Incidental Mutation 'R6032:Tbx15'
| ID |
480439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
044204-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R6032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99259833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 568
(M568T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029462
AA Change: M568T
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M568T
| 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 |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.0%
- 20x: 85.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,526,799 (GRCm39) |
K1071* |
probably null |
Het |
| Abca13 |
G |
T |
11: 9,247,752 (GRCm39) |
V2500F |
possibly damaging |
Het |
| Adamdec1 |
T |
C |
14: 68,816,633 (GRCm39) |
E85G |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,264,970 (GRCm39) |
V199A |
probably benign |
Het |
| Aoc2 |
G |
A |
11: 101,216,627 (GRCm39) |
V237M |
probably damaging |
Het |
| Aplp2 |
C |
T |
9: 31,062,240 (GRCm39) |
R672H |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,045,513 (GRCm39) |
N886S |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,927,303 (GRCm39) |
Y328C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,267,521 (GRCm39) |
Y103C |
probably damaging |
Het |
| Crem |
C |
T |
18: 3,267,673 (GRCm39) |
R190Q |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,832,756 (GRCm39) |
S2000P |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,329,995 (GRCm39) |
T2629S |
probably benign |
Het |
| Cyp3a44 |
G |
T |
5: 145,714,756 (GRCm39) |
S465Y |
probably damaging |
Het |
| Daam2 |
A |
C |
17: 49,793,525 (GRCm39) |
F331V |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,205,443 (GRCm39) |
S146P |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fam184b |
G |
A |
5: 45,740,238 (GRCm39) |
S316L |
probably benign |
Het |
| Fat2 |
G |
C |
11: 55,144,760 (GRCm39) |
T4038S |
probably damaging |
Het |
| Fbxl19 |
C |
T |
7: 127,360,437 (GRCm39) |
R439C |
probably damaging |
Het |
| Gm3454 |
T |
A |
15: 75,183,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch3 |
A |
G |
4: 133,305,617 (GRCm39) |
E284G |
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,549 (GRCm39) |
I693N |
probably damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,934 (GRCm39) |
Q127L |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,937 (GRCm39) |
K458E |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,080 (GRCm39) |
F148L |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,057,638 (GRCm39) |
T571A |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,469,254 (GRCm39) |
V108M |
probably damaging |
Het |
| Mef2c |
A |
T |
13: 83,810,478 (GRCm39) |
T375S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,264,147 (GRCm39) |
D144E |
possibly damaging |
Het |
| Nos3 |
A |
T |
5: 24,584,809 (GRCm39) |
T738S |
probably benign |
Het |
| Nrxn2 |
A |
T |
19: 6,567,162 (GRCm39) |
T1353S |
probably damaging |
Het |
| Or2b7 |
G |
T |
13: 21,740,077 (GRCm39) |
S38R |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,195 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8g17 |
A |
G |
9: 38,930,261 (GRCm39) |
I192T |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,406,747 (GRCm39) |
T333A |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,284,137 (GRCm39) |
I565F |
possibly damaging |
Het |
| Ppef2 |
A |
G |
5: 92,378,383 (GRCm39) |
V604A |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,119,598 (GRCm39) |
I323S |
possibly damaging |
Het |
| Rel |
A |
G |
11: 23,692,684 (GRCm39) |
S450P |
probably benign |
Het |
| Rpap2 |
A |
C |
5: 107,745,661 (GRCm39) |
D3A |
probably damaging |
Het |
| Shisa9 |
T |
C |
16: 11,802,772 (GRCm39) |
F110L |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,784 (GRCm39) |
|
probably null |
Het |
| Slx4 |
A |
T |
16: 3,798,021 (GRCm39) |
F1454L |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,950,430 (GRCm39) |
V1198D |
possibly damaging |
Het |
| Supt5 |
T |
C |
7: 28,015,600 (GRCm39) |
Y879C |
probably damaging |
Het |
| Tle4 |
T |
C |
19: 14,429,472 (GRCm39) |
H698R |
possibly damaging |
Het |
| Trappc9 |
T |
C |
15: 72,797,379 (GRCm39) |
N803D |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,182,606 (GRCm39) |
R157S |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,131,025 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,874 (GRCm39) |
S178G |
probably benign |
Het |
| Zftraf1 |
C |
T |
15: 76,543,058 (GRCm39) |
R34Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation