Incidental Mutation 'R7638:Itga10'
| ID |
628238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
045696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R7638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 96564707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029744
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
| 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 null
Transcript: ENSMUST00000119365
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
G |
2: 26,733,855 (GRCm39) |
T115P |
probably damaging |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Amdhd1 |
A |
T |
10: 93,370,360 (GRCm39) |
Y159* |
probably null |
Het |
| Camp |
T |
C |
9: 109,677,461 (GRCm39) |
E124G |
|
Het |
| Casq2 |
A |
G |
3: 101,994,016 (GRCm39) |
E21G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,198,357 (GRCm39) |
F116Y |
probably damaging |
Het |
| Cklf |
A |
T |
8: 104,989,996 (GRCm39) |
K143* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,457,723 (GRCm39) |
I387T |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,654,174 (GRCm39) |
D130V |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,184,670 (GRCm39) |
M317K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,365,078 (GRCm39) |
I138K |
unknown |
Het |
| Eapp |
A |
G |
12: 54,720,508 (GRCm39) |
S236P |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,927,625 (GRCm39) |
M4798K |
probably benign |
Het |
| Efnb3 |
T |
C |
11: 69,448,046 (GRCm39) |
H132R |
possibly damaging |
Het |
| Fam243 |
A |
G |
16: 92,117,805 (GRCm39) |
V161A |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,208 (GRCm39) |
N596K |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,279,484 (GRCm39) |
W134R |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,603,157 (GRCm39) |
S180P |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,353,694 (GRCm39) |
T911A |
probably benign |
Het |
| Gstm1 |
C |
T |
3: 107,921,866 (GRCm39) |
|
probably null |
Het |
| Heg1 |
A |
G |
16: 33,547,867 (GRCm39) |
T909A |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,186 (GRCm39) |
S2455P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,870,273 (GRCm39) |
R4349W |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,019,595 (GRCm39) |
M2122R |
possibly damaging |
Het |
| Kbtbd13 |
G |
T |
9: 65,298,605 (GRCm39) |
C110* |
probably null |
Het |
| Krt78 |
T |
C |
15: 101,859,318 (GRCm39) |
E293G |
probably damaging |
Het |
| Lgals3bp |
C |
T |
11: 118,288,995 (GRCm39) |
V110M |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,307,352 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lrrc71 |
C |
A |
3: 87,649,113 (GRCm39) |
G352W |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,771,506 (GRCm39) |
V694A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,989,325 (GRCm39) |
S162P |
probably damaging |
Het |
| Megf11 |
C |
A |
9: 64,586,535 (GRCm39) |
N422K |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,982,324 (GRCm39) |
S584N |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,524,141 (GRCm39) |
Y403H |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,167,583 (GRCm39) |
A204V |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,107,572 (GRCm39) |
Y262F |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,598,794 (GRCm39) |
S43F |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,115,734 (GRCm39) |
T1022A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,638,991 (GRCm39) |
V874A |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,460,141 (GRCm39) |
T2226A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,190,792 (GRCm39) |
H302R |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,600,003 (GRCm39) |
Y389C |
probably damaging |
Het |
| Or52p2 |
A |
G |
7: 102,237,125 (GRCm39) |
I275T |
probably damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,189 (GRCm39) |
F85V |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,057,880 (GRCm39) |
D599G |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,365 (GRCm39) |
Q147P |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,465,675 (GRCm39) |
C182G |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,762 (GRCm39) |
D136G |
possibly damaging |
Het |
| Polr1h |
A |
C |
17: 37,268,722 (GRCm39) |
|
probably null |
Het |
| Pramel5 |
T |
C |
4: 143,998,010 (GRCm39) |
E411G |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,028 (GRCm39) |
V3A |
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,551,461 (GRCm39) |
N546S |
probably benign |
Het |
| Qrich2 |
C |
T |
11: 116,346,148 (GRCm39) |
V1559I |
probably benign |
Het |
| Rbm20 |
A |
C |
19: 53,802,764 (GRCm39) |
D424A |
possibly damaging |
Het |
| Rbm26 |
C |
T |
14: 105,388,284 (GRCm39) |
D393N |
probably damaging |
Het |
| Sf3b3 |
G |
A |
8: 111,547,445 (GRCm39) |
R728C |
probably damaging |
Het |
| Spata31e1 |
G |
T |
13: 49,940,451 (GRCm39) |
Q420K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,920 (GRCm39) |
N1090S |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,875 (GRCm39) |
S160T |
probably benign |
Het |
| Tcstv6 |
A |
T |
13: 120,304,224 (GRCm39) |
|
probably null |
Het |
| Tfap2e |
C |
T |
4: 126,615,727 (GRCm39) |
V236M |
probably damaging |
Het |
| Thsd4 |
G |
A |
9: 60,301,755 (GRCm39) |
T180M |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,443 (GRCm39) |
M412K |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,079,883 (GRCm39) |
H136L |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,044 (GRCm39) |
I110N |
probably benign |
Het |
| Trav13d-3 |
A |
G |
14: 53,270,870 (GRCm39) |
M111V |
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,147,900 (GRCm39) |
S278C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,299 (GRCm39) |
F364Y |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,706 (GRCm39) |
S334P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,852,791 (GRCm39) |
D2357G |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,172 (GRCm39) |
Y125H |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,819 (GRCm39) |
M117K |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,658 (GRCm39) |
N419I |
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 |
|
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 |
|
|
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 |
|
|
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'- AGCATCTTGTTGTCAGGTCC -3'
(R):5'- TCAGCCTCTCCAATCCATGAG -3'
Sequencing Primer
(F):5'- TCAGGTCCTGGGCATTAGAAC -3'
(R):5'- CCAATCCATGAGAGACTCTTCTG -3'
|
| Posted On |
2020-02-13 |
Incidental Mutation