Incidental Mutation 'R0308:Itga10'
ID |
24952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
MMRRC Submission |
038518-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R0308 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96558780 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 373
(S373P)
|
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: S373P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210 AA Change: S373P
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: S373P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210 AA Change: S373P
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 |
0.6458 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.5%
|
Validation Efficiency |
100% (82/82) |
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 |
1700009N14Rik |
A |
T |
4: 39,450,989 (GRCm39) |
D65V |
probably damaging |
Het |
4933407L21Rik |
A |
T |
1: 85,859,007 (GRCm39) |
|
probably benign |
Het |
Abcc12 |
C |
T |
8: 87,284,381 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,311,646 (GRCm39) |
E1301G |
probably damaging |
Het |
Adh4 |
A |
T |
3: 138,129,863 (GRCm39) |
N230Y |
probably damaging |
Het |
Anapc15-ps |
T |
A |
10: 95,508,954 (GRCm39) |
M109L |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,141 (GRCm39) |
I472V |
possibly damaging |
Het |
Arhgef26 |
C |
A |
3: 62,247,820 (GRCm39) |
D301E |
probably benign |
Het |
Armc10 |
G |
A |
5: 21,852,295 (GRCm39) |
|
probably benign |
Het |
Atm |
T |
C |
9: 53,365,773 (GRCm39) |
|
probably null |
Het |
Atp5f1b |
T |
C |
10: 127,921,908 (GRCm39) |
V265A |
probably benign |
Het |
Atp8b1 |
G |
T |
18: 64,678,315 (GRCm39) |
C860* |
probably null |
Het |
Atrnl1 |
T |
G |
19: 57,741,720 (GRCm39) |
S1160A |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,890,743 (GRCm39) |
I179F |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,048,659 (GRCm39) |
E105G |
possibly damaging |
Het |
Cfap54 |
C |
A |
10: 92,721,226 (GRCm39) |
D2502Y |
unknown |
Het |
Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,759,786 (GRCm39) |
D282G |
possibly damaging |
Het |
Csrp1 |
C |
A |
1: 135,673,024 (GRCm39) |
T47N |
probably damaging |
Het |
Cyp2c40 |
T |
A |
19: 39,766,432 (GRCm39) |
I388F |
probably damaging |
Het |
Dars1 |
C |
T |
1: 128,291,996 (GRCm39) |
R494H |
probably damaging |
Het |
Dna2 |
T |
C |
10: 62,792,753 (GRCm39) |
V256A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,873,051 (GRCm39) |
T1132A |
probably benign |
Het |
Dpcd |
T |
G |
19: 45,565,445 (GRCm39) |
F140V |
probably damaging |
Het |
Elk3 |
A |
T |
10: 93,101,067 (GRCm39) |
M228K |
probably benign |
Het |
Erich6 |
A |
G |
3: 58,543,525 (GRCm39) |
F182L |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,712,904 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,198,947 (GRCm39) |
|
probably benign |
Het |
Fzd9 |
A |
T |
5: 135,278,260 (GRCm39) |
C542S |
probably damaging |
Het |
Gba1 |
A |
G |
3: 89,115,671 (GRCm39) |
T460A |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,769,792 (GRCm39) |
A587T |
probably benign |
Het |
Gm11011 |
C |
T |
2: 169,424,614 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
G |
9: 107,927,033 (GRCm39) |
E68G |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,146,818 (GRCm39) |
N260S |
possibly damaging |
Het |
Hipk3 |
G |
A |
2: 104,263,552 (GRCm39) |
S900L |
probably damaging |
Het |
Idi2l |
T |
G |
13: 8,990,877 (GRCm39) |
|
probably benign |
Het |
Ints6l |
A |
T |
X: 55,526,715 (GRCm39) |
M215L |
possibly damaging |
Het |
Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
Jak1 |
T |
C |
4: 101,011,732 (GRCm39) |
|
probably null |
Het |
Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
Katnal1 |
A |
T |
5: 148,815,734 (GRCm39) |
V401D |
possibly damaging |
Het |
Krbox5 |
A |
G |
13: 67,991,232 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,313,326 (GRCm39) |
|
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,710,738 (GRCm39) |
H7R |
probably benign |
Het |
Mrgprx3-ps |
A |
G |
7: 46,959,766 (GRCm39) |
V75A |
probably benign |
Het |
Nol6 |
C |
T |
4: 41,123,584 (GRCm39) |
A55T |
probably benign |
Het |
Opa1 |
G |
A |
16: 29,440,349 (GRCm39) |
R818Q |
probably damaging |
Het |
Opn4 |
T |
C |
14: 34,319,081 (GRCm39) |
Y168C |
possibly damaging |
Het |
Or8b35 |
A |
G |
9: 37,904,141 (GRCm39) |
I118V |
probably benign |
Het |
Phf21a |
T |
C |
2: 92,161,122 (GRCm39) |
V330A |
possibly damaging |
Het |
Phykpl |
A |
G |
11: 51,484,423 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
G |
2: 134,655,534 (GRCm39) |
V38G |
probably benign |
Het |
Plxna4 |
T |
A |
6: 32,214,703 (GRCm39) |
T593S |
probably benign |
Het |
Poll |
A |
T |
19: 45,544,404 (GRCm39) |
I339N |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,700,890 (GRCm39) |
I1796V |
probably benign |
Het |
Rnf103 |
G |
A |
6: 71,486,686 (GRCm39) |
R439H |
probably damaging |
Het |
Rrn3 |
G |
A |
16: 13,617,746 (GRCm39) |
|
probably benign |
Het |
Sec14l4 |
G |
A |
11: 3,991,726 (GRCm39) |
|
probably benign |
Het |
Sec23a |
A |
C |
12: 59,053,985 (GRCm39) |
Y4* |
probably null |
Het |
Senp6 |
T |
C |
9: 80,040,265 (GRCm39) |
|
probably null |
Het |
Serpinb6b |
A |
T |
13: 33,162,220 (GRCm39) |
N221Y |
probably benign |
Het |
Slc6a2 |
A |
G |
8: 93,687,988 (GRCm39) |
E38G |
possibly damaging |
Het |
Smap1 |
A |
T |
1: 23,888,423 (GRCm39) |
L196I |
probably damaging |
Het |
Sorbs2 |
C |
T |
8: 46,248,167 (GRCm39) |
Q473* |
probably null |
Het |
Sphkap |
C |
A |
1: 83,254,690 (GRCm39) |
V1020F |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,614 (GRCm39) |
V225A |
probably benign |
Het |
Srprb |
G |
A |
9: 103,079,204 (GRCm39) |
P728S |
possibly damaging |
Het |
Tarm1 |
T |
C |
7: 3,545,187 (GRCm39) |
|
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,139,306 (GRCm39) |
I162N |
probably benign |
Het |
Tmem237 |
C |
A |
1: 59,146,676 (GRCm39) |
A292S |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,983,011 (GRCm39) |
F884L |
probably damaging |
Het |
Trim7 |
A |
G |
11: 48,740,328 (GRCm39) |
T142A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,616,024 (GRCm39) |
I14894F |
probably damaging |
Het |
Tubgcp6 |
T |
C |
15: 89,006,639 (GRCm39) |
R128G |
possibly damaging |
Het |
Ube2d2b |
A |
G |
5: 107,978,774 (GRCm39) |
T142A |
possibly damaging |
Het |
Unc13c |
G |
T |
9: 73,388,400 (GRCm39) |
L2129I |
probably benign |
Het |
Ushbp1 |
T |
C |
8: 71,843,697 (GRCm39) |
D247G |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,770,966 (GRCm39) |
A556V |
probably damaging |
Het |
Zfp438 |
T |
A |
18: 5,213,638 (GRCm39) |
H440L |
probably benign |
Het |
Zfp518b |
C |
T |
5: 38,830,113 (GRCm39) |
E631K |
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 |
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 |
96,565,006 (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'- GACAGACATTGTGGATGCACTGGG -3'
(R):5'- TTCTTCAAGCCATAGCACGGAGCC -3'
Sequencing Primer
(F):5'- CACTGGGGGACCGAATTTTTG -3'
(R):5'- TCACATACAGGTACACTGTGGTC -3'
|
Posted On |
2013-04-16 |