Incidental Mutation 'R6298:Itga10'
| ID |
508877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
044408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R6298 (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 96564078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 911
(T911A)
|
| 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: T912A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: T912A
| 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: T911A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: T911A
| 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 |
|
| Meta Mutation Damage Score |
0.0733 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (79/81) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,833 (GRCm39) |
M733L |
probably benign |
Het |
| Acss3 |
G |
A |
10: 106,920,717 (GRCm39) |
P131L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,539,886 (GRCm39) |
I5678F |
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,902,586 (GRCm39) |
L6F |
possibly damaging |
Het |
| Ank3 |
G |
T |
10: 69,686,006 (GRCm39) |
R273L |
probably damaging |
Het |
| Anks1b |
G |
A |
10: 90,516,699 (GRCm39) |
G898D |
probably damaging |
Het |
| Anxa11 |
C |
T |
14: 25,873,158 (GRCm39) |
P131S |
unknown |
Het |
| Ap4e1 |
T |
A |
2: 126,889,035 (GRCm39) |
M500K |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,141,922 (GRCm39) |
S138P |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,344,193 (GRCm39) |
V670A |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,306 (GRCm39) |
W236R |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,262,451 (GRCm39) |
Y702* |
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,086,124 (GRCm39) |
E896V |
probably damaging |
Het |
| Cntln |
T |
A |
4: 85,014,998 (GRCm39) |
N1096K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,747 (GRCm39) |
C544R |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,655,675 (GRCm39) |
L452Q |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,397,037 (GRCm39) |
K294N |
possibly damaging |
Het |
| Dcakd |
T |
G |
11: 102,890,618 (GRCm39) |
E56D |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,998,987 (GRCm39) |
I929V |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,382,467 (GRCm39) |
H1214Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,006 (GRCm39) |
D536G |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,284,596 (GRCm39) |
N467S |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,084,118 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
G |
4: 58,877,157 (GRCm39) |
T93P |
probably damaging |
Het |
| Evpl |
A |
T |
11: 116,121,748 (GRCm39) |
L378Q |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,866,660 (GRCm39) |
H1520Q |
probably damaging |
Het |
| Fhod1 |
A |
T |
8: 106,063,780 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
A |
11: 42,073,205 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm14137 |
A |
G |
2: 119,005,572 (GRCm39) |
T44A |
possibly damaging |
Het |
| H2bl1 |
T |
A |
13: 99,120,974 (GRCm39) |
R17S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,841,013 (GRCm39) |
M3444T |
probably benign |
Het |
| Igsf5 |
T |
C |
16: 96,197,648 (GRCm39) |
S208P |
possibly damaging |
Het |
| Ino80b |
A |
G |
6: 83,102,066 (GRCm39) |
L12P |
possibly damaging |
Het |
| Insrr |
A |
G |
3: 87,720,272 (GRCm39) |
D970G |
probably damaging |
Het |
| Iqcf4 |
G |
A |
9: 106,445,874 (GRCm39) |
A91V |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,469,869 (GRCm39) |
V1446A |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,285,086 (GRCm39) |
D314V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,659,074 (GRCm39) |
V330A |
possibly damaging |
Het |
| Myef2l |
T |
C |
3: 10,154,239 (GRCm39) |
I336T |
probably damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,359,944 (GRCm39) |
D306E |
possibly damaging |
Het |
| Notum |
T |
A |
11: 120,548,766 (GRCm39) |
I187F |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,892,640 (GRCm39) |
L288P |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,019,570 (GRCm39) |
E394* |
probably null |
Het |
| Or6k2 |
T |
A |
1: 173,979,748 (GRCm39) |
V222D |
probably benign |
Het |
| Pbld2 |
A |
G |
10: 62,874,931 (GRCm39) |
K63E |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,982 (GRCm39) |
M768T |
possibly damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,603,561 (GRCm39) |
C249Y |
probably damaging |
Het |
| Plod1 |
G |
A |
4: 148,000,772 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
A |
T |
9: 92,172,772 (GRCm39) |
T9S |
probably benign |
Het |
| Pnrc1 |
T |
A |
4: 33,246,315 (GRCm39) |
M215L |
probably benign |
Het |
| Prcp |
G |
T |
7: 92,577,841 (GRCm39) |
C370F |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,205 (GRCm39) |
N70S |
probably damaging |
Het |
| Ptprt |
G |
T |
2: 161,395,779 (GRCm39) |
H1131Q |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,239,432 (GRCm39) |
D8G |
possibly damaging |
Het |
| Rcn2 |
A |
C |
9: 55,960,209 (GRCm39) |
K159Q |
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,141,972 (GRCm39) |
C153* |
probably null |
Het |
| Rps6ka2 |
T |
C |
17: 7,437,766 (GRCm39) |
F8S |
possibly damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,383 (GRCm39) |
L626S |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,428 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,793,571 (GRCm39) |
V135D |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,514,682 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,228,255 (GRCm39) |
T1647A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,352,612 (GRCm39) |
A6S |
probably damaging |
Het |
| Tmem33 |
T |
A |
5: 67,425,894 (GRCm39) |
L146* |
probably null |
Het |
| Trip13 |
C |
A |
13: 74,084,378 (GRCm39) |
E36* |
probably null |
Het |
| Vkorc1l1 |
T |
A |
5: 129,971,079 (GRCm39) |
C23S |
probably damaging |
Het |
| Vmn1r20 |
G |
A |
6: 57,409,112 (GRCm39) |
R146H |
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,965 (GRCm39) |
I83F |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,044 (GRCm39) |
I125F |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,736 (GRCm39) |
D216G |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,394,874 (GRCm39) |
T898I |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,510,579 (GRCm39) |
D148G |
possibly damaging |
Het |
| Xylt1 |
T |
C |
7: 117,255,960 (GRCm39) |
I844T |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,353,185 (GRCm39) |
V1535D |
probably damaging |
Het |
| Zfp385b |
A |
T |
2: 77,244,323 (GRCm39) |
L315Q |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,404,870 (GRCm39) |
H523L |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,393 (GRCm39) |
H378R |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,556 (GRCm39) |
Y172C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCTGAGAAAGTTGGTC -3'
(R):5'- GGGTCTCATTCATCTCTAGGC -3'
Sequencing Primer
(F):5'- AGAAAGTTGGTCTGGGATCCATG -3'
(R):5'- ATCTCTAGGCTACTGCTGCAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation