Incidental Mutation 'IGL03143:Tbx15'
| ID |
410751 |
| 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 # |
IGL03143
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99259514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 462
(M462L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029462
AA Change: M462L
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M462L
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
T |
G |
9: 121,738,333 (GRCm39) |
L236R |
probably damaging |
Het |
| Agbl1 |
C |
T |
7: 76,069,793 (GRCm39) |
Q442* |
probably null |
Het |
| Ahrr |
G |
A |
13: 74,405,614 (GRCm39) |
Q108* |
probably null |
Het |
| Ankrd23 |
T |
C |
1: 36,570,726 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,104 (GRCm39) |
I225T |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,656,031 (GRCm39) |
V1347A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,905,994 (GRCm39) |
M1326V |
possibly damaging |
Het |
| Bpifb6 |
A |
C |
2: 153,744,655 (GRCm39) |
N32T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,952,653 (GRCm39) |
T1043S |
possibly damaging |
Het |
| Cbx5 |
A |
T |
15: 103,121,532 (GRCm39) |
V35E |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,182,832 (GRCm39) |
M396L |
probably benign |
Het |
| Ceacam3 |
G |
T |
7: 16,892,045 (GRCm39) |
E263* |
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,159,200 (GRCm39) |
T157A |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,399,828 (GRCm39) |
|
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,103 (GRCm39) |
I48T |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,556,543 (GRCm39) |
E349K |
probably benign |
Het |
| Fkbp10 |
A |
T |
11: 100,313,580 (GRCm39) |
I285F |
probably benign |
Het |
| Frrs1 |
A |
T |
3: 116,692,836 (GRCm39) |
T37S |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,181,677 (GRCm39) |
Y377C |
probably damaging |
Het |
| Gm9789 |
T |
A |
16: 88,954,883 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
A |
1: 180,160,933 (GRCm39) |
V353D |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,352,509 (GRCm39) |
E467G |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,573,845 (GRCm39) |
I906N |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,208,020 (GRCm39) |
L89Q |
probably benign |
Het |
| Lef1 |
G |
T |
3: 130,993,965 (GRCm39) |
E314* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,745,518 (GRCm39) |
|
probably benign |
Het |
| Mrtfb |
A |
G |
16: 13,218,676 (GRCm39) |
N452D |
possibly damaging |
Het |
| Naaladl1 |
C |
T |
19: 6,164,896 (GRCm39) |
T628I |
possibly damaging |
Het |
| Nell1 |
C |
T |
7: 49,929,281 (GRCm39) |
Q259* |
probably null |
Het |
| Neu2 |
G |
T |
1: 87,524,698 (GRCm39) |
E228* |
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,835 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or5k15 |
A |
G |
16: 58,709,824 (GRCm39) |
F253S |
probably damaging |
Het |
| Or8g21 |
T |
G |
9: 38,906,732 (GRCm39) |
|
probably benign |
Het |
| Or8k20 |
T |
C |
2: 86,106,580 (GRCm39) |
N84D |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Palm |
T |
C |
10: 79,652,617 (GRCm39) |
|
probably benign |
Het |
| Parp8 |
C |
A |
13: 117,047,497 (GRCm39) |
|
probably benign |
Het |
| Pax7 |
A |
G |
4: 139,556,798 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
A |
19: 5,735,423 (GRCm39) |
R468W |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,702,722 (GRCm39) |
V818D |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,241,147 (GRCm39) |
V694I |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,760,877 (GRCm39) |
|
probably benign |
Het |
| Polb |
T |
C |
8: 23,130,367 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,183 (GRCm39) |
W103* |
probably null |
Het |
| Slc17a3 |
T |
G |
13: 24,039,962 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,071,962 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,646,839 (GRCm39) |
H207L |
possibly damaging |
Het |
| Tcirg1 |
G |
A |
19: 3,948,811 (GRCm39) |
T458I |
probably damaging |
Het |
| Tnfrsf25 |
A |
G |
4: 152,201,384 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,155 (GRCm39) |
K1060E |
probably damaging |
Het |
| Ttc16 |
T |
C |
2: 32,664,457 (GRCm39) |
D3G |
possibly damaging |
Het |
| Vmn1r199 |
A |
C |
13: 22,567,299 (GRCm39) |
N155H |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation