Incidental Mutation 'R2146:Itga10'
ID 233809
Institutional Source Beutler Lab
Gene Symbol Itga10
Ensembl Gene ENSMUSG00000090210
Gene Name integrin, alpha 10
Synonyms
MMRRC Submission 040149-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2146 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96552900-96571835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96561039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 635 (G635W)
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: G635W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: G635W

DomainStartEndE-ValueType
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: G635W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: G635W

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000127607
Predicted Effect probably benign
Transcript: ENSMUST00000137564
SMART Domains Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447

DomainStartEndE-ValueType
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 0.5927 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (84/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,324,803 (GRCm39) probably null Het
9530002B09Rik T A 4: 122,583,198 (GRCm39) C13* probably null Het
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Adamts18 G C 8: 114,571,635 (GRCm39) A116G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Arhgef5 T C 6: 43,260,252 (GRCm39) S1413P probably damaging Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,575,085 (GRCm39) H535N possibly damaging Het
Ccdc57 A G 11: 120,776,051 (GRCm39) probably benign Het
Cd163 A G 6: 124,286,167 (GRCm39) H239R probably damaging Het
Ceacam2 G T 7: 25,227,368 (GRCm39) C166* probably null Het
Ces5a T A 8: 94,261,327 (GRCm39) E33D probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Chsy3 G A 18: 59,309,544 (GRCm39) V266I probably benign Het
Cpa5 G T 6: 30,626,821 (GRCm39) R251L probably damaging Het
Cps1 A C 1: 67,191,538 (GRCm39) probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cstf1 T C 2: 172,217,683 (GRCm39) Y99H probably damaging Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 C T 15: 73,395,345 (GRCm39) T146M probably damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dnajc22 T C 15: 99,002,264 (GRCm39) V303A probably benign Het
Dtx2 T G 5: 136,059,464 (GRCm39) L458R probably benign Het
Fat3 A T 9: 15,901,808 (GRCm39) F3072L probably benign Het
Fgf5 T C 5: 98,423,409 (GRCm39) *265R probably null Het
Fndc11 A G 2: 180,863,918 (GRCm39) E241G probably damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gm4922 T G 10: 18,659,264 (GRCm39) Q486P probably benign Het
Gm5786 A T 12: 59,128,084 (GRCm39) noncoding transcript Het
Hepacam2 A T 6: 3,463,378 (GRCm39) probably benign Het
Ints9 G A 14: 65,223,792 (GRCm39) G89R possibly damaging Het
Iqcm T A 8: 76,615,241 (GRCm39) W441R probably damaging Het
Kbtbd2 A G 6: 56,756,075 (GRCm39) Y554H probably damaging Het
Kif1b T C 4: 149,268,766 (GRCm39) K1649R probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Marveld3 A T 8: 110,686,434 (GRCm39) V144E probably benign Het
Mcam T C 9: 44,047,932 (GRCm39) V59A probably damaging Het
Mdga2 C T 12: 66,915,515 (GRCm39) E47K probably damaging Het
Metrn T A 17: 26,015,601 (GRCm39) E38V probably damaging Het
Mfrp T C 9: 44,015,015 (GRCm39) L314P probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mideas G T 12: 84,219,809 (GRCm39) P382T probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myh6 C T 14: 55,191,228 (GRCm39) R871H probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or13c7b A G 4: 43,821,178 (GRCm39) F61S probably damaging Het
Or5b111 T C 19: 13,291,485 (GRCm39) T55A probably benign Het
Or8i2 T A 2: 86,852,009 (GRCm39) N293I probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Pdcd11 A G 19: 47,093,191 (GRCm39) M490V probably benign Het
Pkd2 A C 5: 104,603,456 (GRCm39) probably benign Het
Reps1 T A 10: 17,969,061 (GRCm39) D206E probably benign Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Rnf13 T G 3: 57,709,907 (GRCm39) I150S probably null Het
Rxfp4 C T 3: 88,560,200 (GRCm39) A84T probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Sgo2b T G 8: 64,381,057 (GRCm39) T592P probably benign Het
Slc35d1 A T 4: 103,062,349 (GRCm39) I228N probably damaging Het
Slc39a1 T G 3: 90,156,757 (GRCm39) H104Q probably benign Het
Slc6a6 T C 6: 91,712,161 (GRCm39) V230A probably benign Het
Slc9a3 A G 13: 74,269,722 (GRCm39) E30G probably benign Het
Slc9c1 A G 16: 45,413,827 (GRCm39) Y985C probably benign Het
Supt6 A G 11: 78,121,758 (GRCm39) F298S probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Thoc2l T C 5: 104,666,857 (GRCm39) F460L probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tnpo3 A G 6: 29,589,035 (GRCm39) V105A probably benign Het
Ttc7 T C 17: 87,654,135 (GRCm39) probably benign Het
Ttn T C 2: 76,727,532 (GRCm39) probably benign Het
Usp16 T C 16: 87,270,075 (GRCm39) probably null Het
Usp36 A G 11: 118,159,491 (GRCm39) L486S probably benign Het
Uty T C Y: 1,239,816 (GRCm39) I72V probably benign Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Zfp160 A G 17: 21,247,244 (GRCm39) K598R probably benign Het
Zfp39 T C 11: 58,781,158 (GRCm39) N535D probably benign Het
Zfp804a A G 2: 82,089,008 (GRCm39) T946A probably benign Het
Other mutations in Itga10
AlleleSourceChrCoordTypePredicted EffectPPH 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 96,558,808 (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'- CCGAGATAGGCAAAACTTTCTTCC -3'
(R):5'- ACCCAGATCTGTGACCTTTG -3'

Sequencing Primer
(F):5'- CTGGGAATTGAACTCAAGACCTCTG -3'
(R):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
Posted On 2014-10-01