Incidental Mutation 'R2357:Tbx15'
| ID |
247423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
040339-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R2357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3291 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 99223672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
[ENSMUST00000150756]
[ENSMUST00000151606]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029462
AA Change: Q287*
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: Q287*
| 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 null
Transcript: ENSMUST00000150756
|
| SMART Domains |
Protein: ENSMUSP00000142358
Gene: ENSMUSG00000027868
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
6 |
142 |
2.4e-72 |
SMART |
|
| Predicted Effect |
probably null
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 |
0.9754 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,569,844 (GRCm39) |
T520K |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,247,336 (GRCm39) |
L2361P |
probably damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,106 (GRCm39) |
M248K |
probably damaging |
Het |
| Adam11 |
G |
T |
11: 102,665,334 (GRCm39) |
V467L |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,141,618 (GRCm39) |
H501Y |
probably damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,486,251 (GRCm39) |
Y22* |
probably null |
Het |
| Ccdc124 |
A |
T |
8: 71,321,179 (GRCm39) |
L187Q |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,894,792 (GRCm39) |
S324N |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,950 (GRCm39) |
K134* |
probably null |
Het |
| Cnpy3 |
G |
T |
17: 47,062,909 (GRCm39) |
S47R |
probably damaging |
Het |
| Cpne8 |
A |
T |
15: 90,503,877 (GRCm39) |
L96Q |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,533,396 (GRCm39) |
Y212N |
probably damaging |
Het |
| Cryba1 |
A |
T |
11: 77,613,427 (GRCm39) |
|
probably benign |
Het |
| Cyc1 |
A |
G |
15: 76,229,766 (GRCm39) |
M288V |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,990,846 (GRCm39) |
D3296E |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,093,909 (GRCm39) |
T4668A |
probably benign |
Het |
| Dnajb6 |
T |
A |
5: 29,958,638 (GRCm39) |
F113I |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,081,053 (GRCm39) |
I2881T |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,354 (GRCm39) |
S179P |
probably benign |
Het |
| Esco2 |
C |
A |
14: 66,064,000 (GRCm39) |
A395S |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,113 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,321 (GRCm39) |
T218A |
possibly damaging |
Het |
| Gde1 |
A |
T |
7: 118,290,814 (GRCm39) |
F170L |
probably benign |
Het |
| Ggt5 |
A |
C |
10: 75,445,075 (GRCm39) |
I361L |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,350,514 (GRCm39) |
T683M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,732,370 (GRCm39) |
Q539R |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,780 (GRCm39) |
V645A |
probably damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,978,891 (GRCm39) |
V408D |
probably damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,797,299 (GRCm39) |
H583L |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,019,043 (GRCm39) |
A1938V |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,841,679 (GRCm39) |
Y56H |
probably damaging |
Het |
| Il17re |
A |
G |
6: 113,445,431 (GRCm39) |
I381V |
possibly damaging |
Het |
| Klrd1 |
T |
A |
6: 129,573,872 (GRCm39) |
*71K |
probably null |
Het |
| Kng1 |
A |
T |
16: 22,897,815 (GRCm39) |
Y405F |
possibly damaging |
Het |
| Kptn |
G |
T |
7: 15,859,709 (GRCm39) |
C311F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,821,890 (GRCm39) |
I2982V |
probably benign |
Het |
| Mamstr |
G |
T |
7: 45,291,754 (GRCm39) |
D35Y |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,337 (GRCm39) |
D239G |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,408,987 (GRCm39) |
|
probably benign |
Het |
| Mrpl39 |
A |
T |
16: 84,524,452 (GRCm39) |
H204Q |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,108,647 (GRCm39) |
M1476K |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,172,967 (GRCm39) |
S45P |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,980 (GRCm39) |
|
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,743 (GRCm39) |
I101T |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,028 (GRCm39) |
W152R |
probably damaging |
Het |
| Or6c207 |
C |
A |
10: 129,104,642 (GRCm39) |
K183N |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,634 (GRCm39) |
S216P |
probably benign |
Het |
| Plau |
T |
A |
14: 20,888,683 (GRCm39) |
V100D |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,999,654 (GRCm39) |
V6A |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,074,535 (GRCm39) |
S356P |
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,362,293 (GRCm39) |
D44G |
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,101 (GRCm39) |
V59A |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,813,043 (GRCm39) |
N932I |
probably damaging |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,743 (GRCm39) |
V70A |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,733 (GRCm39) |
S56R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,985,631 (GRCm39) |
Y8H |
probably benign |
Het |
| Strn |
G |
A |
17: 78,963,028 (GRCm39) |
T745I |
probably damaging |
Het |
| Tbx20 |
T |
A |
9: 24,681,072 (GRCm39) |
D140V |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,666,923 (GRCm39) |
Y42* |
probably null |
Het |
| Usp9y |
G |
A |
Y: 1,394,050 (GRCm39) |
T560I |
possibly damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,151 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
GG |
GGGGGG |
4: 144,801,547 (GRCm39) |
|
probably null |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp78 |
G |
A |
7: 6,382,056 (GRCm39) |
G369R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCCCAGCCTAAACTTTC -3'
(R):5'- GTGCTATAAGACTGGTCTCTCC -3'
Sequencing Primer
(F):5'- GCCCAGCCTAAACTTTCCTCTTTG -3'
(R):5'- ATCATGGACCCTGAATGGATCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation