Incidental Mutation 'IGL01155:T'
| ID |
53137 |
| 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 # |
IGL01155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
8653255-8661328 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 8660577 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
AA Change: S396L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: S396L
| 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 null
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,708,740 (GRCm39) |
I409N |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,219,684 (GRCm39) |
D29G |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,885,365 (GRCm39) |
T322K |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,269,207 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,915,895 (GRCm39) |
T282A |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,971,553 (GRCm39) |
T985A |
probably damaging |
Het |
| Btnl9 |
A |
G |
11: 49,066,518 (GRCm39) |
F349L |
probably damaging |
Het |
| Bves |
T |
A |
10: 45,229,955 (GRCm39) |
I253K |
probably damaging |
Het |
| Cars1 |
T |
A |
7: 143,123,586 (GRCm39) |
Y455F |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cuedc2 |
C |
A |
19: 46,321,088 (GRCm39) |
V15F |
probably damaging |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,476,986 (GRCm39) |
A2011T |
probably damaging |
Het |
| Fyb2 |
C |
T |
4: 104,856,583 (GRCm39) |
T533I |
probably benign |
Het |
| Gm1043 |
T |
C |
5: 37,344,433 (GRCm39) |
L182P |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,752,201 (GRCm39) |
V1295E |
possibly damaging |
Het |
| Il12b |
T |
A |
11: 44,294,915 (GRCm39) |
S18T |
probably benign |
Het |
| Iqcg |
A |
G |
16: 32,861,245 (GRCm39) |
V157A |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,744,207 (GRCm39) |
M937K |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,858,617 (GRCm39) |
S84G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,660,947 (GRCm39) |
T54A |
probably benign |
Het |
| Mfn1 |
A |
G |
3: 32,596,985 (GRCm39) |
M148V |
probably damaging |
Het |
| Mobp |
C |
A |
9: 119,997,300 (GRCm39) |
T73K |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,019 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,360,680 (GRCm39) |
|
probably benign |
Het |
| Mzt2 |
A |
C |
16: 15,680,274 (GRCm39) |
S104A |
possibly damaging |
Het |
| Naa16 |
T |
A |
14: 79,622,155 (GRCm39) |
K27N |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,083,991 (GRCm39) |
I1267N |
probably damaging |
Het |
| Or10j5 |
T |
A |
1: 172,784,491 (GRCm39) |
I43N |
probably benign |
Het |
| Rara |
A |
G |
11: 98,859,010 (GRCm39) |
E153G |
possibly damaging |
Het |
| Scn2a |
T |
G |
2: 65,548,092 (GRCm39) |
S66A |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,426 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
A |
G |
14: 70,436,790 (GRCm39) |
V136A |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,114,214 (GRCm39) |
H143Q |
probably benign |
Het |
| Susd2 |
G |
A |
10: 75,476,726 (GRCm39) |
T99I |
possibly damaging |
Het |
| Tac2 |
G |
A |
10: 127,562,003 (GRCm39) |
|
probably null |
Het |
| Tfap4 |
G |
T |
16: 4,365,223 (GRCm39) |
P180T |
probably damaging |
Het |
| Trap1 |
G |
A |
16: 3,861,842 (GRCm39) |
Q641* |
probably null |
Het |
| Unc119 |
A |
G |
11: 78,239,435 (GRCm39) |
N252S |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation