Incidental Mutation 'R9038:Tbx15'
| ID |
687523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbx15
|
| Ensembl Gene |
ENSMUSG00000027868 |
| Gene Name |
T-box 15 |
| Synonyms |
Tbx8, de, Tbx14 |
| MMRRC Submission |
068866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R9038 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
99147697-99261575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99222085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 183
(M183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029462]
[ENSMUST00000150756]
[ENSMUST00000151606]
|
| AlphaFold |
O70306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029462
AA Change: M183V
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029462
Gene: ENSMUSG00000027868
AA Change: M183V
| 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: ENSMUST00000150756
AA Change: M77V
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142358
Gene: ENSMUSG00000027868
AA Change: M77V
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
6 |
142 |
2.4e-72 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.4%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,895,651 (GRCm39) |
C382S |
probably benign |
Het |
| Abcf2 |
A |
G |
5: 24,776,191 (GRCm39) |
V296A |
possibly damaging |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,039,011 (GRCm39) |
D436G |
possibly damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,692 (GRCm39) |
I254V |
|
Het |
| Arhgef18 |
A |
G |
8: 3,503,257 (GRCm39) |
I888V |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,235,072 (GRCm39) |
A1083D |
probably damaging |
Het |
| Arnt2 |
C |
A |
7: 83,954,059 (GRCm39) |
A275S |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,731,900 (GRCm39) |
Y371N |
possibly damaging |
Het |
| Brip1 |
C |
T |
11: 86,080,599 (GRCm39) |
V156I |
probably benign |
Het |
| Camk4 |
C |
A |
18: 33,291,953 (GRCm39) |
C204* |
probably null |
Het |
| Cenpe |
A |
G |
3: 134,923,797 (GRCm39) |
T161A |
probably benign |
Het |
| Chd2 |
G |
A |
7: 73,105,358 (GRCm39) |
H1256Y |
probably damaging |
Het |
| Chd9 |
G |
A |
8: 91,716,233 (GRCm39) |
V936I |
unknown |
Het |
| D6Ertd527e |
A |
G |
6: 87,089,233 (GRCm39) |
*465W |
probably null |
Het |
| Dcaf11 |
T |
A |
14: 55,803,114 (GRCm39) |
D309E |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,743,553 (GRCm39) |
N373S |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,897 (GRCm39) |
D104G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,742 (GRCm39) |
T2302S |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,768,321 (GRCm39) |
K114E |
probably damaging |
Het |
| Gm12887 |
A |
G |
4: 121,473,616 (GRCm39) |
|
probably null |
Het |
| Gss |
A |
T |
2: 155,406,794 (GRCm39) |
I396N |
|
Het |
| H2-M5 |
T |
C |
17: 37,299,422 (GRCm39) |
I199M |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ift172 |
G |
T |
5: 31,441,399 (GRCm39) |
T245K |
possibly damaging |
Het |
| Ift70a2 |
G |
A |
2: 75,808,215 (GRCm39) |
T99I |
probably benign |
Het |
| Iqck |
A |
G |
7: 118,498,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,675,039 (GRCm39) |
N857S |
possibly damaging |
Het |
| Kdm1b |
C |
A |
13: 47,202,770 (GRCm39) |
S68R |
probably benign |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Myo6 |
G |
T |
9: 80,162,285 (GRCm39) |
V341L |
unknown |
Het |
| Nfkbie |
C |
A |
17: 45,870,183 (GRCm39) |
A176E |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,330,478 (GRCm39) |
M639I |
probably benign |
Het |
| Or10g3 |
T |
A |
14: 52,609,716 (GRCm39) |
S265C |
probably damaging |
Het |
| Or10j2 |
T |
A |
1: 173,098,147 (GRCm39) |
I135N |
possibly damaging |
Het |
| Or56a41 |
T |
C |
7: 104,740,433 (GRCm39) |
I138V |
probably benign |
Het |
| Or5w16 |
A |
G |
2: 87,577,125 (GRCm39) |
N195S |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,637,564 (GRCm39) |
T277A |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,354 (GRCm39) |
S243T |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,263 (GRCm39) |
T213M |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,153,810 (GRCm39) |
Q1003* |
probably null |
Het |
| Pde4c |
G |
C |
8: 71,179,550 (GRCm39) |
V34L |
probably benign |
Het |
| Pi4k2a |
G |
A |
19: 42,089,235 (GRCm39) |
V199M |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,848,007 (GRCm39) |
E285G |
probably damaging |
Het |
| Polr3e |
T |
C |
7: 120,536,906 (GRCm39) |
V356A |
possibly damaging |
Het |
| Prcp |
A |
G |
7: 92,567,017 (GRCm39) |
D243G |
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,115,246 (GRCm39) |
T161A |
probably damaging |
Het |
| Rhoj |
A |
G |
12: 75,355,700 (GRCm39) |
T35A |
|
Het |
| Scn9a |
T |
A |
2: 66,325,147 (GRCm39) |
M1336L |
probably damaging |
Het |
| Sel1l2 |
G |
T |
2: 140,117,384 (GRCm39) |
N162K |
probably damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,820,866 (GRCm39) |
L161P |
probably damaging |
Het |
| Slc4a11 |
G |
A |
2: 130,533,663 (GRCm39) |
A100V |
probably damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,320 (GRCm39) |
S41G |
probably benign |
Het |
| Tfip11 |
A |
G |
5: 112,481,214 (GRCm39) |
T397A |
possibly damaging |
Het |
| Themis |
T |
C |
10: 28,657,749 (GRCm39) |
S259P |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,117,172 (GRCm39) |
Y77C |
probably damaging |
Het |
| Tnnt2 |
C |
A |
1: 135,774,484 (GRCm39) |
P81H |
possibly damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,886 (GRCm39) |
T16A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,745,056 (GRCm39) |
Y5331F |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,526,922 (GRCm39) |
Q1057R |
possibly damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,918,649 (GRCm39) |
F81Y |
probably damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,490 (GRCm39) |
V268A |
|
Het |
| Vmn2r93 |
T |
A |
17: 18,524,471 (GRCm39) |
M155K |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,875,931 (GRCm39) |
C2772F |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,076,200 (GRCm39) |
N86D |
|
Het |
| Zbtb34 |
T |
C |
2: 33,301,248 (GRCm39) |
D431G |
probably damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,711,237 (GRCm39) |
P408L |
probably benign |
Het |
| Zfp345 |
A |
G |
2: 150,313,864 (GRCm39) |
Y558H |
probably benign |
Het |
| Zfp583 |
G |
A |
7: 6,319,543 (GRCm39) |
P490S |
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 |
|
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 |
|
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'- CACCACAGCAGTTCTCTGTC -3'
(R):5'- TTGAGTGGGGTCCTTTAACTCAC -3'
Sequencing Primer
(F):5'- ACCACAGCAGTTCTCTGTCATTTC -3'
(R):5'- AGTGGGGTCCTTTAACTCACATGTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation