Incidental Mutation 'R6172:Itga10'
| ID |
488231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
044315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6172 (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 96554753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 78
(I78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000048766]
[ENSMUST00000118557]
[ENSMUST00000119365]
[ENSMUST00000137564]
[ENSMUST00000156015]
[ENSMUST00000165842]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029744
AA Change: I78T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: I78T
| 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 |
probably benign
Transcript: ENSMUST00000119365
AA Change: I78T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: I78T
| 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: I263T
|
| SMART Domains |
Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
AA Change: I263T
| 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: ENSMUST00000156015
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
A |
T |
9: 9,148,246 (GRCm39) |
C108S |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
| Bpifb2 |
C |
A |
2: 153,732,332 (GRCm39) |
H310Q |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
| Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
| Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
| Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
| Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
| Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Frk |
T |
C |
10: 34,467,961 (GRCm39) |
L325P |
probably damaging |
Het |
| Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
| Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
| Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
| Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
| Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
| Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
| Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
| Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,486 (GRCm39) |
N51S |
probably damaging |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,298,105 (GRCm39) |
D699G |
probably benign |
Het |
| Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
| Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
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 |
|
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'- CTGGCCTTTGAAAGTGCCTG -3'
(R):5'- CACAGCAGGCTGAGAGGAATTTC -3'
Sequencing Primer
(F):5'- TGGGGCTCCATGACGTCTC -3'
(R):5'- TCCAAGTTGATAGTCACCTGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation