Incidental Mutation 'R5493:Tbx15'
| ID |
432161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
043054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R5493 (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 99259880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 584
(G584S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029462
AA Change: G584S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: G584S
| 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 |
0.0686 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
99% (80/81) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
A |
G |
16: 21,471,993 (GRCm39) |
S236P |
possibly damaging |
Het |
| A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,069 (GRCm39) |
V155A |
possibly damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Aloxe3 |
A |
T |
11: 69,019,443 (GRCm39) |
R119* |
probably null |
Het |
| Asap1 |
A |
G |
15: 64,002,000 (GRCm39) |
V460A |
possibly damaging |
Het |
| Bicral |
C |
A |
17: 47,112,620 (GRCm39) |
R860L |
possibly damaging |
Het |
| Cd180 |
T |
A |
13: 102,842,649 (GRCm39) |
I565N |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,978,147 (GRCm39) |
|
probably benign |
Het |
| Cdkn2d |
T |
C |
9: 21,200,303 (GRCm39) |
D156G |
probably benign |
Het |
| Clrn1 |
A |
G |
3: 58,753,837 (GRCm39) |
S175P |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,450,351 (GRCm39) |
L535S |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,110 (GRCm39) |
|
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,728,550 (GRCm39) |
L7P |
unknown |
Het |
| D130043K22Rik |
A |
G |
13: 25,047,586 (GRCm39) |
Y377C |
probably damaging |
Het |
| Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,111,977 (GRCm39) |
Q1341R |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,943,919 (GRCm39) |
D447G |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,481,984 (GRCm39) |
Y234C |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,107,076 (GRCm39) |
N315S |
possibly damaging |
Het |
| Gm20730 |
A |
T |
6: 43,058,746 (GRCm39) |
V22E |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,457,890 (GRCm39) |
I488F |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,124,488 (GRCm39) |
M290K |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,716 (GRCm39) |
N699S |
probably damaging |
Het |
| Hk3 |
A |
G |
13: 55,158,984 (GRCm39) |
V479A |
probably damaging |
Het |
| Ifnlr1 |
G |
A |
4: 135,432,877 (GRCm39) |
V438M |
probably benign |
Het |
| Il12rb1 |
C |
A |
8: 71,262,483 (GRCm39) |
P26T |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,477 (GRCm39) |
R414L |
possibly damaging |
Het |
| Ipo4 |
T |
C |
14: 55,868,327 (GRCm39) |
N490S |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,291 (GRCm39) |
E164G |
probably damaging |
Het |
| Kcns1 |
G |
A |
2: 164,009,899 (GRCm39) |
L287F |
probably benign |
Het |
| Kdm1a |
ACC |
AC |
4: 136,284,732 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,211 (GRCm39) |
I304K |
probably damaging |
Het |
| Ksr2 |
G |
T |
5: 117,846,175 (GRCm39) |
V681F |
probably damaging |
Het |
| Lypd2 |
T |
C |
15: 74,606,127 (GRCm39) |
T4A |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,950,576 (GRCm39) |
V182A |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,720 (GRCm39) |
D202V |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,696,225 (GRCm39) |
F316S |
possibly damaging |
Het |
| Or2w2 |
A |
T |
13: 21,758,042 (GRCm39) |
C195S |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,315 (GRCm39) |
R195W |
probably benign |
Het |
| Or56b1b |
T |
C |
7: 108,164,774 (GRCm39) |
D76G |
probably benign |
Het |
| Pcdha2 |
C |
A |
18: 37,072,562 (GRCm39) |
F64L |
probably damaging |
Het |
| Pgap3 |
G |
C |
11: 98,281,540 (GRCm39) |
F168L |
possibly damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,416,439 (GRCm39) |
N16S |
probably benign |
Het |
| Ppip5k1 |
T |
A |
2: 121,167,253 (GRCm39) |
H41L |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,159,702 (GRCm39) |
R1080G |
probably damaging |
Het |
| Qrich2 |
A |
C |
11: 116,336,774 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
T |
8: 91,842,447 (GRCm39) |
P1034L |
probably damaging |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,629 (GRCm39) |
S442G |
probably damaging |
Het |
| Rtca |
C |
T |
3: 116,293,280 (GRCm39) |
R71Q |
probably benign |
Het |
| Serpind1 |
A |
T |
16: 17,157,902 (GRCm39) |
N366I |
probably damaging |
Het |
| Shox2 |
C |
G |
3: 66,888,796 (GRCm39) |
G32R |
probably damaging |
Het |
| Sp3 |
T |
A |
2: 72,768,466 (GRCm39) |
N766Y |
probably damaging |
Het |
| Spag7 |
T |
A |
11: 70,560,059 (GRCm39) |
S17C |
probably null |
Het |
| Stk25 |
A |
T |
1: 93,563,031 (GRCm39) |
F7I |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,755,503 (GRCm39) |
D165G |
probably benign |
Het |
| Tox2 |
C |
A |
2: 163,046,649 (GRCm39) |
S42* |
probably null |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,754 (GRCm39) |
V188A |
probably damaging |
Het |
| Zbtb5 |
A |
T |
4: 44,993,941 (GRCm39) |
M481K |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,355,615 (GRCm39) |
T56A |
possibly damaging |
Het |
| Zfp459 |
C |
A |
13: 67,556,498 (GRCm39) |
C195F |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,004,105 (GRCm39) |
I342T |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,151,985 (GRCm39) |
N7D |
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 |
|
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'- GCAGCAGAGCTCCTATAATGCC -3'
(R):5'- ACTCCAAGGATCCTTCAGCG -3'
Sequencing Primer
(F):5'- AGCAGAGCTCCTATAATGCCTTCTC -3'
(R):5'- CAAGGATCCTTCAGCGGTATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation