Incidental Mutation 'R8297:Itga10'
| ID |
639004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
067853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R8297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96562116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 668
(R668G)
|
| 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: R668G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: R668G
| 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: R668G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: R668G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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 |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,578 (GRCm39) |
L73P |
probably damaging |
Het |
| 4933412E24Rik |
T |
G |
15: 59,887,524 (GRCm39) |
R305S |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 58,970,920 (GRCm39) |
V168E |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,576,097 (GRCm39) |
L443Q |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,491,616 (GRCm39) |
Y887H |
probably damaging |
Het |
| Arhgef2 |
A |
T |
3: 88,546,739 (GRCm39) |
H553L |
probably benign |
Het |
| Atxn1 |
G |
T |
13: 45,720,505 (GRCm39) |
N463K |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,932,099 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
G |
1: 130,564,482 (GRCm39) |
S401P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,697,609 (GRCm39) |
R457W |
probably damaging |
Het |
| Chek2 |
T |
G |
5: 110,996,302 (GRCm39) |
Y127D |
probably damaging |
Het |
| Clec4a1 |
G |
A |
6: 122,898,960 (GRCm39) |
V10M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,701,028 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,679,929 (GRCm39) |
F122S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,998,689 (GRCm39) |
L548H |
unknown |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dsg1a |
A |
C |
18: 20,465,090 (GRCm39) |
N427T |
probably benign |
Het |
| Ear14 |
A |
T |
14: 51,441,564 (GRCm39) |
D140V |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,547 (GRCm39) |
F154C |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,507,321 (GRCm39) |
V12M |
probably damaging |
Het |
| Fbxo40 |
G |
A |
16: 36,789,670 (GRCm39) |
T480I |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,001,048 (GRCm39) |
Y322N |
probably damaging |
Het |
| Gca |
T |
C |
2: 62,516,700 (GRCm39) |
M132T |
probably benign |
Het |
| Ifi203 |
T |
G |
1: 173,765,496 (GRCm39) |
K26T |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,638 (GRCm39) |
I1185T |
unknown |
Het |
| Kcnj13 |
A |
T |
1: 87,314,189 (GRCm39) |
N344K |
probably damaging |
Het |
| Kdm5a |
A |
T |
6: 120,358,516 (GRCm39) |
L186F |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,010,954 (GRCm39) |
N624D |
probably benign |
Het |
| Klrb1 |
G |
T |
6: 128,689,222 (GRCm39) |
T83K |
possibly damaging |
Het |
| Krt77 |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
15: 101,768,407 (GRCm39) |
|
probably benign |
Het |
| Ltb |
G |
T |
17: 35,413,655 (GRCm39) |
R53L |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,055,222 (GRCm39) |
V69A |
|
Het |
| Mvb12a |
A |
G |
8: 71,997,888 (GRCm39) |
K101E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,464,409 (GRCm39) |
Q1110L |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,198,775 (GRCm39) |
T389S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,173,069 (GRCm39) |
F11L |
probably damaging |
Het |
| Or10p22 |
T |
C |
10: 128,826,708 (GRCm39) |
L309P |
possibly damaging |
Het |
| Or2a54 |
A |
G |
6: 43,093,440 (GRCm39) |
I255V |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or52e8b |
C |
T |
7: 104,673,885 (GRCm39) |
G97R |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,153,880 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Pde4a |
C |
T |
9: 21,077,404 (GRCm39) |
P61S |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Prr5l |
A |
G |
2: 101,571,630 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
G |
A |
6: 124,705,614 (GRCm39) |
T179I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 14,104,836 (GRCm39) |
S34P |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 73,812,814 (GRCm39) |
C293* |
probably null |
Het |
| Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,122,506 (GRCm39) |
V157E |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,034,283 (GRCm39) |
T498A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,979,358 (GRCm39) |
V163I |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,582,302 (GRCm39) |
C187S |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,616,485 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,336,905 (GRCm39) |
A210T |
possibly damaging |
Het |
| Vangl2 |
C |
A |
1: 171,837,513 (GRCm39) |
V99F |
possibly damaging |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,215 (GRCm39) |
C267Y |
probably damaging |
Het |
| Vsig10l |
T |
C |
7: 43,113,531 (GRCm39) |
V161A |
possibly damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,364,244 (GRCm39) |
R232Q |
possibly damaging |
Het |
| Xrcc6 |
C |
G |
15: 81,913,463 (GRCm39) |
F365L |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,257 (GRCm39) |
Y389C |
probably 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 |
|
|
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 |
|
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'- TTCTGGTTCTGAAGCGCAAG -3'
(R):5'- CTTATGTCTGAATGGGAGAGGC -3'
Sequencing Primer
(F):5'- AGCCCAGATGCTCCAGAG -3'
(R):5'- TCTGAATGGGAGAGGCAGGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation