Incidental Mutation 'R5710:T'
| ID |
452192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
T
|
| Ensembl Gene |
ENSMUSG00000062327 |
| Gene Name |
brachyury, T-box transcription factor T |
| Synonyms |
Tbxt, Bra, T1 |
| MMRRC Submission |
044396-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R5710 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
8653255-8661328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8660474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 221
(S221P)
|
| 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: S362P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074236
Gene: ENSMUSG00000062327
AA Change: S362P
| 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
AA Change: S221P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000135526
Gene: ENSMUSG00000062327
AA Change: S221P
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
1 |
82 |
3.3e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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 |
|---|
| Adam28 |
G |
A |
14: 68,847,357 (GRCm39) |
H713Y |
probably damaging |
Het |
| Adam39 |
A |
T |
8: 41,277,684 (GRCm39) |
Y25F |
probably benign |
Het |
| Ankfn1 |
T |
C |
11: 89,394,751 (GRCm39) |
N278S |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap18 |
G |
A |
10: 26,736,729 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,081,732 (GRCm39) |
Q107P |
probably benign |
Het |
| Btbd9 |
A |
G |
17: 30,447,842 (GRCm39) |
S525P |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,482,852 (GRCm39) |
S2093P |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,781 (GRCm39) |
D86G |
possibly damaging |
Het |
| Chdh |
C |
A |
14: 29,756,584 (GRCm39) |
Q337K |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,421 (GRCm39) |
D68G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,309,409 (GRCm39) |
K41N |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,408 (GRCm39) |
Y274H |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,717 (GRCm39) |
I431N |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,317,906 (GRCm39) |
W416R |
probably damaging |
Het |
| Fgd3 |
T |
A |
13: 49,450,205 (GRCm39) |
I15F |
probably benign |
Het |
| Fkbp14 |
T |
A |
6: 54,566,255 (GRCm39) |
|
probably null |
Het |
| Havcr1 |
T |
C |
11: 46,643,353 (GRCm39) |
V91A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,751,987 (GRCm39) |
|
probably benign |
Het |
| Lipc |
T |
A |
9: 70,719,979 (GRCm39) |
I343F |
probably benign |
Het |
| Madd |
T |
C |
2: 90,984,821 (GRCm39) |
T1331A |
probably damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,553,556 (GRCm39) |
L98F |
probably damaging |
Het |
| Micall1 |
C |
A |
15: 79,011,290 (GRCm39) |
H553Q |
probably damaging |
Het |
| Mxd4 |
A |
G |
5: 34,344,671 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CC |
CCCCATCAGGC |
6: 4,756,350 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
A |
9: 72,716,922 (GRCm39) |
Y88N |
probably damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Sclt1 |
C |
A |
3: 41,618,398 (GRCm39) |
E14* |
probably null |
Het |
| Shfl |
G |
T |
9: 20,784,192 (GRCm39) |
R138L |
possibly damaging |
Het |
| Strn |
G |
A |
17: 78,995,028 (GRCm39) |
L162F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,264,578 (GRCm39) |
D511G |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,597,674 (GRCm39) |
N82T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,747,786 (GRCm39) |
R4421H |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,779,093 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,008 (GRCm39) |
Y288C |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,765,089 (GRCm39) |
S217T |
probably benign |
Het |
| Zhx2 |
T |
A |
15: 57,684,866 (GRCm39) |
Y78* |
probably null |
Het |
| Znhit1 |
C |
T |
5: 137,011,456 (GRCm39) |
C119Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACACTAAACAGTCACTGTG -3'
(R):5'- GTGTCATACTGGCTGTCAGAAATG -3'
Sequencing Primer
(F):5'- CTAAACAGTCACTGTGCTTATGGGC -3'
(R):5'- AAATGTCTGTGACTGTAGCAGCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation