Incidental Mutation 'R1972:Itga10'
ID |
221045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
MMRRC Submission |
039985-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
R1972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 96559054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121011
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
AlphaFold |
E9Q6R1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029744
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
VWA
|
165 |
355 |
9.6e-43 |
SMART |
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
transmembrane domain
|
1123 |
1145 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119365
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
VWA
|
165 |
355 |
9.6e-43 |
SMART |
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
transmembrane domain
|
1122 |
1144 |
N/A |
INTRINSIC |
low complexity region
|
1152 |
1165 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137564
|
SMART Domains |
Protein: ENSMUSP00000121011 Gene: ENSMUSG00000106447
Domain | Start | End | E-Value | Type |
Pfam:PEX11
|
1 |
172 |
4.5e-57 |
PFAM |
low complexity region
|
186 |
204 |
N/A |
INTRINSIC |
Int_alpha
|
222 |
278 |
9.03e-3 |
SMART |
Blast:VWA
|
292 |
345 |
3e-7 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (77/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] PHENOTYPE: Homozygous null mice display slightly shortened long bones and amild abnormalities in ephysiseal plate morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat1 |
A |
G |
8: 112,717,050 (GRCm39) |
|
probably benign |
Het |
Bbs2 |
A |
G |
8: 94,807,805 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
C |
3: 97,114,518 (GRCm39) |
D1035E |
probably damaging |
Het |
Bmpr2 |
A |
G |
1: 59,852,762 (GRCm39) |
E31G |
possibly damaging |
Het |
Borcs5 |
A |
G |
6: 134,687,137 (GRCm39) |
D164G |
probably damaging |
Het |
Cap2 |
A |
G |
13: 46,791,375 (GRCm39) |
R181G |
probably damaging |
Het |
Ccdc113 |
A |
T |
8: 96,264,874 (GRCm39) |
H128L |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
Chrm4 |
C |
T |
2: 91,757,838 (GRCm39) |
A82V |
probably benign |
Het |
Cyp2d22 |
A |
T |
15: 82,260,028 (GRCm39) |
M52K |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
Dgka |
C |
T |
10: 128,556,335 (GRCm39) |
G717D |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
Eif2ak1 |
A |
G |
5: 143,821,532 (GRCm39) |
T283A |
probably benign |
Het |
Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
Fcgbp |
A |
T |
7: 27,793,617 (GRCm39) |
Y1173F |
probably benign |
Het |
Flt1 |
G |
A |
5: 147,591,903 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
Gsdma2 |
T |
C |
11: 98,541,744 (GRCm39) |
V157A |
probably benign |
Het |
Heatr4 |
T |
A |
12: 84,001,794 (GRCm39) |
I884F |
probably damaging |
Het |
Ift56 |
C |
A |
6: 38,387,738 (GRCm39) |
N396K |
probably benign |
Het |
Il17ra |
A |
G |
6: 120,459,177 (GRCm39) |
E776G |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,604,036 (GRCm39) |
S235P |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
Isoc2a |
T |
A |
7: 4,895,086 (GRCm39) |
D171E |
probably damaging |
Het |
Kcnk12 |
T |
C |
17: 88,104,560 (GRCm39) |
D108G |
possibly damaging |
Het |
Klra9 |
A |
T |
6: 130,159,345 (GRCm39) |
|
probably null |
Het |
Lgmn |
A |
G |
12: 102,362,080 (GRCm39) |
|
probably benign |
Het |
Morf4l1 |
A |
T |
9: 89,977,267 (GRCm39) |
|
probably benign |
Het |
Mthfr |
T |
C |
4: 148,136,384 (GRCm39) |
I380T |
probably damaging |
Het |
Mybpc1 |
T |
C |
10: 88,387,404 (GRCm39) |
I436V |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,349,278 (GRCm39) |
V1350A |
probably damaging |
Het |
Neil2 |
A |
T |
14: 63,423,526 (GRCm39) |
C36S |
possibly damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,753 (GRCm39) |
V897A |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,111,602 (GRCm39) |
T112A |
probably benign |
Het |
Nrap |
T |
A |
19: 56,345,785 (GRCm39) |
T608S |
probably damaging |
Het |
Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
Or10x1 |
T |
C |
1: 174,197,136 (GRCm39) |
F218L |
probably benign |
Het |
Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
Or4c113 |
A |
T |
2: 88,884,891 (GRCm39) |
M293K |
probably benign |
Het |
Or52e8 |
T |
C |
7: 104,625,106 (GRCm39) |
I33V |
possibly damaging |
Het |
Or5ac25 |
A |
T |
16: 59,182,476 (GRCm39) |
V35D |
probably damaging |
Het |
Or5b119 |
T |
C |
19: 13,457,058 (GRCm39) |
N168S |
probably benign |
Het |
Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
Pde1a |
T |
C |
2: 79,696,065 (GRCm39) |
E358G |
probably damaging |
Het |
Pdlim1 |
A |
T |
19: 40,211,581 (GRCm39) |
S237R |
probably damaging |
Het |
Pithd1 |
T |
C |
4: 135,714,340 (GRCm39) |
D36G |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,088,976 (GRCm39) |
F449S |
probably benign |
Het |
Prr11 |
G |
A |
11: 86,989,580 (GRCm39) |
R264C |
possibly damaging |
Het |
Rbm43 |
A |
T |
2: 51,815,548 (GRCm39) |
H224Q |
probably benign |
Het |
Rfx5 |
C |
T |
3: 94,864,603 (GRCm39) |
L250F |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,103,982 (GRCm39) |
I160L |
probably benign |
Het |
Rorb |
T |
A |
19: 18,929,567 (GRCm39) |
Q393H |
probably damaging |
Het |
Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
Scaf8 |
T |
G |
17: 3,219,646 (GRCm39) |
S276R |
unknown |
Het |
Scube2 |
A |
T |
7: 109,408,421 (GRCm39) |
N675K |
probably benign |
Het |
Sec22c |
A |
T |
9: 121,517,320 (GRCm39) |
M126K |
possibly damaging |
Het |
Serpinb11 |
T |
C |
1: 107,297,210 (GRCm39) |
F29L |
probably damaging |
Het |
Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
Slc18a2 |
A |
G |
19: 59,263,085 (GRCm39) |
D294G |
possibly damaging |
Het |
Slc9c1 |
A |
G |
16: 45,413,835 (GRCm39) |
T988A |
possibly damaging |
Het |
Smndc1 |
A |
C |
19: 53,371,986 (GRCm39) |
|
probably null |
Het |
Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
Spatc1 |
A |
T |
15: 76,169,075 (GRCm39) |
|
probably null |
Het |
Stab2 |
A |
T |
10: 86,796,180 (GRCm39) |
C356S |
probably damaging |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,142,135 (GRCm39) |
|
probably null |
Het |
Tenm3 |
T |
C |
8: 48,681,626 (GRCm39) |
E2668G |
probably damaging |
Het |
Tigar |
A |
G |
6: 127,064,889 (GRCm39) |
V253A |
possibly damaging |
Het |
Tmc2 |
T |
A |
2: 130,056,584 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
A |
T |
1: 87,983,769 (GRCm39) |
Y189F |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,214,680 (GRCm39) |
D221G |
probably damaging |
Het |
Xkr5 |
C |
T |
8: 18,991,997 (GRCm39) |
V131M |
probably damaging |
Het |
|
Other mutations in Itga10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01473:Itga10
|
APN |
3 |
96,554,957 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01694:Itga10
|
APN |
3 |
96,559,833 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01754:Itga10
|
APN |
3 |
96,564,091 (GRCm39) |
unclassified |
probably benign |
|
IGL02527:Itga10
|
APN |
3 |
96,562,940 (GRCm39) |
unclassified |
probably benign |
|
IGL02956:Itga10
|
APN |
3 |
96,562,429 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03371:Itga10
|
APN |
3 |
96,562,104 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03055:Itga10
|
UTSW |
3 |
96,557,836 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4515001:Itga10
|
UTSW |
3 |
96,569,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R0153:Itga10
|
UTSW |
3 |
96,561,016 (GRCm39) |
missense |
probably benign |
0.00 |
R0308:Itga10
|
UTSW |
3 |
96,558,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R0331:Itga10
|
UTSW |
3 |
96,559,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0413:Itga10
|
UTSW |
3 |
96,556,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R0437:Itga10
|
UTSW |
3 |
96,556,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Itga10
|
UTSW |
3 |
96,565,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R0630:Itga10
|
UTSW |
3 |
96,563,615 (GRCm39) |
unclassified |
probably benign |
|
R0844:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R0849:Itga10
|
UTSW |
3 |
96,559,846 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0894:Itga10
|
UTSW |
3 |
96,560,976 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0919:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1027:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1341:Itga10
|
UTSW |
3 |
96,559,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1350:Itga10
|
UTSW |
3 |
96,564,793 (GRCm39) |
missense |
probably benign |
0.01 |
R1370:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1467:Itga10
|
UTSW |
3 |
96,559,545 (GRCm39) |
nonsense |
probably null |
|
R1467:Itga10
|
UTSW |
3 |
96,559,545 (GRCm39) |
nonsense |
probably null |
|
R1589:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1590:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1601:Itga10
|
UTSW |
3 |
96,560,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1659:Itga10
|
UTSW |
3 |
96,570,293 (GRCm39) |
missense |
probably damaging |
0.96 |
R1665:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1667:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1686:Itga10
|
UTSW |
3 |
96,559,141 (GRCm39) |
missense |
probably damaging |
0.97 |
R1976:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R2020:Itga10
|
UTSW |
3 |
96,559,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R2044:Itga10
|
UTSW |
3 |
96,565,006 (GRCm39) |
missense |
probably benign |
|
R2044:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R2045:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R2060:Itga10
|
UTSW |
3 |
96,562,314 (GRCm39) |
nonsense |
probably null |
|
R2146:Itga10
|
UTSW |
3 |
96,561,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R2146:Itga10
|
UTSW |
3 |
96,558,808 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2170:Itga10
|
UTSW |
3 |
96,557,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R2893:Itga10
|
UTSW |
3 |
96,562,416 (GRCm39) |
missense |
probably benign |
0.11 |
R2926:Itga10
|
UTSW |
3 |
96,560,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R3622:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R3623:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R4416:Itga10
|
UTSW |
3 |
96,565,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4633:Itga10
|
UTSW |
3 |
96,555,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5074:Itga10
|
UTSW |
3 |
96,559,527 (GRCm39) |
nonsense |
probably null |
|
R5095:Itga10
|
UTSW |
3 |
96,555,480 (GRCm39) |
missense |
probably benign |
0.21 |
R5495:Itga10
|
UTSW |
3 |
96,554,687 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5813:Itga10
|
UTSW |
3 |
96,559,901 (GRCm39) |
missense |
probably benign |
0.38 |
R6114:Itga10
|
UTSW |
3 |
96,556,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R6172:Itga10
|
UTSW |
3 |
96,554,753 (GRCm39) |
missense |
probably benign |
0.18 |
R6275:Itga10
|
UTSW |
3 |
96,565,501 (GRCm39) |
missense |
probably benign |
0.36 |
R6298:Itga10
|
UTSW |
3 |
96,564,078 (GRCm39) |
missense |
probably benign |
0.00 |
R6433:Itga10
|
UTSW |
3 |
96,565,357 (GRCm39) |
critical splice donor site |
probably null |
|
R6841:Itga10
|
UTSW |
3 |
96,564,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R6909:Itga10
|
UTSW |
3 |
96,569,915 (GRCm39) |
missense |
probably benign |
0.00 |
R6927:Itga10
|
UTSW |
3 |
96,564,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7124:Itga10
|
UTSW |
3 |
96,559,081 (GRCm39) |
missense |
probably damaging |
0.96 |
R7310:Itga10
|
UTSW |
3 |
96,555,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Itga10
|
UTSW |
3 |
96,560,094 (GRCm39) |
missense |
probably benign |
0.11 |
R7464:Itga10
|
UTSW |
3 |
96,555,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R7624:Itga10
|
UTSW |
3 |
96,560,269 (GRCm39) |
missense |
probably benign |
|
R7638:Itga10
|
UTSW |
3 |
96,564,707 (GRCm39) |
splice site |
probably null |
|
R7639:Itga10
|
UTSW |
3 |
96,556,898 (GRCm39) |
missense |
probably benign |
0.36 |
R7893:Itga10
|
UTSW |
3 |
96,556,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R8297:Itga10
|
UTSW |
3 |
96,562,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R8753:Itga10
|
UTSW |
3 |
96,558,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Itga10
|
UTSW |
3 |
96,564,273 (GRCm39) |
missense |
probably damaging |
1.00 |
X0064:Itga10
|
UTSW |
3 |
96,560,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGTTGGATAGACCCTGAC -3'
(R):5'- ACTCTCTGTGACTCACCCAG -3'
Sequencing Primer
(F):5'- GGATAGACCCTGACCCTCTC -3'
(R):5'- TCTCTGTGACTCACCCAGGTAGG -3'
|
Posted On |
2014-08-25 |