Incidental Mutation 'IGL02628:T'
| ID |
301174 |
| 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 # |
IGL02628
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
8653255-8661328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8654190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 125
(I125N)
|
| 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: I125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: I125N
| 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: I55N
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119581
Gene: ENSMUSG00000062327
AA Change: I55N
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
| Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
| Camkk1 |
T |
C |
11: 72,919,995 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,639,019 (GRCm39) |
R328W |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
| Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
| Hsd17b7 |
A |
G |
1: 169,792,058 (GRCm39) |
F117L |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
| Opn4 |
T |
A |
14: 34,315,014 (GRCm39) |
T420S |
probably benign |
Het |
| Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
| Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
| Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
| Zng1 |
T |
A |
19: 24,935,269 (GRCm39) |
E78D |
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 |
|
|
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 |
|
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