Incidental Mutation 'R7624:Itga10'
| ID |
589306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
045689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R7624 (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 A
at 96560269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 594
(H594Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029744
AA Change: H594Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: H594Q
| 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
AA Change: H594Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: H594Q
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
C |
A |
9: 53,366,068 (GRCm39) |
R2533L |
probably damaging |
Het |
| Caprin1 |
T |
A |
2: 103,603,022 (GRCm39) |
M514L |
possibly damaging |
Het |
| Ccdc78 |
A |
G |
17: 26,006,126 (GRCm39) |
E98G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,865 (GRCm39) |
M2741K |
possibly damaging |
Het |
| Cnot1 |
T |
G |
8: 96,478,447 (GRCm39) |
R959S |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,553,076 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
G |
1: 82,696,605 (GRCm39) |
T177A |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,279,307 (GRCm39) |
N211D |
possibly damaging |
Het |
| Cripto |
C |
T |
9: 110,775,017 (GRCm39) |
|
probably benign |
Het |
| Cryba1 |
T |
C |
11: 77,613,543 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,377,897 (GRCm39) |
I632N |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,126,498 (GRCm39) |
N1504S |
probably damaging |
Het |
| Dgkz |
C |
A |
2: 91,773,019 (GRCm39) |
R346L |
probably damaging |
Het |
| Dnajc21 |
G |
A |
15: 10,461,318 (GRCm39) |
R211C |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,461,320 (GRCm39) |
I210N |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,400,262 (GRCm39) |
T94A |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,871,165 (GRCm39) |
D3742G |
possibly damaging |
Het |
| Ficd |
T |
C |
5: 113,876,751 (GRCm39) |
F309L |
probably benign |
Het |
| Gfra1 |
A |
T |
19: 58,226,878 (GRCm39) |
M451K |
probably benign |
Het |
| Gm43517 |
T |
A |
12: 49,437,961 (GRCm39) |
L318Q |
|
Het |
| Gsc |
A |
T |
12: 104,439,310 (GRCm39) |
V22E |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,168,280 (GRCm39) |
Y100H |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,226,137 (GRCm39) |
D28G |
probably benign |
Het |
| Kiss1 |
A |
G |
1: 133,257,160 (GRCm39) |
K53R |
possibly damaging |
Het |
| Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,859,307 (GRCm39) |
D269G |
probably benign |
Het |
| Letm2 |
A |
T |
8: 26,082,553 (GRCm39) |
C174* |
probably null |
Het |
| Met |
T |
G |
6: 17,558,834 (GRCm39) |
V1154G |
probably damaging |
Het |
| Mindy3 |
A |
G |
2: 12,424,000 (GRCm39) |
S22P |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,946,613 (GRCm39) |
R471Q |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,435,252 (GRCm39) |
L604P |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,683 (GRCm39) |
Q173R |
probably damaging |
Het |
| Or14a256 |
A |
G |
7: 86,265,769 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or5h18 |
T |
A |
16: 58,847,382 (GRCm39) |
Q296L |
possibly damaging |
Het |
| Or8b3b |
C |
T |
9: 38,583,919 (GRCm39) |
V274I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,564 (GRCm39) |
I199N |
possibly damaging |
Het |
| Or9r7 |
A |
C |
10: 129,962,455 (GRCm39) |
I157S |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,132,849 (GRCm39) |
Y639* |
probably null |
Het |
| Pom121l2 |
A |
T |
13: 22,167,699 (GRCm39) |
I657L |
probably damaging |
Het |
| Prr14l |
T |
A |
5: 32,986,967 (GRCm39) |
T843S |
possibly damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,499 (GRCm39) |
N93K |
probably damaging |
Het |
| Rpl3l |
A |
T |
17: 24,951,401 (GRCm39) |
M101L |
probably benign |
Het |
| Rtkn |
A |
G |
6: 83,129,158 (GRCm39) |
Y551C |
probably benign |
Het |
| Rundc1 |
G |
C |
11: 101,324,305 (GRCm39) |
R337P |
possibly damaging |
Het |
| Scarf1 |
T |
A |
11: 75,405,242 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,275,622 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
A |
T |
5: 113,422,201 (GRCm39) |
C484* |
probably null |
Het |
| Slc22a19 |
T |
A |
19: 7,650,668 (GRCm39) |
K547* |
probably null |
Het |
| Slc22a19 |
T |
C |
19: 7,671,183 (GRCm39) |
T177A |
probably benign |
Het |
| Slc6a5 |
A |
C |
7: 49,591,614 (GRCm39) |
K526N |
probably benign |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,518,627 (GRCm39) |
I517T |
probably benign |
Het |
| Taf15 |
A |
T |
11: 83,395,849 (GRCm39) |
D518V |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,545,192 (GRCm39) |
M2440V |
possibly damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,518,458 (GRCm39) |
M122V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,728,053 (GRCm39) |
S548T |
possibly damaging |
Het |
| Trim62 |
A |
T |
4: 128,777,471 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,039,141 (GRCm39) |
V507M |
possibly damaging |
Het |
| Usp16 |
T |
A |
16: 87,273,693 (GRCm39) |
M423K |
probably benign |
Het |
| Vmn1r199 |
T |
A |
13: 22,566,906 (GRCm39) |
S67T |
probably benign |
Het |
| Vmn1r62 |
A |
T |
7: 5,678,600 (GRCm39) |
M94L |
probably benign |
Het |
| Wnk4 |
G |
T |
11: 101,155,180 (GRCm39) |
E364* |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,232,584 (GRCm39) |
I368N |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,382,804 (GRCm39) |
T656A |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,666,338 (GRCm39) |
M113V |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,097,994 (GRCm39) |
V134A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCCAAGGAACCCTTCAG -3'
(R):5'- GGAAGAAAGTTTTGCCTATCTCGG -3'
Sequencing Primer
(F):5'- TTCAGCCAGACCGTTCCCAG -3'
(R):5'- AAAGTTTTGCCTATCTCGGTTTTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation