Incidental Mutation 'IGL02970:T'
| ID |
365786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
T
|
| Ensembl Gene |
ENSMUSG00000062327 |
| Gene Name |
brachyury, T-box transcription factor T |
| Synonyms |
Tbxt, Bra, T1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
IGL02970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
8653255-8661328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8654217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 134
(A134V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074667]
[ENSMUST00000136922]
[ENSMUST00000177118]
|
| AlphaFold |
P20293 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074667
AA Change: A134V
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: A134V
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
41 |
224 |
5.53e-120 |
SMART |
|
low complexity region
|
391 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136922
AA Change: A64V
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119581
Gene: ENSMUSG00000062327
AA Change: A64V
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
137 |
3.02e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177118
|
| SMART Domains |
Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
82 |
3.3e-7 |
SMART |
|
| 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 an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mice die during embryonice development. Heterozygous mice have skeletal abnormalities. On specific genetic backgrounds, some alleles cause partial or complete sex-reversal of chromosomally XY mice. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(40) : Targeted, other(2) Transgenic(1) Spontaneous(17) Chemically induced(10) Radiation induced(15)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
C |
T |
1: 53,226,748 (GRCm39) |
G5S |
probably damaging |
Het |
| A2ml1 |
A |
T |
6: 128,546,942 (GRCm39) |
F396I |
probably damaging |
Het |
| BC051019 |
T |
A |
7: 109,315,262 (GRCm39) |
N331I |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,757,557 (GRCm39) |
S912L |
possibly damaging |
Het |
| Dcaf4 |
A |
G |
12: 83,575,989 (GRCm39) |
D46G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,331,208 (GRCm39) |
R80Q |
probably damaging |
Het |
| Dnase2b |
A |
G |
3: 146,288,261 (GRCm39) |
V278A |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,914,042 (GRCm39) |
L1106F |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,101,317 (GRCm39) |
W692L |
probably damaging |
Het |
| F2 |
T |
A |
2: 91,455,896 (GRCm39) |
Y579F |
possibly damaging |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gm9772 |
A |
G |
17: 22,225,540 (GRCm39) |
F120S |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,523,819 (GRCm39) |
S251P |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,776 (GRCm39) |
E258G |
probably damaging |
Het |
| Itgam |
G |
A |
7: 127,685,215 (GRCm39) |
E443K |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,118,233 (GRCm39) |
V16A |
probably damaging |
Het |
| Lrrn3 |
T |
G |
12: 41,502,359 (GRCm39) |
S653R |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,567,242 (GRCm39) |
Y1826* |
probably null |
Het |
| Mbnl1 |
T |
C |
3: 60,520,844 (GRCm39) |
F139S |
probably damaging |
Het |
| Micu3 |
T |
C |
8: 40,835,171 (GRCm39) |
Y509H |
possibly damaging |
Het |
| Ncmap |
T |
C |
4: 135,104,329 (GRCm39) |
T17A |
probably damaging |
Het |
| Oas1h |
T |
A |
5: 120,999,698 (GRCm39) |
M61K |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,945,291 (GRCm39) |
W2183R |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,126,794 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
C |
T |
3: 95,898,214 (GRCm39) |
V150I |
probably damaging |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,135,957 (GRCm39) |
S78P |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,276,411 (GRCm39) |
S347G |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,076,559 (GRCm39) |
S208P |
probably damaging |
Het |
| Sgms1 |
A |
G |
19: 32,137,165 (GRCm39) |
Y134H |
probably damaging |
Het |
| Sult2a4 |
A |
G |
7: 13,643,831 (GRCm39) |
|
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,854,201 (GRCm39) |
T187A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,344,919 (GRCm39) |
S1595G |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,064,315 (GRCm39) |
S30P |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,990 (GRCm39) |
S151P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,583,334 (GRCm39) |
T22520S |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,627,540 (GRCm39) |
S420L |
probably damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,567 (GRCm39) |
Y83N |
possibly damaging |
Het |
|
| Other mutations in T |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00805:T
|
APN |
17 |
8,655,997 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01155:T
|
APN |
17 |
8,660,577 (GRCm39) |
splice site |
probably null |
|
|
IGL02343:T
|
APN |
17 |
8,658,732 (GRCm39) |
splice site |
probably benign |
|
|
IGL02626:T
|
APN |
17 |
8,654,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02628:T
|
APN |
17 |
8,654,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:T
|
UTSW |
17 |
8,657,474 (GRCm39) |
missense |
probably benign |
|
|
R0097:T
|
UTSW |
17 |
8,658,733 (GRCm39) |
splice site |
probably benign |
|
|
R0097:T
|
UTSW |
17 |
8,658,733 (GRCm39) |
splice site |
probably benign |
|
|
R1164:T
|
UTSW |
17 |
8,658,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1993:T
|
UTSW |
17 |
8,660,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5148:T
|
UTSW |
17 |
8,655,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:T
|
UTSW |
17 |
8,660,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5710:T
|
UTSW |
17 |
8,660,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6160:T
|
UTSW |
17 |
8,660,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6196:T
|
UTSW |
17 |
8,655,996 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6447:T
|
UTSW |
17 |
8,660,463 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8294:T
|
UTSW |
17 |
8,653,364 (GRCm39) |
start codon destroyed |
probably null |
0.25 |
|
R8813:T
|
UTSW |
17 |
8,653,532 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9802:T
|
UTSW |
17 |
8,654,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF010:T
|
UTSW |
17 |
8,660,540 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation