Incidental Mutation 'R1667:Itga10'
| ID |
187266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
039703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R1667 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 96559054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029744
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
99% (76/77) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,425,564 (GRCm39) |
A26T |
possibly damaging |
Het |
| Adgrg3 |
T |
A |
8: 95,760,001 (GRCm39) |
Y73* |
probably null |
Het |
| Alk |
A |
T |
17: 72,218,562 (GRCm39) |
V761E |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,924,794 (GRCm39) |
V93A |
possibly damaging |
Het |
| Anks1b |
T |
C |
10: 90,347,046 (GRCm39) |
|
probably null |
Het |
| Arb2a |
T |
A |
13: 77,907,635 (GRCm39) |
M1K |
probably null |
Het |
| Ascl1 |
T |
C |
10: 87,328,655 (GRCm39) |
N99S |
probably benign |
Het |
| Atm |
A |
T |
9: 53,412,232 (GRCm39) |
L972Q |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,309,996 (GRCm39) |
L566Q |
probably null |
Het |
| Bank1 |
T |
A |
3: 135,799,057 (GRCm39) |
Y629F |
probably damaging |
Het |
| Bod1l |
G |
T |
5: 41,974,118 (GRCm39) |
L2399I |
probably benign |
Het |
| Bub1b |
G |
A |
2: 118,471,670 (GRCm39) |
G1010D |
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,783,532 (GRCm39) |
H563Y |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,454,225 (GRCm39) |
E853G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,033,261 (GRCm39) |
E779G |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,194,003 (GRCm39) |
S7P |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,632,034 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
G |
T |
9: 109,914,513 (GRCm39) |
L995I |
possibly damaging |
Het |
| Dhx30 |
G |
C |
9: 109,914,514 (GRCm39) |
N957K |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,384,657 (GRCm39) |
D717G |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,769,055 (GRCm39) |
D7G |
probably damaging |
Het |
| E230001N04Rik |
T |
G |
17: 28,742,935 (GRCm39) |
|
noncoding transcript |
Het |
| Ece2 |
T |
C |
16: 20,456,588 (GRCm39) |
S330P |
possibly damaging |
Het |
| Frmd5 |
ATAGTGGAATTGTTCAAACTC |
ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC |
2: 121,379,211 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
C |
2: 9,882,360 (GRCm39) |
H14R |
possibly damaging |
Het |
| Ggta1 |
T |
A |
2: 35,304,295 (GRCm39) |
I75F |
possibly damaging |
Het |
| Hcn1 |
A |
T |
13: 117,739,609 (GRCm39) |
I124F |
unknown |
Het |
| Herpud1 |
A |
C |
8: 95,115,994 (GRCm39) |
D53A |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,201,209 (GRCm39) |
L257Q |
possibly damaging |
Het |
| Jmy |
T |
A |
13: 93,634,878 (GRCm39) |
S313C |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,698,067 (GRCm39) |
|
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,170 (GRCm39) |
E315G |
probably damaging |
Het |
| Lsm14a |
T |
A |
7: 34,065,079 (GRCm39) |
T167S |
possibly damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map3k2 |
T |
C |
18: 32,336,845 (GRCm39) |
|
probably benign |
Het |
| Mapk12 |
A |
T |
15: 89,024,344 (GRCm39) |
M81K |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,378,878 (GRCm39) |
C305S |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,653,978 (GRCm39) |
Y844H |
possibly damaging |
Het |
| Mgat5b |
A |
G |
11: 116,838,203 (GRCm39) |
R281G |
probably benign |
Het |
| Mon1b |
T |
G |
8: 114,368,589 (GRCm39) |
C497G |
probably damaging |
Het |
| Mybbp1a |
A |
T |
11: 72,336,043 (GRCm39) |
H452L |
probably benign |
Het |
| Mybl2 |
A |
G |
2: 162,917,616 (GRCm39) |
T41A |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,843,623 (GRCm39) |
V540A |
probably damaging |
Het |
| Nup93 |
T |
A |
8: 95,019,315 (GRCm39) |
V47E |
possibly damaging |
Het |
| Or10a4 |
A |
T |
7: 106,696,977 (GRCm39) |
M102L |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,129,080 (GRCm39) |
M307V |
probably null |
Het |
| Orc6 |
T |
A |
8: 86,031,914 (GRCm39) |
C100S |
possibly damaging |
Het |
| Otogl |
G |
T |
10: 107,649,826 (GRCm39) |
Y1176* |
probably null |
Het |
| Patj |
A |
T |
4: 98,301,264 (GRCm39) |
D183V |
probably damaging |
Het |
| Pik3r3 |
A |
G |
4: 116,079,514 (GRCm39) |
T4A |
probably damaging |
Het |
| Pla2g4d |
G |
A |
2: 120,100,631 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
G |
2: 60,250,601 (GRCm39) |
I1407T |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,606 (GRCm39) |
C320* |
probably null |
Het |
| Prex2 |
A |
T |
1: 11,256,981 (GRCm39) |
H1231L |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,772 (GRCm39) |
V390A |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,856,253 (GRCm39) |
N37K |
probably damaging |
Het |
| Rnf207 |
C |
T |
4: 152,397,672 (GRCm39) |
E361K |
probably benign |
Het |
| Serpina3f |
T |
A |
12: 104,183,699 (GRCm39) |
L187Q |
probably damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,978 (GRCm39) |
T109S |
probably damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,962,306 (GRCm39) |
S443P |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,659,147 (GRCm39) |
F197Y |
probably benign |
Het |
| Sox2 |
T |
C |
3: 34,704,568 (GRCm39) |
Y2H |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,387,193 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,853,874 (GRCm39) |
N149D |
probably benign |
Het |
| Trim60 |
A |
C |
8: 65,454,116 (GRCm39) |
D44E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,657 (GRCm39) |
Y272C |
probably damaging |
Het |
| Vmn1r4 |
T |
A |
6: 56,933,738 (GRCm39) |
Y81N |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,889 (GRCm39) |
C808S |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp672 |
T |
C |
11: 58,206,921 (GRCm39) |
T467A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,407 (GRCm39) |
Q425L |
possibly 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 |
|
|
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 |
96,565,006 (GRCm39) |
missense |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
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 |
|
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'- TTGGATAGACCCTGACCCTCTCAAC -3'
(R):5'- GGTTTCCTGAAGGCATAAGGCGAG -3'
Sequencing Primer
(F):5'- ATAAGCCCCCTACTTCTAATTCAG -3'
(R):5'- CTAAGGGGGAGTGCCTCATAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation