Incidental Mutation 'IGL02338:Tbx15'
ID |
288931 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbx15
|
Ensembl Gene |
ENSMUSG00000027868 |
Gene Name |
T-box 15 |
Synonyms |
Tbx8, de, Tbx14 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
IGL02338
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99259800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 557
(Y557C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
AlphaFold |
O70306 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029462
AA Change: Y557C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029462 Gene: ENSMUSG00000027868 AA Change: Y557C
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
TBOX
|
112 |
309 |
8.05e-131 |
SMART |
Blast:TBOX
|
310 |
482 |
8e-83 |
BLAST |
low complexity region
|
486 |
492 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009] PHENOTYPE: Homozygous mutants have low set ears that project laterally, skeletal abnormalities and distinctive dorsoventral coat color patterning. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
A |
4: 132,789,860 (GRCm39) |
C367Y |
possibly damaging |
Het |
AI182371 |
T |
A |
2: 34,975,728 (GRCm39) |
I279L |
probably benign |
Het |
Ambp |
A |
T |
4: 63,061,934 (GRCm39) |
C332S |
probably damaging |
Het |
App |
T |
C |
16: 84,970,407 (GRCm39) |
T14A |
probably benign |
Het |
Asap1 |
A |
T |
15: 63,995,519 (GRCm39) |
|
probably null |
Het |
Aurka |
T |
C |
2: 172,201,778 (GRCm39) |
R242G |
probably benign |
Het |
BC034090 |
G |
A |
1: 155,093,217 (GRCm39) |
P747L |
probably damaging |
Het |
Bcl6b |
T |
C |
11: 70,119,918 (GRCm39) |
D23G |
probably damaging |
Het |
Cabp2 |
A |
C |
19: 4,134,154 (GRCm39) |
E42A |
possibly damaging |
Het |
Ccdc14 |
G |
A |
16: 34,542,173 (GRCm39) |
S557N |
probably benign |
Het |
Ccdc146 |
G |
T |
5: 21,524,604 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
A |
1: 189,412,615 (GRCm39) |
Q216L |
probably damaging |
Het |
Ces1b |
G |
A |
8: 93,783,675 (GRCm39) |
P515L |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,829 (GRCm39) |
N2198K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,288,859 (GRCm39) |
S1133G |
possibly damaging |
Het |
Cspg5 |
G |
A |
9: 110,085,335 (GRCm39) |
R502H |
probably benign |
Het |
Cyp2g1 |
A |
G |
7: 26,514,229 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,146,229 (GRCm39) |
Y86C |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,202,783 (GRCm39) |
D715G |
probably damaging |
Het |
Dock1 |
G |
T |
7: 134,734,804 (GRCm39) |
L1317F |
possibly damaging |
Het |
Fanci |
T |
A |
7: 79,083,279 (GRCm39) |
Y727* |
probably null |
Het |
Fbxw20 |
T |
A |
9: 109,055,046 (GRCm39) |
T168S |
probably benign |
Het |
Folh1 |
A |
T |
7: 86,385,723 (GRCm39) |
|
probably benign |
Het |
Gas7 |
A |
T |
11: 67,573,557 (GRCm39) |
S379C |
probably damaging |
Het |
Gbp2b |
A |
G |
3: 142,309,987 (GRCm39) |
E259G |
probably benign |
Het |
Gm8325 |
T |
C |
3: 60,784,805 (GRCm39) |
|
noncoding transcript |
Het |
Gpr75 |
A |
T |
11: 30,841,730 (GRCm39) |
T212S |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,898,795 (GRCm39) |
T1711A |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,184,796 (GRCm39) |
S453G |
probably benign |
Het |
Maneal |
A |
G |
4: 124,754,276 (GRCm39) |
|
probably benign |
Het |
Marco |
A |
T |
1: 120,422,508 (GRCm39) |
I58N |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,965 (GRCm39) |
I647T |
probably damaging |
Het |
Mtfr1l |
A |
T |
4: 134,258,054 (GRCm39) |
V56D |
probably damaging |
Het |
Npy1r |
G |
A |
8: 67,156,954 (GRCm39) |
V125I |
probably damaging |
Het |
Or1j19 |
C |
T |
2: 36,676,557 (GRCm39) |
Q7* |
probably null |
Het |
Or52n20 |
T |
C |
7: 104,320,888 (GRCm39) |
|
probably benign |
Het |
Or7g25 |
A |
G |
9: 19,159,960 (GRCm39) |
L245P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,867,210 (GRCm39) |
L362* |
probably null |
Het |
Pdlim2 |
T |
C |
14: 70,411,906 (GRCm39) |
D42G |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,842,100 (GRCm39) |
I89N |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,104,047 (GRCm39) |
M1175K |
probably benign |
Het |
Pzp |
T |
A |
6: 128,463,133 (GRCm39) |
N1423I |
probably benign |
Het |
Retnla |
G |
A |
16: 48,664,561 (GRCm39) |
C105Y |
probably damaging |
Het |
Samd8 |
T |
A |
14: 21,825,544 (GRCm39) |
S167T |
possibly damaging |
Het |
Scg2 |
A |
G |
1: 79,414,210 (GRCm39) |
M171T |
possibly damaging |
Het |
Slc30a5 |
A |
G |
13: 100,939,941 (GRCm39) |
V658A |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,455 (GRCm39) |
R7G |
possibly damaging |
Het |
Slc44a2 |
A |
G |
9: 21,258,338 (GRCm39) |
T500A |
probably damaging |
Het |
Slc44a4 |
G |
T |
17: 35,142,786 (GRCm39) |
G396V |
possibly damaging |
Het |
Smarca5 |
A |
G |
8: 81,446,199 (GRCm39) |
|
probably benign |
Het |
St8sia6 |
T |
A |
2: 13,798,156 (GRCm39) |
R34W |
probably damaging |
Het |
Stk-ps2 |
T |
A |
1: 46,069,337 (GRCm39) |
|
noncoding transcript |
Het |
Stn1 |
T |
C |
19: 47,502,329 (GRCm39) |
Y235C |
probably damaging |
Het |
Tgfbr1 |
G |
A |
4: 47,393,490 (GRCm39) |
|
probably null |
Het |
Thsd7b |
G |
T |
1: 129,523,508 (GRCm39) |
V181L |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,976,422 (GRCm39) |
R51S |
probably damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,671 (GRCm39) |
T197S |
probably damaging |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,697,160 (GRCm39) |
I739T |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,859,880 (GRCm39) |
D424G |
probably benign |
Het |
Yap1 |
A |
G |
9: 7,962,282 (GRCm39) |
|
probably null |
Het |
Zer1 |
T |
C |
2: 30,003,405 (GRCm39) |
D4G |
probably damaging |
Het |
Zfp462 |
A |
T |
4: 55,010,292 (GRCm39) |
I753F |
possibly damaging |
Het |
|
Other mutations in Tbx15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Tbx15
|
APN |
3 |
99,223,562 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01458:Tbx15
|
APN |
3 |
99,223,544 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01633:Tbx15
|
APN |
3 |
99,220,358 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02415:Tbx15
|
APN |
3 |
99,259,826 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03143:Tbx15
|
APN |
3 |
99,259,514 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03201:Tbx15
|
APN |
3 |
99,259,296 (GRCm39) |
missense |
probably benign |
0.00 |
shin_guard
|
UTSW |
3 |
99,259,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
Shortcut
|
UTSW |
3 |
99,220,389 (GRCm39) |
nonsense |
probably null |
|
R0012:Tbx15
|
UTSW |
3 |
99,259,412 (GRCm39) |
missense |
probably benign |
|
R0109:Tbx15
|
UTSW |
3 |
99,259,182 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0277:Tbx15
|
UTSW |
3 |
99,259,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Tbx15
|
UTSW |
3 |
99,223,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Tbx15
|
UTSW |
3 |
99,223,639 (GRCm39) |
missense |
probably damaging |
0.98 |
R1347:Tbx15
|
UTSW |
3 |
99,259,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1347:Tbx15
|
UTSW |
3 |
99,259,427 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1506:Tbx15
|
UTSW |
3 |
99,259,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1681:Tbx15
|
UTSW |
3 |
99,259,140 (GRCm39) |
splice site |
probably null |
|
R1762:Tbx15
|
UTSW |
3 |
99,259,260 (GRCm39) |
nonsense |
probably null |
|
R1789:Tbx15
|
UTSW |
3 |
99,259,562 (GRCm39) |
nonsense |
probably null |
|
R2167:Tbx15
|
UTSW |
3 |
99,233,771 (GRCm39) |
splice site |
probably benign |
|
R2254:Tbx15
|
UTSW |
3 |
99,259,190 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2357:Tbx15
|
UTSW |
3 |
99,223,672 (GRCm39) |
splice site |
probably null |
|
R2441:Tbx15
|
UTSW |
3 |
99,259,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R3010:Tbx15
|
UTSW |
3 |
99,161,209 (GRCm39) |
intron |
probably benign |
|
R3118:Tbx15
|
UTSW |
3 |
99,259,470 (GRCm39) |
missense |
probably damaging |
0.96 |
R4081:Tbx15
|
UTSW |
3 |
99,220,370 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4610:Tbx15
|
UTSW |
3 |
99,259,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R4898:Tbx15
|
UTSW |
3 |
99,259,583 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4950:Tbx15
|
UTSW |
3 |
99,233,700 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4982:Tbx15
|
UTSW |
3 |
99,161,390 (GRCm39) |
missense |
probably benign |
0.06 |
R4999:Tbx15
|
UTSW |
3 |
99,223,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5236:Tbx15
|
UTSW |
3 |
99,259,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5339:Tbx15
|
UTSW |
3 |
99,223,600 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5364:Tbx15
|
UTSW |
3 |
99,259,508 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5493:Tbx15
|
UTSW |
3 |
99,259,880 (GRCm39) |
missense |
probably benign |
|
R5690:Tbx15
|
UTSW |
3 |
99,216,166 (GRCm39) |
missense |
probably damaging |
0.99 |
R5756:Tbx15
|
UTSW |
3 |
99,220,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Tbx15
|
UTSW |
3 |
99,259,833 (GRCm39) |
missense |
probably benign |
0.28 |
R6032:Tbx15
|
UTSW |
3 |
99,259,833 (GRCm39) |
missense |
probably benign |
0.28 |
R6156:Tbx15
|
UTSW |
3 |
99,220,431 (GRCm39) |
critical splice donor site |
probably null |
|
R6173:Tbx15
|
UTSW |
3 |
99,161,203 (GRCm39) |
nonsense |
probably null |
|
R6596:Tbx15
|
UTSW |
3 |
99,259,508 (GRCm39) |
missense |
probably benign |
|
R6680:Tbx15
|
UTSW |
3 |
99,220,389 (GRCm39) |
nonsense |
probably null |
|
R6931:Tbx15
|
UTSW |
3 |
99,259,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Tbx15
|
UTSW |
3 |
99,161,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R8155:Tbx15
|
UTSW |
3 |
99,259,886 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8230:Tbx15
|
UTSW |
3 |
99,259,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Tbx15
|
UTSW |
3 |
99,220,376 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8929:Tbx15
|
UTSW |
3 |
99,222,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Tbx15
|
UTSW |
3 |
99,222,085 (GRCm39) |
missense |
probably benign |
0.14 |
R9688:Tbx15
|
UTSW |
3 |
99,233,708 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9746:Tbx15
|
UTSW |
3 |
99,259,647 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Tbx15
|
UTSW |
3 |
99,222,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |