Incidental Mutation 'R6841:Itga10'
ID |
538015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga10
|
Ensembl Gene |
ENSMUSG00000090210 |
Gene Name |
integrin, alpha 10 |
Synonyms |
|
MMRRC Submission |
044947-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R6841 (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 C
at 96564030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 895
(F895L)
|
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: F896L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029744 Gene: ENSMUSG00000090210 AA Change: F896L
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: F895L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112393 Gene: ENSMUSG00000090210 AA Change: F895L
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 |
0.4092 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
99% (71/72) |
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 |
A730071L15Rik |
G |
A |
11: 6,150,439 (GRCm39) |
W137* |
probably null |
Het |
Acads |
G |
A |
5: 115,250,417 (GRCm39) |
T169I |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,570,787 (GRCm39) |
N414Y |
probably damaging |
Het |
Ankrd35 |
T |
A |
3: 96,577,742 (GRCm39) |
S6T |
probably damaging |
Het |
Armc3 |
A |
G |
2: 19,206,630 (GRCm39) |
|
probably null |
Het |
Atp9a |
C |
A |
2: 168,496,140 (GRCm39) |
V555F |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,075,630 (GRCm39) |
Y3610C |
probably damaging |
Het |
Cars2 |
C |
T |
8: 11,566,198 (GRCm39) |
V443I |
probably benign |
Het |
Cblc |
A |
G |
7: 19,526,821 (GRCm39) |
L137P |
probably damaging |
Het |
Ccdc198 |
T |
C |
14: 49,481,270 (GRCm39) |
|
probably null |
Het |
Cdk5r1 |
T |
A |
11: 80,369,021 (GRCm39) |
C229* |
probably null |
Het |
Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,710,877 (GRCm39) |
Y2728C |
unknown |
Het |
Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
Cnot11 |
C |
T |
1: 39,579,148 (GRCm39) |
Q12* |
probably null |
Het |
Commd6 |
A |
T |
14: 101,874,534 (GRCm39) |
D19E |
probably damaging |
Het |
Crygc |
C |
T |
1: 65,112,361 (GRCm39) |
G71D |
possibly damaging |
Het |
Cstf3 |
A |
G |
2: 104,486,076 (GRCm39) |
K439E |
probably benign |
Het |
Cyp11b2 |
G |
T |
15: 74,727,340 (GRCm39) |
H114N |
probably benign |
Het |
Cyp2d40 |
T |
C |
15: 82,645,687 (GRCm39) |
D106G |
probably benign |
Het |
Dhx8 |
T |
A |
11: 101,655,618 (GRCm39) |
V1117E |
probably damaging |
Het |
Duoxa1 |
G |
T |
2: 122,134,462 (GRCm39) |
L219I |
probably damaging |
Het |
Dynap |
A |
T |
18: 70,374,253 (GRCm39) |
I91N |
probably damaging |
Het |
Elfn1 |
G |
T |
5: 139,958,900 (GRCm39) |
G635W |
probably damaging |
Het |
Fan1 |
A |
T |
7: 64,014,377 (GRCm39) |
I618N |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,876,410 (GRCm39) |
D2381G |
probably damaging |
Het |
Fxyd6 |
T |
A |
9: 45,302,851 (GRCm39) |
|
probably null |
Het |
Gpr137b |
A |
T |
13: 13,538,094 (GRCm39) |
W286R |
probably damaging |
Het |
Gpsm3 |
A |
T |
17: 34,809,536 (GRCm39) |
|
probably null |
Het |
Has1 |
C |
T |
17: 18,064,122 (GRCm39) |
V506I |
probably benign |
Het |
Hoxd10 |
T |
A |
2: 74,522,616 (GRCm39) |
V98D |
probably benign |
Het |
Htr2b |
T |
A |
1: 86,027,615 (GRCm39) |
D297V |
probably benign |
Het |
Hydin |
G |
C |
8: 111,265,007 (GRCm39) |
R2730P |
probably benign |
Het |
I830077J02Rik |
T |
C |
3: 105,833,830 (GRCm39) |
N109D |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,922,263 (GRCm39) |
F1284I |
probably damaging |
Het |
Ildr2 |
C |
G |
1: 166,098,144 (GRCm39) |
D167E |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,314,046 (GRCm39) |
D949G |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,365,153 (GRCm39) |
N27S |
probably damaging |
Het |
Klra4 |
C |
A |
6: 130,042,162 (GRCm39) |
R35L |
probably benign |
Het |
Map3k2 |
T |
A |
18: 32,359,682 (GRCm39) |
C512S |
probably benign |
Het |
Mertk |
A |
G |
2: 128,601,150 (GRCm39) |
|
probably null |
Het |
Mgat2 |
T |
A |
12: 69,232,407 (GRCm39) |
I327N |
probably damaging |
Het |
Mogat1 |
T |
C |
1: 78,499,496 (GRCm39) |
I59T |
probably damaging |
Het |
Mrpl2 |
A |
T |
17: 46,958,382 (GRCm39) |
M55L |
probably benign |
Het |
Nxpe3 |
T |
C |
16: 55,664,685 (GRCm39) |
M512V |
possibly damaging |
Het |
Pcdh15 |
T |
C |
10: 74,286,052 (GRCm39) |
L769P |
probably damaging |
Het |
Pcmtd2 |
T |
G |
2: 181,486,231 (GRCm39) |
V117G |
probably damaging |
Het |
Pdia2 |
A |
T |
17: 26,415,578 (GRCm39) |
|
probably null |
Het |
Repin1 |
A |
T |
6: 48,574,859 (GRCm39) |
Q593L |
possibly damaging |
Het |
Rnf213 |
C |
T |
11: 119,340,692 (GRCm39) |
T3517I |
probably benign |
Het |
Rxfp2 |
A |
T |
5: 149,942,210 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
C |
4: 111,785,968 (GRCm39) |
L138P |
probably damaging |
Het |
Slc35a3 |
T |
A |
3: 116,506,417 (GRCm39) |
Q5L |
probably null |
Het |
Stab2 |
T |
A |
10: 86,778,054 (GRCm39) |
N758I |
probably damaging |
Het |
Sulf1 |
T |
A |
1: 12,908,658 (GRCm39) |
I557N |
probably damaging |
Het |
Tbc1d8 |
T |
C |
1: 39,428,455 (GRCm39) |
I497V |
possibly damaging |
Het |
Ticam2 |
A |
C |
18: 46,693,998 (GRCm39) |
S30A |
probably benign |
Het |
Timp3 |
T |
C |
10: 86,181,638 (GRCm39) |
S170P |
possibly damaging |
Het |
Top1mt |
C |
T |
15: 75,547,973 (GRCm39) |
E38K |
probably benign |
Het |
Tpp1 |
G |
A |
7: 105,398,171 (GRCm39) |
L331F |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,654,941 (GRCm39) |
D1332E |
probably benign |
Het |
Ttc23 |
A |
G |
7: 67,319,476 (GRCm39) |
E112G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,715,296 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
A |
2: 76,726,934 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,850,969 (GRCm39) |
C1796S |
probably damaging |
Het |
Ugt2b34 |
C |
T |
5: 87,040,675 (GRCm39) |
V416I |
probably benign |
Het |
Uqcrb |
A |
G |
13: 67,048,827 (GRCm39) |
|
probably benign |
Het |
Vps26b |
A |
G |
9: 26,921,760 (GRCm39) |
L255P |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,223,512 (GRCm39) |
V154A |
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 |
|
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'- CATGGGTTCAGAATGAGGGC -3'
(R):5'- CATCTCTAGGCTACTGCTGCAG -3'
Sequencing Primer
(F):5'- CAAGGTGCTGAGAAAGTTGGTCTG -3'
(R):5'- GGGAGAAAGTTTCACATCCCAGTC -3'
|
Posted On |
2018-10-18 |