Incidental Mutation 'R8753:Itga10'
| ID |
663960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
068619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 96558471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 305
(L305R)
|
| 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: L305R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: L305R
| 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: L305R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: L305R
| 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 |
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 |
0.7289 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (59/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,332,706 (GRCm39) |
Y1496H |
probably damaging |
Het |
| Acan |
G |
A |
7: 78,748,516 (GRCm39) |
E1096K |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,118 (GRCm39) |
K1547E |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Arf4 |
T |
A |
14: 26,374,114 (GRCm39) |
|
probably benign |
Het |
| Boc |
A |
T |
16: 44,320,775 (GRCm39) |
M295K |
|
Het |
| C2cd3 |
T |
A |
7: 100,049,024 (GRCm39) |
|
probably null |
Het |
| Calcrl |
C |
G |
2: 84,178,659 (GRCm39) |
G223A |
probably benign |
Het |
| Calcrl |
C |
A |
2: 84,178,661 (GRCm39) |
M222I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccz1 |
A |
G |
5: 143,925,050 (GRCm39) |
C469R |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,223,958 (GRCm39) |
G251S |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cpox |
T |
A |
16: 58,498,391 (GRCm39) |
M408K |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,226,247 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
T |
2: 13,313,377 (GRCm39) |
C3064* |
probably null |
Het |
| Cxcl3 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTG |
5: 90,934,071 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,158 (GRCm39) |
S432C |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,508,668 (GRCm39) |
F416I |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,074,398 (GRCm39) |
T612A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,867 (GRCm39) |
T1089A |
probably damaging |
Het |
| Gm12117 |
A |
T |
11: 33,225,953 (GRCm39) |
L128M |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Ibtk |
T |
C |
9: 85,610,819 (GRCm39) |
T285A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,301,223 (GRCm39) |
N818K |
unknown |
Het |
| Khnyn |
T |
C |
14: 56,125,223 (GRCm39) |
Y461H |
possibly damaging |
Het |
| Macroh2a2 |
T |
C |
10: 61,585,113 (GRCm39) |
D177G |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,235,601 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,013 (GRCm39) |
E246G |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,575,085 (GRCm39) |
I737V |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,102,320 (GRCm39) |
S373A |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,534,329 (GRCm39) |
Y2936C |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,307,542 (GRCm39) |
I1685F |
probably damaging |
Het |
| Nt5c3 |
C |
G |
6: 56,860,677 (GRCm39) |
G293R |
probably damaging |
Het |
| Or4f14c |
A |
T |
2: 111,940,802 (GRCm39) |
V265E |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,567 (GRCm39) |
I306F |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,613,999 (GRCm39) |
V484E |
probably benign |
Het |
| Pcsk5 |
C |
T |
19: 17,446,408 (GRCm39) |
R1195Q |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,704 (GRCm39) |
V861A |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,793,176 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,513,702 (GRCm39) |
E846* |
probably null |
Het |
| Polr3e |
T |
C |
7: 120,539,540 (GRCm39) |
V455A |
possibly damaging |
Het |
| Prr5l |
C |
T |
2: 101,571,723 (GRCm39) |
G118D |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,242,400 (GRCm39) |
N685K |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,757,600 (GRCm39) |
V56A |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,179,662 (GRCm39) |
D1341G |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,275,330 (GRCm39) |
T123A |
probably benign |
Het |
| Slc23a1 |
T |
G |
18: 35,752,631 (GRCm39) |
K549Q |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,841,443 (GRCm39) |
F430S |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,319,070 (GRCm39) |
V707M |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,916,015 (GRCm39) |
S887G |
probably damaging |
Het |
| T2 |
T |
C |
17: 8,615,477 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
A |
G |
11: 119,101,492 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcf7l2 |
T |
C |
19: 55,920,195 (GRCm39) |
L576P |
possibly damaging |
Het |
| Tnr |
A |
G |
1: 159,677,936 (GRCm39) |
D107G |
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,135,082 (GRCm39) |
K426N |
probably damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,895 (GRCm39) |
L254F |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,191 (GRCm39) |
I127F |
probably damaging |
Het |
| Zc3h14 |
A |
T |
12: 98,724,831 (GRCm39) |
E164D |
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 |
|
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 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,565,006 (GRCm39) |
missense |
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 |
|
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'- TTGACTCTGTATCTAGAAAGACTGAGG -3'
(R):5'- GCTCTACTGAACTCACTCCAGAAG -3'
Sequencing Primer
(F):5'- GTATTAACCACTGCCTGGA -3'
(R):5'- GGACTTCTGTTTCGCCAGGATAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation