Incidental Mutation 'R5339:Tbx15'
| ID |
423679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
042918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R5339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99223600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 263
(V263M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
[ENSMUST00000150756]
[ENSMUST00000151606]
|
| AlphaFold |
O70306 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029462
AA Change: V263M
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: V263M
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142358
Gene: ENSMUSG00000027868
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
6 |
142 |
2.4e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151606
|
| SMART Domains |
Protein: ENSMUSP00000143417
Gene: ENSMUSG00000027868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T-box
|
8 |
51 |
1.1e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (57/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,350 (GRCm39) |
G158E |
probably damaging |
Het |
| Adgrl2 |
C |
T |
3: 148,523,480 (GRCm39) |
R1256H |
probably benign |
Het |
| C3 |
C |
A |
17: 57,531,308 (GRCm39) |
V329F |
probably damaging |
Het |
| Ccdc50 |
C |
T |
16: 27,236,055 (GRCm39) |
H130Y |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,749,055 (GRCm39) |
S476P |
probably damaging |
Het |
| Crtc1 |
A |
T |
8: 70,850,383 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,536,494 (GRCm39) |
T2137A |
possibly damaging |
Het |
| Ehd3 |
G |
A |
17: 74,135,202 (GRCm39) |
M359I |
possibly damaging |
Het |
| Fastkd3 |
G |
A |
13: 68,738,283 (GRCm39) |
G611R |
probably damaging |
Het |
| Foxa2 |
T |
A |
2: 147,886,354 (GRCm39) |
S154C |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,311,548 (GRCm39) |
I733T |
probably benign |
Het |
| Gm1968 |
T |
C |
16: 29,781,077 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg-ps |
T |
C |
6: 4,893,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
A |
T |
14: 56,368,140 (GRCm39) |
N106K |
possibly damaging |
Het |
| Huwe1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
X: 150,690,044 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,181,122 (GRCm39) |
W883R |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,922 (GRCm39) |
V1063D |
probably damaging |
Het |
| Kansl3 |
A |
C |
1: 36,406,802 (GRCm39) |
|
probably benign |
Het |
| Klkb1 |
C |
A |
8: 45,723,748 (GRCm39) |
V556F |
possibly damaging |
Het |
| Krtap14 |
C |
A |
16: 88,622,747 (GRCm39) |
R77S |
probably benign |
Het |
| Leng8 |
T |
A |
7: 4,148,285 (GRCm39) |
Y686N |
possibly damaging |
Het |
| Mctp1 |
C |
A |
13: 76,973,825 (GRCm39) |
|
probably benign |
Het |
| Moxd2 |
T |
C |
6: 40,862,354 (GRCm39) |
Y155C |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,241,321 (GRCm39) |
V729A |
probably benign |
Het |
| Or2w6 |
G |
A |
13: 21,843,404 (GRCm39) |
L30F |
probably benign |
Het |
| Or4k1 |
C |
A |
14: 50,377,759 (GRCm39) |
M112I |
probably damaging |
Het |
| Or7g27 |
G |
A |
9: 19,250,455 (GRCm39) |
G233E |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,599 (GRCm39) |
F104I |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,229 (GRCm39) |
M98K |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Pex5 |
A |
T |
6: 124,374,963 (GRCm39) |
S629T |
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,892,949 (GRCm39) |
S146P |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,098,236 (GRCm39) |
E1247K |
probably damaging |
Het |
| Reg3a |
A |
G |
6: 78,360,522 (GRCm39) |
|
probably null |
Het |
| Snx8 |
G |
A |
5: 140,343,905 (GRCm39) |
R78C |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,710,173 (GRCm39) |
E352G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,121,892 (GRCm39) |
Y767C |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,993,556 (GRCm39) |
Y695H |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,082,031 (GRCm39) |
L1174Q |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,549,942 (GRCm39) |
Y235N |
probably damaging |
Het |
| Tha1 |
C |
A |
11: 117,761,908 (GRCm39) |
R111L |
possibly damaging |
Het |
| Trim17 |
C |
T |
11: 58,845,336 (GRCm39) |
|
probably null |
Het |
| Trim72 |
A |
G |
7: 127,609,505 (GRCm39) |
T436A |
probably benign |
Het |
| Uba7 |
C |
T |
9: 107,856,065 (GRCm39) |
A480V |
probably damaging |
Het |
| Ublcp1 |
A |
T |
11: 44,346,435 (GRCm39) |
S313T |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,972 (GRCm39) |
V175A |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,294,746 (GRCm39) |
L276P |
probably damaging |
Het |
| Zdhhc21 |
C |
T |
4: 82,756,550 (GRCm39) |
G110S |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,642,491 (GRCm39) |
E1133G |
probably damaging |
Het |
| Zfp800 |
A |
T |
6: 28,256,472 (GRCm39) |
S39T |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATGCACCCATTTCTAGGCC -3'
(R):5'- TGTGTGTCACTGAGAAGTAAGC -3'
Sequencing Primer
(F):5'- TAATCCATCCAAGTCCTCTAATGC -3'
(R):5'- CTGAGAAGTAAGCATTTCTCGCCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation