Incidental Mutation 'IGL02956:Itga10'
ID |
365137 |
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 # |
IGL02956
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96562429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 737
(E737G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
AlphaFold |
E9Q6R1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029744
AA Change: E737G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210 AA Change: E737G
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 |
possibly damaging
Transcript: ENSMUST00000119365
AA Change: E737G
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210 AA Change: E737G
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
Akna |
G |
T |
4: 63,304,516 (GRCm39) |
T546K |
probably benign |
Het |
Albfm1 |
A |
G |
5: 90,727,497 (GRCm39) |
I372V |
possibly damaging |
Het |
Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
Gnl1 |
T |
C |
17: 36,298,504 (GRCm39) |
I416T |
probably benign |
Het |
Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
Sec14l1 |
G |
A |
11: 117,043,973 (GRCm39) |
D494N |
probably benign |
Het |
Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
Zfp276 |
T |
C |
8: 123,981,483 (GRCm39) |
L10P |
probably damaging |
Het |
Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
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 |
|
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 |
2015-12-18 |