Incidental Mutation 'R8230:Tbx15'
| ID |
637094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
067662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.931)
|
| Stock # |
R8230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99259305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 392
(C392F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029462
AA Change: C392F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: C392F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,246,904 (GRCm39) |
Y485H |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,768 (GRCm39) |
H98Q |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,252,917 (GRCm39) |
T267I |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,391,835 (GRCm39) |
H1945R |
possibly damaging |
Het |
| Baiap3 |
A |
G |
17: 25,465,827 (GRCm39) |
I585T |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Ccdc127 |
T |
C |
13: 74,508,751 (GRCm39) |
F50S |
unknown |
Het |
| Ccdc15 |
T |
C |
9: 37,226,555 (GRCm39) |
E473G |
probably benign |
Het |
| Clasp2 |
A |
G |
9: 113,721,482 (GRCm39) |
D763G |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,451,824 (GRCm39) |
F147I |
probably damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,914 (GRCm39) |
G954D |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,935 (GRCm39) |
M1T |
probably null |
Het |
| F2r |
T |
A |
13: 95,741,247 (GRCm39) |
D96V |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,149,424 (GRCm39) |
D730G |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,037,565 (GRCm39) |
I892V |
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,198,735 (GRCm39) |
N60S |
probably benign |
Het |
| Gm12790 |
T |
C |
4: 101,825,280 (GRCm39) |
I45V |
probably benign |
Het |
| Herc1 |
G |
A |
9: 66,377,598 (GRCm39) |
V3455I |
probably damaging |
Het |
| Hic1 |
T |
C |
11: 75,056,411 (GRCm39) |
D826G |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,234,485 (GRCm39) |
Y300C |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,068 (GRCm39) |
Q68R |
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,030,020 (GRCm39) |
Y309C |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,326,711 (GRCm39) |
|
probably null |
Het |
| Kat7 |
T |
C |
11: 95,168,415 (GRCm39) |
K414E |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,982 (GRCm39) |
L260Q |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,843,930 (GRCm39) |
I215T |
noncoding transcript |
Het |
| Ntpcr |
G |
T |
8: 126,464,159 (GRCm39) |
|
probably null |
Het |
| Ntrk3 |
C |
A |
7: 77,900,518 (GRCm39) |
C607F |
probably damaging |
Het |
| Or10ag54 |
A |
T |
2: 87,099,545 (GRCm39) |
H119L |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,631 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5w13 |
T |
A |
2: 87,523,705 (GRCm39) |
I174F |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,191,707 (GRCm39) |
V601A |
probably damaging |
Het |
| Plagl2 |
A |
G |
2: 153,074,239 (GRCm39) |
C221R |
probably damaging |
Het |
| Shf |
A |
G |
2: 122,179,968 (GRCm39) |
Y195H |
probably damaging |
Het |
| Tapbpl |
T |
A |
6: 125,203,684 (GRCm39) |
Y332F |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,194,094 (GRCm39) |
L222P |
probably benign |
Het |
| Vsig8 |
A |
T |
1: 172,389,078 (GRCm39) |
D222V |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,009 (GRCm39) |
E2750G |
probably damaging |
Het |
| Zfp870 |
A |
G |
17: 33,102,663 (GRCm39) |
V222A |
possibly 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 |
|
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 |
|
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'- CATTTGCCTTAGACAGACTCATC -3'
(R):5'- AGGCTTCCATCTTGCTGTTG -3'
Sequencing Primer
(F):5'- TGCCTTAGACAGACTCATCTTAATC -3'
(R):5'- TTGCTGGGCAACGAGGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation