Incidental Mutation 'IGL02343:T'
| ID |
289205 |
| 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: 0.961)
|
| Stock # |
IGL02343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
8653255-8661328 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 8658732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074667]
[ENSMUST00000136922]
[ENSMUST00000177118]
|
| AlphaFold |
P20293 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074667
|
| SMART Domains |
Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
41 |
224 |
5.53e-120 |
SMART |
|
low complexity region
|
391 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136922
|
| SMART Domains |
Protein: ENSMUSP00000119581
Gene: ENSMUSG00000062327
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
T |
A |
2: 22,977,507 (GRCm39) |
N168K |
possibly damaging |
Het |
| Aig1 |
T |
C |
10: 13,744,418 (GRCm39) |
M29V |
probably damaging |
Het |
| Albfm1 |
C |
A |
5: 90,727,473 (GRCm39) |
H364N |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,344,894 (GRCm39) |
E28G |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,423 (GRCm39) |
N45S |
possibly damaging |
Het |
| Cables2 |
A |
G |
2: 179,902,072 (GRCm39) |
|
probably null |
Het |
| Cd109 |
A |
G |
9: 78,596,237 (GRCm39) |
|
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,331 (GRCm39) |
N259D |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,078,654 (GRCm39) |
*563R |
probably null |
Het |
| Cfap46 |
C |
T |
7: 139,262,425 (GRCm39) |
A115T |
probably damaging |
Het |
| Cry2 |
A |
T |
2: 92,257,266 (GRCm39) |
V101E |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,421,026 (GRCm39) |
Y38C |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,155,312 (GRCm39) |
Y130C |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,475,123 (GRCm39) |
T366A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,192,119 (GRCm39) |
R303H |
probably benign |
Het |
| Fbxo41 |
T |
G |
6: 85,455,153 (GRCm39) |
L617F |
possibly damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,381,723 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,070,024 (GRCm39) |
|
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,694 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
| Muc19 |
T |
G |
15: 91,778,428 (GRCm39) |
|
noncoding transcript |
Het |
| Myo15b |
A |
G |
11: 115,764,226 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,490 (GRCm39) |
L1264* |
probably null |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,335 (GRCm39) |
*137W |
probably null |
Het |
| Nrxn3 |
A |
G |
12: 88,762,123 (GRCm39) |
T57A |
probably damaging |
Het |
| Or10g3 |
T |
A |
14: 52,609,934 (GRCm39) |
D192V |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,508,825 (GRCm39) |
|
probably null |
Het |
| Rpap2 |
G |
A |
5: 107,766,047 (GRCm39) |
|
probably null |
Het |
| S100a9 |
T |
C |
3: 90,602,531 (GRCm39) |
H21R |
probably damaging |
Het |
| Spz1 |
T |
A |
13: 92,712,054 (GRCm39) |
M141L |
probably benign |
Het |
| Stk40 |
A |
G |
4: 126,030,695 (GRCm39) |
Y305C |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,869,588 (GRCm39) |
Q218R |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,704 (GRCm39) |
D2298G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,200,030 (GRCm39) |
L16Q |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,538 (GRCm39) |
I163V |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,532 (GRCm39) |
C207S |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,849 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,844 (GRCm39) |
E200G |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,815,574 (GRCm39) |
C792Y |
probably 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 |
|
|
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 |
|
IGL02970:T
|
APN |
17 |
8,654,217 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation