Incidental Mutation 'R6173:Tbx15'
| ID |
526475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
044316-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R6173 (G1)
|
| Quality Score |
67.0074 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 99161203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 3
(E3*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
[ENSMUST00000151606]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029462
AA Change: E3*
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: E3*
| 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: ENSMUST00000151606
|
| SMART Domains |
Protein: ENSMUSP00000143417
Gene: ENSMUSG00000027868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:T-box
|
8 |
51 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196228
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (52/54) |
| 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 |
|---|
| Ank2 |
T |
C |
3: 126,846,395 (GRCm39) |
D219G |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,965 (GRCm39) |
I18N |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,271,361 (GRCm39) |
S1315P |
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,646,523 (GRCm39) |
C432* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,385,864 (GRCm39) |
T86A |
probably benign |
Het |
| Cadm2 |
C |
T |
16: 66,679,729 (GRCm39) |
V35I |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,896 (GRCm39) |
S211P |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,036,338 (GRCm39) |
|
probably null |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Dazl |
A |
T |
17: 50,594,599 (GRCm39) |
M152K |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,772 (GRCm39) |
S3748P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,212,388 (GRCm39) |
K1251R |
probably null |
Het |
| Esr1 |
T |
C |
10: 4,696,760 (GRCm39) |
V203A |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,588 (GRCm39) |
I262T |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Fshb |
T |
C |
2: 106,887,638 (GRCm39) |
E127G |
possibly damaging |
Het |
| Galk2 |
A |
G |
2: 125,701,137 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
A |
G |
11: 60,323,241 (GRCm39) |
D111G |
probably damaging |
Het |
| Gm14412 |
G |
A |
2: 177,006,330 (GRCm39) |
P522S |
probably damaging |
Het |
| Iqank1 |
A |
G |
15: 75,917,237 (GRCm39) |
E290G |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,376,245 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,845,039 (GRCm39) |
V224A |
probably benign |
Het |
| Mocos |
A |
T |
18: 24,809,639 (GRCm39) |
Y414F |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,077,755 (GRCm39) |
I27V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,554,958 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,840,752 (GRCm39) |
I534N |
probably damaging |
Het |
| Mup20 |
A |
T |
4: 61,972,267 (GRCm39) |
L7Q |
unknown |
Het |
| Nlrp2 |
T |
C |
7: 5,340,808 (GRCm39) |
E2G |
probably damaging |
Het |
| Or11g1 |
A |
G |
14: 50,651,654 (GRCm39) |
I218V |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,959,091 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,299 (GRCm39) |
V207A |
probably benign |
Het |
| Or6z5 |
C |
T |
7: 6,477,835 (GRCm39) |
A242V |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,469,675 (GRCm39) |
T209A |
possibly damaging |
Het |
| Psip1 |
T |
A |
4: 83,391,286 (GRCm39) |
|
probably null |
Het |
| Ptprc |
A |
C |
1: 137,995,628 (GRCm39) |
C1157G |
probably damaging |
Het |
| Rad17 |
A |
C |
13: 100,759,389 (GRCm39) |
V546G |
probably benign |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,904,798 (GRCm39) |
E124G |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,907 (GRCm39) |
T1242A |
unknown |
Het |
| Slc13a5 |
C |
T |
11: 72,144,023 (GRCm39) |
E352K |
probably benign |
Het |
| Sohlh2 |
G |
T |
3: 55,104,419 (GRCm39) |
V263F |
probably benign |
Het |
| Strn |
A |
G |
17: 79,008,298 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tespa1 |
A |
G |
10: 130,183,172 (GRCm39) |
D39G |
probably benign |
Het |
| Trp73 |
A |
T |
4: 154,188,798 (GRCm39) |
D54E |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,151 (GRCm39) |
S912C |
probably damaging |
Het |
| Utp14b |
A |
T |
1: 78,643,554 (GRCm39) |
D484V |
probably benign |
Het |
| Utp14b |
A |
C |
1: 78,643,557 (GRCm39) |
N485T |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,234,369 (GRCm39) |
E839G |
probably benign |
Het |
| Vmn2r6 |
G |
C |
3: 64,467,176 (GRCm39) |
P108A |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,314,682 (GRCm39) |
|
probably null |
Het |
| Zfp36l1 |
A |
T |
12: 80,156,320 (GRCm39) |
|
probably null |
Het |
| Zfp998 |
T |
A |
13: 66,579,608 (GRCm39) |
T292S |
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,519,305 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGTCAGCAGAGTTTGTGAGC -3'
(R):5'- GGCTCAAGGTATTTATGCCAAG -3'
Sequencing Primer
(F):5'- AGCTGGACTCAGTGCTCCATG -3'
(R):5'- GTATTTATGCCAAGAAAAAGGAACCC -3'
|
| Posted On |
2018-07-16 |
Incidental Mutation