Incidental Mutation 'R0331:Itga10'
ID |
26034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
MMRRC Submission |
038540-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0331 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96559799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 485
(Y485H)
|
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: Y485H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210 AA Change: Y485H
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: Y485H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210 AA Change: Y485H
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 |
0.6994 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.8%
- 20x: 91.7%
|
Validation Efficiency |
100% (81/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
T |
A |
8: 79,956,021 (GRCm39) |
T79S |
probably benign |
Het |
Abtb1 |
T |
C |
6: 88,817,684 (GRCm39) |
|
probably benign |
Het |
Acot12 |
G |
A |
13: 91,908,183 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
A |
1: 171,078,541 (GRCm39) |
S54T |
probably benign |
Het |
Adgrl4 |
T |
C |
3: 151,203,577 (GRCm39) |
S96P |
probably benign |
Het |
Aip |
G |
T |
19: 4,168,247 (GRCm39) |
T40K |
probably damaging |
Het |
Anapc4 |
A |
G |
5: 53,012,984 (GRCm39) |
|
probably benign |
Het |
Asz1 |
A |
G |
6: 18,103,618 (GRCm39) |
|
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,538,161 (GRCm39) |
T465A |
possibly damaging |
Het |
Atp11a |
C |
T |
8: 12,866,953 (GRCm39) |
Q127* |
probably null |
Het |
Axin1 |
A |
G |
17: 26,362,081 (GRCm39) |
R142G |
probably damaging |
Het |
Bcat1 |
T |
A |
6: 144,993,040 (GRCm39) |
E86V |
probably benign |
Het |
Brd4 |
G |
A |
17: 32,421,489 (GRCm39) |
P749L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,496,394 (GRCm39) |
|
probably null |
Het |
Capza2 |
A |
T |
6: 17,665,102 (GRCm39) |
N237I |
probably benign |
Het |
Cd2ap |
A |
T |
17: 43,116,192 (GRCm39) |
V556E |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,968,460 (GRCm39) |
P124L |
probably damaging |
Het |
Cfap65 |
G |
T |
1: 74,968,461 (GRCm39) |
P124T |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,235,225 (GRCm39) |
V488A |
possibly damaging |
Het |
Ckmt1 |
A |
T |
2: 121,193,337 (GRCm39) |
|
probably null |
Het |
Cmya5 |
T |
G |
13: 93,280,911 (GRCm39) |
E35A |
possibly damaging |
Het |
Col7a1 |
A |
G |
9: 108,796,570 (GRCm39) |
|
probably benign |
Het |
Crmp1 |
C |
T |
5: 37,422,657 (GRCm39) |
L155F |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,291,227 (GRCm39) |
T33S |
probably benign |
Het |
Dhdh |
T |
C |
7: 45,137,544 (GRCm39) |
K48E |
probably benign |
Het |
Dlst |
T |
C |
12: 85,165,586 (GRCm39) |
V103A |
probably damaging |
Het |
Dohh |
C |
T |
10: 81,223,646 (GRCm39) |
T233I |
probably benign |
Het |
Dvl2 |
C |
A |
11: 69,897,043 (GRCm39) |
|
probably benign |
Het |
Eipr1 |
C |
T |
12: 28,914,703 (GRCm39) |
Q286* |
probably null |
Het |
Enpp6 |
C |
A |
8: 47,535,484 (GRCm39) |
T343K |
probably damaging |
Het |
Fbxw11 |
T |
A |
11: 32,661,895 (GRCm39) |
F112I |
probably damaging |
Het |
Gdpd4 |
T |
A |
7: 97,622,215 (GRCm39) |
N231K |
probably benign |
Het |
Gm6370 |
A |
T |
5: 146,430,576 (GRCm39) |
T254S |
probably benign |
Het |
Hapln4 |
G |
T |
8: 70,537,159 (GRCm39) |
Q31H |
probably damaging |
Het |
Hic1 |
T |
A |
11: 75,056,316 (GRCm39) |
T858S |
possibly damaging |
Het |
Isg20l2 |
T |
C |
3: 87,839,092 (GRCm39) |
L101P |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,905,853 (GRCm39) |
|
probably null |
Het |
Itln1 |
T |
C |
1: 171,359,117 (GRCm39) |
N62S |
probably damaging |
Het |
Kdm4b |
T |
C |
17: 56,693,289 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
C |
1: 128,226,479 (GRCm39) |
|
probably benign |
Het |
Lman2 |
A |
T |
13: 55,500,829 (GRCm39) |
H123Q |
probably damaging |
Het |
Lztr1 |
T |
A |
16: 17,342,101 (GRCm39) |
|
probably benign |
Het |
Myo3b |
G |
T |
2: 69,925,605 (GRCm39) |
G24V |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,549,441 (GRCm39) |
Q1250L |
possibly damaging |
Het |
Ncor2 |
A |
T |
5: 125,161,981 (GRCm39) |
M431K |
unknown |
Het |
Nek9 |
T |
A |
12: 85,374,149 (GRCm39) |
|
probably benign |
Het |
Neu1 |
C |
A |
17: 35,153,146 (GRCm39) |
N255K |
possibly damaging |
Het |
Nf2 |
T |
A |
11: 4,744,914 (GRCm39) |
T75S |
probably benign |
Het |
Nipal4 |
T |
A |
11: 46,041,040 (GRCm39) |
D385V |
probably damaging |
Het |
Olah |
T |
A |
2: 3,343,511 (GRCm39) |
N245I |
probably damaging |
Het |
Or5p54 |
G |
T |
7: 107,554,077 (GRCm39) |
L76F |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,767,030 (GRCm39) |
T90S |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,176,708 (GRCm39) |
|
probably null |
Het |
Parva |
A |
G |
7: 112,144,005 (GRCm39) |
M98V |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,834,255 (GRCm39) |
D177V |
possibly damaging |
Het |
Paxip1 |
A |
G |
5: 27,970,230 (GRCm39) |
I587T |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,730,390 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,355,713 (GRCm39) |
D1074E |
probably damaging |
Het |
Pef1 |
A |
T |
4: 130,021,241 (GRCm39) |
D265V |
probably damaging |
Het |
Plekhh2 |
G |
A |
17: 84,893,794 (GRCm39) |
E870K |
possibly damaging |
Het |
Plscr4 |
G |
A |
9: 92,364,695 (GRCm39) |
G40D |
probably damaging |
Het |
Psg18 |
A |
G |
7: 18,087,233 (GRCm39) |
Y142H |
probably benign |
Het |
Ptchd3 |
A |
T |
11: 121,733,017 (GRCm39) |
M636L |
probably benign |
Het |
Rab2a |
A |
G |
4: 8,572,559 (GRCm39) |
D51G |
probably benign |
Het |
Rnf139 |
T |
A |
15: 58,771,755 (GRCm39) |
D593E |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,217,552 (GRCm39) |
N422S |
probably benign |
Het |
Shprh |
T |
C |
10: 11,069,914 (GRCm39) |
|
probably benign |
Het |
Slc7a6os |
A |
G |
8: 106,937,199 (GRCm39) |
I87T |
probably damaging |
Het |
Slc7a7 |
A |
G |
14: 54,615,381 (GRCm39) |
|
probably benign |
Het |
Spc24 |
G |
T |
9: 21,668,609 (GRCm39) |
N129K |
possibly damaging |
Het |
Strip2 |
C |
T |
6: 29,926,559 (GRCm39) |
T148I |
probably benign |
Het |
Tmem150c |
A |
C |
5: 100,234,132 (GRCm39) |
|
probably null |
Het |
Trav13-5 |
A |
G |
14: 54,033,205 (GRCm39) |
N38S |
probably benign |
Het |
Ttn |
G |
T |
2: 76,641,364 (GRCm39) |
Y11801* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,493,223 (GRCm39) |
L688* |
probably null |
Het |
Usp38 |
T |
C |
8: 81,722,469 (GRCm39) |
I351V |
probably benign |
Het |
Vav2 |
T |
A |
2: 27,186,187 (GRCm39) |
M223L |
probably benign |
Het |
Wdr36 |
A |
G |
18: 32,985,968 (GRCm39) |
I557M |
possibly damaging |
Het |
Wwc2 |
A |
T |
8: 48,333,239 (GRCm39) |
M259K |
probably benign |
Het |
Znfx1 |
G |
A |
2: 166,888,898 (GRCm39) |
S770L |
probably benign |
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 |
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 |
|
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'- GCCTTATGCCTTCAGGAAACCCTC -3'
(R):5'- AAGCTCTCAAATATGTGTGCCTCCC -3'
Sequencing Primer
(F):5'- cccccCAGGGACTGGAC -3'
(R):5'- AAATATGTGTGCCTCCCTCTTC -3'
|
Posted On |
2013-04-16 |