Incidental Mutation 'PIT4515001:Itga10'
| ID |
556295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
PIT4515001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96645584-96664519 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96662632 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1120
(I1120N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029744
AA Change: I1121N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: I1121N
| 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: I1120N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: I1120N
| 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 |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 86.0%
- 20x: 75.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,661,111 (GRCm38) |
R966* |
probably null |
Het |
| Adam32 |
A |
T |
8: 24,914,326 (GRCm38) |
I221K |
possibly damaging |
Het |
| Adcy6 |
T |
C |
15: 98,595,146 (GRCm38) |
T880A |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,846,641 (GRCm38) |
Y28N |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,253,585 (GRCm38) |
I1125V |
probably damaging |
Het |
| B4galt6 |
A |
G |
18: 20,688,467 (GRCm38) |
Y335H |
probably benign |
Het |
| Bend3 |
A |
T |
10: 43,510,634 (GRCm38) |
E341V |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,974,236 (GRCm38) |
Y2351N |
probably damaging |
Het |
| Ccdc136 |
T |
A |
6: 29,417,226 (GRCm38) |
V682E |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,103,257 (GRCm38) |
C394R |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,034,683 (GRCm38) |
N845D |
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,682,303 (GRCm38) |
G890R |
unknown |
Het |
| Cyp1a2 |
C |
A |
9: 57,681,959 (GRCm38) |
V191L |
probably benign |
Het |
| Cyp51 |
A |
T |
5: 4,099,122 (GRCm38) |
|
probably null |
Het |
| Diras2 |
T |
C |
13: 52,507,747 (GRCm38) |
S175G |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,114,582 (GRCm38) |
F2242S |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,409,760 (GRCm38) |
N78Y |
probably benign |
Het |
| Fdft1 |
T |
A |
14: 63,164,583 (GRCm38) |
Q49L |
probably benign |
Het |
| Frem1 |
G |
T |
4: 82,900,426 (GRCm38) |
H2183Q |
probably damaging |
Het |
| Fut2 |
G |
A |
7: 45,650,466 (GRCm38) |
T294I |
probably damaging |
Het |
| Gabrb1 |
A |
C |
5: 71,700,817 (GRCm38) |
D62A |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,441,116 (GRCm38) |
Y263* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,702,568 (GRCm38) |
D178G |
probably benign |
Het |
| Gss |
T |
A |
2: 155,578,341 (GRCm38) |
T147S |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,267,416 (GRCm38) |
V315E |
probably benign |
Het |
| Hoxa3 |
C |
T |
6: 52,170,184 (GRCm38) |
G363E |
unknown |
Het |
| Ift140 |
A |
G |
17: 25,086,860 (GRCm38) |
N807S |
probably damaging |
Het |
| Iglc1 |
T |
G |
16: 19,061,951 (GRCm38) |
D40A |
|
Het |
| Jak3 |
T |
C |
8: 71,679,642 (GRCm38) |
V217A |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,794,883 (GRCm38) |
I280L |
probably benign |
Het |
| Kcnk1 |
G |
T |
8: 126,025,342 (GRCm38) |
G229V |
probably damaging |
Het |
| Kpna7 |
T |
C |
5: 145,005,052 (GRCm38) |
T143A |
probably benign |
Het |
| Letmd1 |
C |
T |
15: 100,476,802 (GRCm38) |
R310C |
probably damaging |
Het |
| Mga |
G |
A |
2: 119,916,504 (GRCm38) |
V379I |
probably damaging |
Het |
| Mto1 |
T |
A |
9: 78,457,417 (GRCm38) |
Y313N |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,807,416 (GRCm38) |
C1488Y |
probably damaging |
Het |
| Nde1 |
T |
A |
16: 14,170,493 (GRCm38) |
|
probably null |
Het |
| Nfatc3 |
T |
C |
8: 106,079,203 (GRCm38) |
S235P |
possibly damaging |
Het |
| Nup88 |
T |
C |
11: 70,944,721 (GRCm38) |
D602G |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,486,079 (GRCm38) |
M207K |
probably benign |
Het |
| Or2h1b |
A |
C |
17: 37,151,379 (GRCm38) |
S198A |
probably benign |
Het |
| Pcnx1 |
G |
A |
12: 81,991,787 (GRCm38) |
C1309Y |
|
Het |
| Phldb1 |
A |
G |
9: 44,715,960 (GRCm38) |
I396T |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,220,972 (GRCm38) |
M442T |
probably benign |
Het |
| Pramel41 |
A |
C |
5: 94,446,835 (GRCm38) |
K185Q |
probably benign |
Het |
| Prss53 |
G |
A |
7: 127,888,791 (GRCm38) |
T173I |
probably benign |
Het |
| Ptpn11 |
C |
A |
5: 121,164,554 (GRCm38) |
D156Y |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,690,105 (GRCm38) |
Y167H |
probably benign |
Het |
| Rpsa |
T |
A |
9: 120,131,148 (GRCm38) |
I259N |
probably benign |
Het |
| Rrm2b |
G |
T |
15: 37,946,804 (GRCm38) |
D84E |
probably benign |
Het |
| Scgb2b19 |
A |
T |
7: 33,279,611 (GRCm38) |
|
probably null |
Het |
| Sik3 |
T |
C |
9: 46,208,731 (GRCm38) |
L706P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,133,253 (GRCm38) |
E426D |
probably damaging |
Het |
| Slc8a2 |
C |
A |
7: 16,140,579 (GRCm38) |
L251I |
possibly damaging |
Het |
| Taf6 |
T |
C |
5: 138,182,242 (GRCm38) |
K287E |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,860,242 (GRCm38) |
T702I |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,199,319 (GRCm38) |
F35I |
possibly damaging |
Het |
| Tle2 |
A |
G |
10: 81,587,130 (GRCm38) |
Q454R |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,621,147 (GRCm38) |
N425S |
probably benign |
Het |
| Utp3 |
A |
G |
5: 88,554,705 (GRCm38) |
D31G |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,702,486 (GRCm38) |
R49* |
probably null |
Het |
| Ybx2 |
T |
A |
11: 69,940,398 (GRCm38) |
V273E |
probably benign |
Het |
| Zbtb22 |
G |
A |
17: 33,918,698 (GRCm38) |
A606T |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,700,932 (GRCm38) |
D514E |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,096 (GRCm38) |
I244F |
probably benign |
Het |
| Zglp1 |
T |
C |
9: 21,066,189 (GRCm38) |
N110S |
probably benign |
Het |
|
| Other mutations in Itga10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Itga10
|
APN |
3 |
96,647,641 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01694:Itga10
|
APN |
3 |
96,652,517 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01754:Itga10
|
APN |
3 |
96,656,775 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02527:Itga10
|
APN |
3 |
96,655,624 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02956:Itga10
|
APN |
3 |
96,655,113 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03371:Itga10
|
APN |
3 |
96,654,788 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL03055:Itga10
|
UTSW |
3 |
96,650,520 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0153:Itga10
|
UTSW |
3 |
96,653,700 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0308:Itga10
|
UTSW |
3 |
96,651,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0331:Itga10
|
UTSW |
3 |
96,652,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0413:Itga10
|
UTSW |
3 |
96,649,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0437:Itga10
|
UTSW |
3 |
96,649,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0511:Itga10
|
UTSW |
3 |
96,658,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0630:Itga10
|
UTSW |
3 |
96,656,299 (GRCm38) |
unclassified |
probably benign |
|
|
R0844:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R0849:Itga10
|
UTSW |
3 |
96,652,530 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0894:Itga10
|
UTSW |
3 |
96,653,660 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0919:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1027:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1341:Itga10
|
UTSW |
3 |
96,652,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1350:Itga10
|
UTSW |
3 |
96,657,477 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1370:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1467:Itga10
|
UTSW |
3 |
96,652,229 (GRCm38) |
nonsense |
probably null |
|
|
R1467:Itga10
|
UTSW |
3 |
96,652,229 (GRCm38) |
nonsense |
probably null |
|
|
R1589:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1590:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1601:Itga10
|
UTSW |
3 |
96,653,658 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1659:Itga10
|
UTSW |
3 |
96,662,977 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1665:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1667:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1686:Itga10
|
UTSW |
3 |
96,651,825 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1972:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R1976:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R2020:Itga10
|
UTSW |
3 |
96,652,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2040:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,657,690 (GRCm38) |
missense |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R2045:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R2060:Itga10
|
UTSW |
3 |
96,654,998 (GRCm38) |
nonsense |
probably null |
|
|
R2146:Itga10
|
UTSW |
3 |
96,653,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2146:Itga10
|
UTSW |
3 |
96,651,492 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R2170:Itga10
|
UTSW |
3 |
96,650,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2893:Itga10
|
UTSW |
3 |
96,655,100 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2926:Itga10
|
UTSW |
3 |
96,652,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3622:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R3623:Itga10
|
UTSW |
3 |
96,651,738 (GRCm38) |
splice site |
probably benign |
|
|
R4416:Itga10
|
UTSW |
3 |
96,658,246 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4633:Itga10
|
UTSW |
3 |
96,647,704 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5074:Itga10
|
UTSW |
3 |
96,652,211 (GRCm38) |
nonsense |
probably null |
|
|
R5095:Itga10
|
UTSW |
3 |
96,648,164 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5495:Itga10
|
UTSW |
3 |
96,647,371 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5813:Itga10
|
UTSW |
3 |
96,652,585 (GRCm38) |
missense |
probably benign |
0.38 |
|
R6114:Itga10
|
UTSW |
3 |
96,649,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6172:Itga10
|
UTSW |
3 |
96,647,437 (GRCm38) |
missense |
probably benign |
0.18 |
|
R6275:Itga10
|
UTSW |
3 |
96,658,185 (GRCm38) |
missense |
probably benign |
0.36 |
|
R6298:Itga10
|
UTSW |
3 |
96,656,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6433:Itga10
|
UTSW |
3 |
96,658,041 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6841:Itga10
|
UTSW |
3 |
96,656,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6909:Itga10
|
UTSW |
3 |
96,662,599 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6927:Itga10
|
UTSW |
3 |
96,656,714 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7124:Itga10
|
UTSW |
3 |
96,651,765 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7310:Itga10
|
UTSW |
3 |
96,648,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7387:Itga10
|
UTSW |
3 |
96,652,778 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7464:Itga10
|
UTSW |
3 |
96,648,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7624:Itga10
|
UTSW |
3 |
96,652,953 (GRCm38) |
missense |
probably benign |
|
|
R7638:Itga10
|
UTSW |
3 |
96,657,391 (GRCm38) |
splice site |
probably null |
|
|
R7639:Itga10
|
UTSW |
3 |
96,649,582 (GRCm38) |
missense |
probably benign |
0.36 |
|
R7893:Itga10
|
UTSW |
3 |
96,649,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8297:Itga10
|
UTSW |
3 |
96,654,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8753:Itga10
|
UTSW |
3 |
96,651,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9526:Itga10
|
UTSW |
3 |
96,656,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Itga10
|
UTSW |
3 |
96,652,936 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGGCTGAGTTAAAGGGC -3'
(R):5'- TCATTTGTGGGACAGAGTCAAG -3'
Sequencing Primer
(F):5'- GATGCCTGCCTGTAATTCAAG -3'
(R):5'- TCAAGGAGAGCTGAACATGGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation