Incidental Mutation 'R4633:Itga10'
| ID |
349330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
041898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R4633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96555020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 118
(D118G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000048766]
[ENSMUST00000118557]
[ENSMUST00000119365]
[ENSMUST00000137564]
[ENSMUST00000165842]
[ENSMUST00000156015]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029744
AA Change: D118G
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: D118G
| 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: ENSMUST00000048766
|
| SMART Domains |
Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
1 |
251 |
1.9e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118557
|
| SMART Domains |
Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
1 |
251 |
8.3e-77 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119365
AA Change: D118G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: D118G
| 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 |
unknown
Transcript: ENSMUST00000137564
AA Change: D303G
|
| SMART Domains |
Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
AA Change: D303G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147821
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165842
|
| SMART Domains |
Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
3 |
237 |
8.9e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156015
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
95% (73/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,503 (GRCm39) |
L786Q |
probably null |
Het |
| Abcb6 |
A |
T |
1: 75,154,426 (GRCm39) |
|
probably benign |
Het |
| Alg10b |
T |
C |
15: 90,112,497 (GRCm39) |
V447A |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| B4galt7 |
A |
G |
13: 55,756,563 (GRCm39) |
H203R |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,683,392 (GRCm39) |
D214A |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,014 (GRCm39) |
D275G |
probably benign |
Het |
| Cnot11 |
G |
T |
1: 39,575,299 (GRCm39) |
W127L |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,052,620 (GRCm39) |
I2168T |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,031,248 (GRCm39) |
F137S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,209,515 (GRCm39) |
L1234Q |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,323,814 (GRCm39) |
I676N |
possibly damaging |
Het |
| Erlin1 |
G |
A |
19: 44,029,204 (GRCm39) |
R243C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,076,990 (GRCm39) |
L576P |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Glg1 |
C |
T |
8: 111,904,276 (GRCm39) |
|
probably null |
Het |
| Gpr139 |
A |
T |
7: 118,743,628 (GRCm39) |
I319N |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,487,279 (GRCm39) |
H3425N |
probably benign |
Het |
| Klra13-ps |
T |
G |
6: 130,268,136 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,042 (GRCm39) |
D225V |
probably damaging |
Het |
| Krtap4-9 |
G |
T |
11: 99,676,380 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,105,579 (GRCm39) |
A2029E |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,761 (GRCm39) |
T3473S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,957 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,036,424 (GRCm39) |
R910* |
probably null |
Het |
| Map1b |
C |
T |
13: 99,571,450 (GRCm39) |
V424M |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,197,737 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,335 (GRCm39) |
S369P |
probably benign |
Het |
| Myom3 |
T |
G |
4: 135,503,010 (GRCm39) |
F362L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,699,684 (GRCm39) |
|
probably benign |
Het |
| Or10s1 |
T |
A |
9: 39,985,630 (GRCm39) |
V13E |
probably damaging |
Het |
| Or1p1 |
T |
G |
11: 74,180,120 (GRCm39) |
M216R |
probably benign |
Het |
| Or2l13b |
C |
T |
16: 19,349,034 (GRCm39) |
G212D |
possibly damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,398 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,885,048 (GRCm39) |
L1376F |
unknown |
Het |
| Phykpl |
C |
A |
11: 51,484,435 (GRCm39) |
A208E |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,886,887 (GRCm39) |
F126S |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,868,904 (GRCm39) |
M479R |
probably damaging |
Het |
| Prpf4b |
A |
G |
13: 35,084,425 (GRCm39) |
T938A |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,870,369 (GRCm39) |
M63T |
probably damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,558,918 (GRCm39) |
S174P |
probably benign |
Het |
| Rcc1 |
G |
T |
4: 132,063,080 (GRCm39) |
S162R |
probably damaging |
Het |
| Rev3l |
T |
G |
10: 39,722,182 (GRCm39) |
L2520R |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,085,443 (GRCm39) |
|
probably null |
Het |
| Rps19 |
G |
T |
7: 24,588,595 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,622 (GRCm39) |
R116* |
probably null |
Het |
| Slc16a11 |
T |
C |
11: 70,107,205 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 34,959,074 (GRCm39) |
V296A |
probably damaging |
Het |
| Taar8b |
C |
A |
10: 23,968,150 (GRCm39) |
E15* |
probably null |
Het |
| Tas2r102 |
T |
A |
6: 132,739,642 (GRCm39) |
N183K |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,191,310 (GRCm39) |
E1041D |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,660 (GRCm39) |
V244A |
probably damaging |
Het |
| Trgc4 |
G |
T |
13: 19,536,457 (GRCm39) |
V172F |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,933,371 (GRCm39) |
I650K |
probably damaging |
Het |
| Trim59 |
G |
T |
3: 68,944,747 (GRCm39) |
Q198K |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,371,867 (GRCm39) |
T772I |
probably damaging |
Het |
| Tvp23a |
C |
T |
16: 10,244,909 (GRCm39) |
V146M |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,428 (GRCm39) |
D11V |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,362,211 (GRCm39) |
K32R |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,151,202 (GRCm39) |
K801E |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,588,814 (GRCm39) |
I2452V |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,123,757 (GRCm39) |
L228P |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,987,024 (GRCm39) |
T158A |
probably benign |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp872 |
G |
T |
9: 22,108,490 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,768,891 (GRCm39) |
E1110G |
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 |
|
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'- TAACTCTGACCCCTTGGACC -3'
(R):5'- AATTTCCCTTACCACGGTGC -3'
Sequencing Primer
(F):5'- TGGACCTTGTCAATGACCCTGAAC -3'
(R):5'- CAAAACAGGGTTTCTCTGCATAGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation