Incidental Mutation 'R1686:Itga10'
| ID |
189322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
039719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R1686 (G1)
|
| Quality Score |
174 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96559141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 410
(F410Y)
|
| 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: F410Y
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: F410Y
| 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: F410Y
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: F410Y
| 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 |
0.2053 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (85/85) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
| Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
| Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
| Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
| Aup1 |
A |
T |
6: 83,032,226 (GRCm39) |
H131L |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
| Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
| Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
| Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
| Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
| Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
| Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
| Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
| Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
| Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
| Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
| Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
| Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
| Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
| Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
| Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
| Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
| Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
| Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
| Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
| Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
| Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
| Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
| Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,546,168 (GRCm39) |
|
probably benign |
Het |
| Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
| Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
| Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
C |
17: 52,047,027 (GRCm39) |
S763G |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
| Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
| Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
| Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
| Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,667,789 (GRCm39) |
Y770* |
probably null |
Het |
| Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
| Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,516,566 (GRCm39) |
D327V |
probably damaging |
Het |
| Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
probably null |
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 |
|
|
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'- GACCACAGTGTACCTGTATGTGAG -3'
(R):5'- GCCTAAAGAGATTTAAGGAGCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation