Incidental Mutation 'R2020:Itga10'
ID |
223781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
MMRRC Submission |
040029-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R2020 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 96559806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 487
(G487D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
AlphaFold |
E9Q6R1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029744
AA Change: G487D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210 AA Change: G487D
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 damaging
Transcript: ENSMUST00000119365
AA Change: G487D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210 AA Change: G487D
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 |
noncoding transcript
Transcript: ENSMUST00000127607
|
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 |
0.7915 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
99% (87/88) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012P17Rik |
C |
A |
1: 158,796,482 (GRCm39) |
|
noncoding transcript |
Het |
Adam17 |
G |
A |
12: 21,399,876 (GRCm39) |
R177C |
probably damaging |
Het |
Ak7 |
G |
A |
12: 105,711,591 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
C |
5: 4,011,967 (GRCm39) |
V890A |
probably damaging |
Het |
Alg6 |
A |
G |
4: 99,626,369 (GRCm39) |
N59S |
probably damaging |
Het |
Alkbh5 |
G |
T |
11: 60,429,375 (GRCm39) |
A43S |
probably benign |
Het |
Anxa2 |
C |
A |
9: 69,391,099 (GRCm39) |
D162E |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,050,725 (GRCm39) |
H1136R |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,730,900 (GRCm39) |
R121G |
probably benign |
Het |
Arhgef4 |
A |
T |
1: 34,762,891 (GRCm39) |
T716S |
unknown |
Het |
Atg2a |
T |
C |
19: 6,300,299 (GRCm39) |
|
probably null |
Het |
Ccdc27 |
T |
C |
4: 154,117,770 (GRCm39) |
I480V |
probably null |
Het |
Cdipt |
T |
C |
7: 126,576,105 (GRCm39) |
V20A |
possibly damaging |
Het |
Cgrrf1 |
C |
T |
14: 47,067,902 (GRCm39) |
|
probably benign |
Het |
Chd7 |
G |
A |
4: 8,855,226 (GRCm39) |
V2152I |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,452,698 (GRCm39) |
S1274C |
probably damaging |
Het |
Chuk |
A |
T |
19: 44,095,782 (GRCm39) |
M17K |
possibly damaging |
Het |
Col14a1 |
C |
T |
15: 55,309,577 (GRCm39) |
|
probably benign |
Het |
Col20a1 |
G |
A |
2: 180,654,956 (GRCm39) |
|
probably null |
Het |
Cped1 |
A |
G |
6: 22,143,963 (GRCm39) |
I570V |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Ddx27 |
A |
C |
2: 166,875,691 (GRCm39) |
Q674P |
probably damaging |
Het |
Dennd6a |
T |
A |
14: 26,333,158 (GRCm39) |
F131L |
probably damaging |
Het |
Dhx38 |
G |
A |
8: 110,283,501 (GRCm39) |
|
probably benign |
Het |
Dido1 |
G |
T |
2: 180,301,378 (GRCm39) |
N2175K |
unknown |
Het |
Dmxl1 |
T |
A |
18: 50,022,625 (GRCm39) |
Y1654* |
probably null |
Het |
Dock7 |
T |
A |
4: 98,847,338 (GRCm39) |
H1658L |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,162,925 (GRCm39) |
I555V |
probably benign |
Het |
Eif2ak2 |
T |
C |
17: 79,171,392 (GRCm39) |
E337G |
possibly damaging |
Het |
Fabp12 |
T |
A |
3: 10,315,209 (GRCm39) |
D46V |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,855,019 (GRCm39) |
S1882P |
probably benign |
Het |
Fech |
C |
T |
18: 64,611,798 (GRCm39) |
E79K |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,444,362 (GRCm39) |
I693F |
probably damaging |
Het |
Foxp2 |
G |
A |
6: 15,324,643 (GRCm39) |
C97Y |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,710,894 (GRCm39) |
M884T |
probably benign |
Het |
Gtf2ird1 |
T |
C |
5: 134,445,947 (GRCm39) |
D28G |
probably damaging |
Het |
Gtf3c4 |
C |
A |
2: 28,723,906 (GRCm39) |
G468W |
possibly damaging |
Het |
Ift172 |
A |
T |
5: 31,424,585 (GRCm39) |
L201* |
probably null |
Het |
Ift70a1 |
A |
G |
2: 75,811,279 (GRCm39) |
V268A |
probably benign |
Het |
Il1rl2 |
C |
A |
1: 40,404,374 (GRCm39) |
S498R |
probably damaging |
Het |
Ildr1 |
C |
T |
16: 36,545,903 (GRCm39) |
R489W |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,448,640 (GRCm39) |
N128D |
probably benign |
Het |
Lgr6 |
G |
A |
1: 135,003,013 (GRCm39) |
T79M |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,620,651 (GRCm39) |
T232A |
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,469,060 (GRCm39) |
L328P |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,824,163 (GRCm39) |
Y138H |
probably damaging |
Het |
Ngef |
T |
C |
1: 87,473,690 (GRCm39) |
R31G |
probably benign |
Het |
Nipsnap2 |
C |
A |
5: 129,830,287 (GRCm39) |
|
probably null |
Het |
Nlgn2 |
G |
T |
11: 69,719,267 (GRCm39) |
N194K |
probably damaging |
Het |
Or1q1 |
G |
A |
2: 36,887,664 (GRCm39) |
V281M |
possibly damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
Or5b98 |
G |
A |
19: 12,931,696 (GRCm39) |
V248I |
possibly damaging |
Het |
Or5m13b |
A |
G |
2: 85,754,087 (GRCm39) |
I158M |
probably benign |
Het |
Or8c16 |
A |
G |
9: 38,130,728 (GRCm39) |
Y203C |
possibly damaging |
Het |
Pcca |
T |
A |
14: 123,050,634 (GRCm39) |
M101K |
possibly damaging |
Het |
Plekha6 |
A |
G |
1: 133,212,708 (GRCm39) |
T671A |
possibly damaging |
Het |
Prex2 |
G |
A |
1: 11,232,536 (GRCm39) |
V868M |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,284,332 (GRCm39) |
V501I |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,168,595 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 76,051,398 (GRCm39) |
V41A |
probably damaging |
Het |
Rab39 |
C |
T |
9: 53,597,698 (GRCm39) |
G189E |
possibly damaging |
Het |
Ret |
T |
C |
6: 118,157,343 (GRCm39) |
K236E |
possibly damaging |
Het |
Rfx6 |
G |
A |
10: 51,596,153 (GRCm39) |
|
probably null |
Het |
Rnf213 |
A |
G |
11: 119,352,744 (GRCm39) |
T3916A |
probably damaging |
Het |
Rpn1 |
A |
G |
6: 88,072,665 (GRCm39) |
N336S |
probably damaging |
Het |
Sag |
G |
A |
1: 87,733,037 (GRCm39) |
A2T |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,256,063 (GRCm39) |
Y197C |
probably damaging |
Het |
Sec23b |
T |
C |
2: 144,408,864 (GRCm39) |
I183T |
possibly damaging |
Het |
Sec24b |
C |
T |
3: 129,781,377 (GRCm39) |
V1166M |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,727,339 (GRCm39) |
F361Y |
probably damaging |
Het |
Spaca9 |
A |
G |
2: 28,586,013 (GRCm39) |
L17P |
probably damaging |
Het |
Sqor |
T |
C |
2: 122,646,027 (GRCm39) |
|
probably null |
Het |
Stx18 |
A |
G |
5: 38,292,588 (GRCm39) |
H230R |
probably damaging |
Het |
Tas2r130 |
A |
T |
6: 131,607,732 (GRCm39) |
I21N |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,570,658 (GRCm39) |
S365P |
possibly damaging |
Het |
Tinagl1 |
G |
A |
4: 130,060,765 (GRCm39) |
H351Y |
probably damaging |
Het |
Tmc2 |
T |
C |
2: 130,074,305 (GRCm39) |
Y333H |
probably damaging |
Het |
Trp53bp2 |
A |
T |
1: 182,270,384 (GRCm39) |
T395S |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,773 (GRCm39) |
S751P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,657,368 (GRCm39) |
|
probably benign |
Het |
Ugdh |
T |
C |
5: 65,574,268 (GRCm39) |
Y425C |
probably damaging |
Het |
Vmn1r115 |
G |
A |
7: 20,578,094 (GRCm39) |
L273F |
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,761,448 (GRCm39) |
C636* |
probably null |
Het |
Vmn2r59 |
A |
C |
7: 41,693,203 (GRCm39) |
Y466D |
probably damaging |
Het |
Zic5 |
C |
T |
14: 122,702,242 (GRCm39) |
G163D |
unknown |
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 |
R1972:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
R1976:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
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'- CATCAACAGAGGGTGGGACC -3'
(R):5'- TGGTGACCTTTGCCCCTTAG -3'
Sequencing Primer
(F):5'- GACCCTTGGACCGCTTC -3'
(R):5'- GCAAGCTCTCAAATATGTGTGCC -3'
|
Posted On |
2014-08-25 |