
9 |
71,790,385 (GRCm39) |
splice site |
probably null |
|
|
R7734:Tcf12
|
UTSW |
9 |
71,829,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8007:Tcf12
|
UTSW |
9 |
71,841,905 (GRCm39) |
intron |
probably benign |
|
|
R8161:Tcf12
|
UTSW |
9 |
71,922,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Tcf12
|
UTSW |
9 |
71,830,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8709:Tcf12
|
UTSW |
9 |
71,765,787 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8711:Tcf12
|
UTSW |
9 |
71,757,097 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9444:Tcf12
|
UTSW |
9 |
72,018,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Tcf12
|
UTSW |
9 |
71,792,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Tcf12
|
UTSW |
9 |
71,790,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0022:Tcf12
|
UTSW |
9 |
72,017,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tcf12
|
UTSW |
9 |
71,907,742 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
| Posted On |
2015-04-16 |
Incidental Mutation