Incidental Mutation 'IGL02527:Itga10'
ID |
297170 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL02527
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 96562940 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 |
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
Cpq |
A |
G |
15: 33,302,509 (GRCm39) |
Y220C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,834,161 (GRCm39) |
N208K |
possibly damaging |
Het |
Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
Rusf1 |
T |
A |
7: 127,875,403 (GRCm39) |
T317S |
possibly damaging |
Het |
Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
Vmn2r117 |
A |
G |
17: 23,696,199 (GRCm39) |
Y403H |
possibly damaging |
Het |
Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly 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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |