Incidental Mutation 'IGL02415:Tbx15'
| ID |
292400 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
de, Tbx14, Tbx8 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
IGL02415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
99240381-99354259 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99352510 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 566
(M566L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029462
AA Change: M566L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M566L
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,947,991 (GRCm38) |
D124G |
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,989,283 (GRCm38) |
I616N |
possibly damaging |
Het |
| Adamts3 |
T |
C |
5: 89,706,647 (GRCm38) |
|
probably null |
Het |
| Amy1 |
T |
C |
3: 113,563,585 (GRCm38) |
I202V |
probably benign |
Het |
| Bdp1 |
G |
A |
13: 100,089,408 (GRCm38) |
T322I |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,353,020 (GRCm38) |
L110S |
probably damaging |
Het |
| Cep72 |
T |
C |
13: 74,050,154 (GRCm38) |
D369G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,348,913 (GRCm38) |
|
probably benign |
Het |
| Ckmt2 |
G |
A |
13: 91,863,340 (GRCm38) |
|
probably benign |
Het |
| Cyp2s1 |
T |
C |
7: 25,808,137 (GRCm38) |
T296A |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,603,897 (GRCm38) |
V283E |
probably benign |
Het |
| F5 |
A |
G |
1: 164,191,929 (GRCm38) |
T658A |
probably damaging |
Het |
| Fam102b |
A |
G |
3: 108,980,292 (GRCm38) |
Y219H |
probably damaging |
Het |
| Gml |
A |
T |
15: 74,816,440 (GRCm38) |
Y59* |
probably null |
Het |
| Kmo |
A |
T |
1: 175,649,323 (GRCm38) |
|
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,322,572 (GRCm38) |
I107N |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,853,285 (GRCm38) |
M773V |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,660,956 (GRCm38) |
C1741Y |
probably benign |
Het |
| Med12 |
T |
C |
X: 101,281,790 (GRCm38) |
V761A |
probably damaging |
Het |
| Mrpl19 |
T |
C |
6: 81,963,961 (GRCm38) |
T150A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,751,872 (GRCm38) |
E646* |
probably null |
Het |
| Muc20 |
T |
A |
16: 32,794,681 (GRCm38) |
T109S |
unknown |
Het |
| Nr2f6 |
T |
C |
8: 71,374,512 (GRCm38) |
T382A |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,382,309 (GRCm38) |
I172T |
probably damaging |
Het |
| Olfr1434 |
A |
G |
19: 12,283,498 (GRCm38) |
Y150C |
probably benign |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,112 (GRCm38) |
C127R |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,247,955 (GRCm38) |
Q710L |
probably benign |
Het |
| Parvb |
A |
G |
15: 84,292,815 (GRCm38) |
H185R |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,522,759 (GRCm38) |
Y1710C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,414,421 (GRCm38) |
I1970T |
probably damaging |
Het |
| Plxna2 |
C |
A |
1: 194,643,964 (GRCm38) |
R69S |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,456,929 (GRCm38) |
N284S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 21,971,951 (GRCm38) |
S1906C |
possibly damaging |
Het |
| Rln1 |
T |
C |
19: 29,334,398 (GRCm38) |
R67G |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,754,239 (GRCm38) |
V224I |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,283,237 (GRCm38) |
|
probably null |
Het |
| Stx6 |
A |
G |
1: 155,193,313 (GRCm38) |
E195G |
possibly damaging |
Het |
| Sult2b1 |
G |
T |
7: 45,742,085 (GRCm38) |
D90E |
possibly damaging |
Het |
| Taok1 |
A |
G |
11: 77,540,240 (GRCm38) |
|
probably benign |
Het |
| Tcaf1 |
C |
T |
6: 42,686,650 (GRCm38) |
A99T |
probably benign |
Het |
| Tcf20 |
T |
A |
15: 82,853,459 (GRCm38) |
M1264L |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,874,074 (GRCm38) |
V1571M |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,431,529 (GRCm38) |
|
probably benign |
Het |
| Ubr1 |
C |
A |
2: 120,970,603 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
T |
C |
5: 110,787,621 (GRCm38) |
D926G |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,583,771 (GRCm38) |
I181V |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 85,006,812 (GRCm38) |
T332I |
probably damaging |
Het |
| Wdr1 |
C |
A |
5: 38,531,110 (GRCm38) |
D161Y |
probably damaging |
Het |
| Wnt7a |
T |
C |
6: 91,394,557 (GRCm38) |
Y141C |
probably damaging |
Het |
| Xrra1 |
G |
A |
7: 99,915,943 (GRCm38) |
E573K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,381,851 (GRCm38) |
Q91K |
possibly damaging |
Het |
|
| Other mutations in Tbx15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Tbx15
|
APN |
3 |
99,316,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01458:Tbx15
|
APN |
3 |
99,316,228 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01633:Tbx15
|
APN |
3 |
99,313,042 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02338:Tbx15
|
APN |
3 |
99,352,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03143:Tbx15
|
APN |
3 |
99,352,198 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL03201:Tbx15
|
APN |
3 |
99,351,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
shin_guard
|
UTSW |
3 |
99,352,192 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Shortcut
|
UTSW |
3 |
99,313,073 (GRCm38) |
nonsense |
probably null |
|
|
R0012:Tbx15
|
UTSW |
3 |
99,352,096 (GRCm38) |
missense |
probably benign |
|
|
R0109:Tbx15
|
UTSW |
3 |
99,351,866 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0277:Tbx15
|
UTSW |
3 |
99,352,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0462:Tbx15
|
UTSW |
3 |
99,316,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1134:Tbx15
|
UTSW |
3 |
99,316,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1347:Tbx15
|
UTSW |
3 |
99,352,111 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1347:Tbx15
|
UTSW |
3 |
99,352,111 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1506:Tbx15
|
UTSW |
3 |
99,351,912 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R1681:Tbx15
|
UTSW |
3 |
99,351,824 (GRCm38) |
splice site |
probably null |
|
|
R1762:Tbx15
|
UTSW |
3 |
99,351,944 (GRCm38) |
nonsense |
probably null |
|
|
R1789:Tbx15
|
UTSW |
3 |
99,352,246 (GRCm38) |
nonsense |
probably null |
|
|
R2167:Tbx15
|
UTSW |
3 |
99,326,455 (GRCm38) |
splice site |
probably benign |
|
|
R2254:Tbx15
|
UTSW |
3 |
99,351,874 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R2357:Tbx15
|
UTSW |
3 |
99,316,356 (GRCm38) |
splice site |
probably null |
|
|
R2441:Tbx15
|
UTSW |
3 |
99,352,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3010:Tbx15
|
UTSW |
3 |
99,253,893 (GRCm38) |
intron |
probably benign |
|
|
R3118:Tbx15
|
UTSW |
3 |
99,352,154 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4081:Tbx15
|
UTSW |
3 |
99,313,054 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4610:Tbx15
|
UTSW |
3 |
99,352,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4898:Tbx15
|
UTSW |
3 |
99,352,267 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4950:Tbx15
|
UTSW |
3 |
99,326,384 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4982:Tbx15
|
UTSW |
3 |
99,254,074 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4999:Tbx15
|
UTSW |
3 |
99,316,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5236:Tbx15
|
UTSW |
3 |
99,352,046 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5339:Tbx15
|
UTSW |
3 |
99,316,284 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5364:Tbx15
|
UTSW |
3 |
99,352,192 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5493:Tbx15
|
UTSW |
3 |
99,352,564 (GRCm38) |
missense |
probably benign |
|
|
R5690:Tbx15
|
UTSW |
3 |
99,308,850 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5756:Tbx15
|
UTSW |
3 |
99,313,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6032:Tbx15
|
UTSW |
3 |
99,352,517 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6032:Tbx15
|
UTSW |
3 |
99,352,517 (GRCm38) |
missense |
probably benign |
0.28 |
|
R6156:Tbx15
|
UTSW |
3 |
99,313,115 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6173:Tbx15
|
UTSW |
3 |
99,253,887 (GRCm38) |
nonsense |
probably null |
|
|
R6596:Tbx15
|
UTSW |
3 |
99,352,192 (GRCm38) |
missense |
probably benign |
|
|
R6680:Tbx15
|
UTSW |
3 |
99,313,073 (GRCm38) |
nonsense |
probably null |
|
|
R6931:Tbx15
|
UTSW |
3 |
99,352,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8129:Tbx15
|
UTSW |
3 |
99,253,938 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8155:Tbx15
|
UTSW |
3 |
99,352,570 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8230:Tbx15
|
UTSW |
3 |
99,351,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8729:Tbx15
|
UTSW |
3 |
99,313,060 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8929:Tbx15
|
UTSW |
3 |
99,314,903 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9038:Tbx15
|
UTSW |
3 |
99,314,769 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9688:Tbx15
|
UTSW |
3 |
99,326,392 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9746:Tbx15
|
UTSW |
3 |
99,352,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0023:Tbx15
|
UTSW |
3 |
99,314,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation