Incidental Mutation 'IGL01633:Tbx15'
ID |
93623 |
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: 0.931)
|
Stock # |
IGL01633
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 99220358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 150
(I150S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
[ENSMUST00000150756]
[ENSMUST00000151606]
|
AlphaFold |
O70306 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029462
AA Change: I150S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029462 Gene: ENSMUSG00000027868 AA Change: I150S
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150756
AA Change: I44S
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000142358 Gene: ENSMUSG00000027868 AA Change: I44S
Domain | Start | End | E-Value | Type |
TBOX
|
6 |
142 |
2.4e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151606
AA Change: I44S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143417 Gene: ENSMUSG00000027868 AA Change: I44S
Domain | Start | End | E-Value | Type |
Pfam:T-box
|
8 |
51 |
1.1e-17 |
PFAM |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
A |
2: 25,334,406 (GRCm39) |
S1868T |
possibly damaging |
Het |
Abca3 |
G |
A |
17: 24,616,327 (GRCm39) |
W923* |
probably null |
Het |
Abca8b |
A |
G |
11: 109,827,580 (GRCm39) |
M1476T |
probably damaging |
Het |
Abi3bp |
T |
C |
16: 56,498,163 (GRCm39) |
F729S |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,356,919 (GRCm39) |
|
probably benign |
Het |
Aldh3a2 |
A |
G |
11: 61,139,731 (GRCm39) |
L467P |
probably benign |
Het |
Appl1 |
T |
C |
14: 26,684,795 (GRCm39) |
T85A |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,408,574 (GRCm39) |
I2487N |
possibly damaging |
Het |
Bcl2a1c |
G |
A |
9: 114,159,290 (GRCm39) |
V23I |
probably benign |
Het |
C2cd2 |
T |
A |
16: 97,676,323 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,731,684 (GRCm39) |
H170L |
possibly damaging |
Het |
Ccdc141 |
C |
T |
2: 76,919,593 (GRCm39) |
V305I |
probably benign |
Het |
Ccdc174 |
G |
A |
6: 91,857,343 (GRCm39) |
|
probably null |
Het |
Cep126 |
T |
G |
9: 8,103,320 (GRCm39) |
Q230P |
possibly damaging |
Het |
Chrm1 |
T |
C |
19: 8,655,859 (GRCm39) |
I188T |
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,081,544 (GRCm39) |
S569P |
probably damaging |
Het |
Drc1 |
G |
A |
5: 30,503,007 (GRCm39) |
E177K |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,164,279 (GRCm39) |
E913G |
probably benign |
Het |
Fbxw9 |
T |
C |
8: 85,791,055 (GRCm39) |
S241P |
probably damaging |
Het |
Fez2 |
C |
A |
17: 78,712,147 (GRCm39) |
|
probably benign |
Het |
Fga |
G |
T |
3: 82,937,606 (GRCm39) |
R161L |
possibly damaging |
Het |
Fn3krp |
G |
T |
11: 121,320,533 (GRCm39) |
G293* |
probably null |
Het |
Gfra1 |
C |
T |
19: 58,255,479 (GRCm39) |
E318K |
probably benign |
Het |
Gli3 |
C |
T |
13: 15,823,219 (GRCm39) |
P314S |
probably damaging |
Het |
Gm5114 |
A |
T |
7: 39,057,490 (GRCm39) |
S710T |
probably benign |
Het |
Gpr141 |
T |
C |
13: 19,936,769 (GRCm39) |
D2G |
probably benign |
Het |
Inppl1 |
G |
A |
7: 101,483,041 (GRCm39) |
Q63* |
probably null |
Het |
Lrrc73 |
T |
A |
17: 46,566,657 (GRCm39) |
V169E |
possibly damaging |
Het |
Lsm11 |
C |
T |
11: 45,824,615 (GRCm39) |
R304Q |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,395,964 (GRCm39) |
D788G |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,533,898 (GRCm39) |
D1844E |
probably damaging |
Het |
Nt5c |
A |
G |
11: 115,382,161 (GRCm39) |
F73L |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,854,085 (GRCm39) |
I541N |
probably damaging |
Het |
Phrf1 |
A |
G |
7: 140,840,413 (GRCm39) |
I1203V |
probably benign |
Het |
Pram1 |
C |
A |
17: 33,861,109 (GRCm39) |
P510Q |
possibly damaging |
Het |
Prepl |
A |
G |
17: 85,379,444 (GRCm39) |
Y415H |
probably benign |
Het |
Prss27 |
A |
T |
17: 24,264,650 (GRCm39) |
H271L |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,510,989 (GRCm39) |
S287G |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,535,584 (GRCm39) |
|
probably benign |
Het |
Sars2 |
A |
G |
7: 28,446,974 (GRCm39) |
K218E |
probably benign |
Het |
Senp6 |
G |
T |
9: 79,999,676 (GRCm39) |
S31I |
probably damaging |
Het |
Shld2 |
G |
T |
14: 33,971,136 (GRCm39) |
T31K |
probably damaging |
Het |
Skint6 |
C |
A |
4: 113,095,246 (GRCm39) |
V138F |
probably damaging |
Het |
Slc4a8 |
C |
A |
15: 100,685,128 (GRCm39) |
H168N |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 38,959,125 (GRCm39) |
N103D |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,222,809 (GRCm39) |
N170D |
probably damaging |
Het |
Tmem108 |
A |
T |
9: 103,361,950 (GRCm39) |
N545K |
probably benign |
Het |
Trub1 |
A |
G |
19: 57,441,616 (GRCm39) |
K80E |
possibly damaging |
Het |
Tulp3 |
A |
T |
6: 128,302,923 (GRCm39) |
Y299N |
probably 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 |
IGL02338:Tbx15
|
APN |
3 |
99,259,800 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-09 |