Incidental Mutation 'R1665:Itga10'
| ID |
187092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
039701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R1665 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 96559054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably benign
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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
100% (87/87) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,596,816 (GRCm39) |
G423E |
probably damaging |
Het |
| Acox3 |
A |
T |
5: 35,760,371 (GRCm39) |
H429L |
probably damaging |
Het |
| Afg1l |
T |
A |
10: 42,302,573 (GRCm39) |
K142N |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,825 (GRCm39) |
I18V |
probably benign |
Het |
| Angel2 |
T |
C |
1: 190,669,664 (GRCm39) |
Y115H |
probably damaging |
Het |
| Bsg |
T |
G |
10: 79,547,352 (GRCm39) |
N261K |
probably damaging |
Het |
| C2cd2l |
A |
T |
9: 44,228,072 (GRCm39) |
V83E |
probably benign |
Het |
| Caml |
C |
A |
13: 55,779,784 (GRCm39) |
L286I |
probably benign |
Het |
| Ccdc125 |
A |
G |
13: 100,830,081 (GRCm39) |
I284V |
probably benign |
Het |
| Ces2a |
G |
A |
8: 105,464,187 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
| Creg2 |
C |
T |
1: 39,662,372 (GRCm39) |
W253* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,560,185 (GRCm39) |
T2293A |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,434,982 (GRCm39) |
I292K |
probably benign |
Het |
| Dab2ip |
T |
A |
2: 35,610,290 (GRCm39) |
M770K |
probably damaging |
Het |
| Dct |
T |
A |
14: 118,271,663 (GRCm39) |
D389V |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,012,321 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,101,761 (GRCm39) |
E1921G |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,611,940 (GRCm39) |
K594R |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,767,476 (GRCm39) |
S272P |
probably damaging |
Het |
| Ero1b |
T |
C |
13: 12,594,142 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
G |
3: 79,422,456 (GRCm39) |
F108S |
probably benign |
Het |
| Foxb1 |
G |
A |
9: 69,667,104 (GRCm39) |
A142V |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,746,768 (GRCm39) |
S613C |
probably damaging |
Het |
| Gm7276 |
C |
A |
18: 77,273,266 (GRCm39) |
|
probably benign |
Het |
| Gnb4 |
A |
C |
3: 32,644,188 (GRCm39) |
L152* |
probably null |
Het |
| H1f7 |
G |
T |
15: 98,154,796 (GRCm39) |
Q118K |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,704,406 (GRCm39) |
L119P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,282 (GRCm39) |
E274K |
probably benign |
Het |
| Htr4 |
T |
C |
18: 62,545,305 (GRCm39) |
I30T |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,577,973 (GRCm39) |
Y512F |
probably damaging |
Het |
| Klhl22 |
C |
A |
16: 17,594,352 (GRCm39) |
D160E |
probably benign |
Het |
| Kpna6 |
T |
A |
4: 129,551,264 (GRCm39) |
R80S |
probably benign |
Het |
| Lclat1 |
A |
G |
17: 73,494,999 (GRCm39) |
E142G |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,833,570 (GRCm39) |
Y349H |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,568,437 (GRCm39) |
N1428I |
unknown |
Het |
| Map3k19 |
T |
A |
1: 127,745,393 (GRCm39) |
T1354S |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,887,813 (GRCm39) |
W1696R |
probably damaging |
Het |
| Mfn1 |
T |
G |
3: 32,588,471 (GRCm39) |
V66G |
probably benign |
Het |
| Mllt10 |
A |
T |
2: 18,213,601 (GRCm39) |
Q459L |
possibly damaging |
Het |
| Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
| Muc15 |
C |
T |
2: 110,564,243 (GRCm39) |
Q260* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,718 (GRCm39) |
H616R |
probably damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,024,045 (GRCm39) |
W417R |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,481 (GRCm39) |
S149P |
probably damaging |
Het |
| Or13a26 |
G |
T |
7: 140,284,707 (GRCm39) |
C181F |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,116 (GRCm39) |
C189R |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,098 (GRCm39) |
Y113H |
probably damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,202 (GRCm39) |
H99L |
probably damaging |
Het |
| Or8c10 |
C |
T |
9: 38,278,862 (GRCm39) |
H7Y |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,117,702 (GRCm39) |
D26G |
probably damaging |
Het |
| Pi15 |
G |
T |
1: 17,691,726 (GRCm39) |
C176F |
probably damaging |
Het |
| Pou2f2 |
T |
A |
7: 24,792,149 (GRCm39) |
T569S |
possibly damaging |
Het |
| Prf1 |
A |
C |
10: 61,138,666 (GRCm39) |
E208A |
probably benign |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Rc3h1 |
T |
A |
1: 160,786,993 (GRCm39) |
V796E |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,409,326 (GRCm39) |
Y503C |
probably damaging |
Het |
| Ripk3 |
T |
A |
14: 56,023,808 (GRCm39) |
H1L |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,735,503 (GRCm39) |
D4064N |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,674,724 (GRCm39) |
|
probably null |
Het |
| Slco1a4 |
T |
G |
6: 141,785,303 (GRCm39) |
M96L |
possibly damaging |
Het |
| Slit3 |
A |
T |
11: 35,125,733 (GRCm39) |
R137S |
possibly damaging |
Het |
| Smad1 |
T |
C |
8: 80,098,658 (GRCm39) |
E52G |
probably damaging |
Het |
| Srd5a2 |
A |
T |
17: 74,328,476 (GRCm39) |
W201R |
probably damaging |
Het |
| Steap1 |
A |
T |
5: 5,786,498 (GRCm39) |
L313Q |
probably damaging |
Het |
| Syt2 |
C |
A |
1: 134,675,358 (GRCm39) |
A403D |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,713,897 (GRCm39) |
S225R |
probably benign |
Het |
| Thap3 |
C |
T |
4: 152,070,161 (GRCm39) |
V78M |
probably damaging |
Het |
| Thoc5 |
A |
G |
11: 4,869,792 (GRCm39) |
K446R |
probably benign |
Het |
| Timmdc1 |
A |
C |
16: 38,331,079 (GRCm39) |
|
probably null |
Het |
| Tm6sf2 |
G |
T |
8: 70,531,580 (GRCm39) |
|
probably benign |
Het |
| Tmem126b |
G |
T |
7: 90,125,179 (GRCm39) |
A2E |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,301,887 (GRCm39) |
R584W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,661,200 (GRCm39) |
|
probably benign |
Het |
| Vmn1r25 |
A |
T |
6: 57,955,446 (GRCm39) |
I281N |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,205,994 (GRCm39) |
F553S |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,163,505 (GRCm39) |
M575V |
unknown |
Het |
| Zfp53 |
A |
G |
17: 21,729,766 (GRCm39) |
T600A |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,696,939 (GRCm39) |
S559P |
unknown |
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 |
|
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 |
96,565,006 (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'- ATAAGCCCCCTACTTCTAATTCAG -3'
(R):5'- CTAAGGGGGAGTGCCTCATAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation