Incidental Mutation 'R6114:Itga10'
ID 484999
Institutional Source Beutler Lab
Gene Symbol Itga10
Ensembl Gene ENSMUSG00000090210
Gene Name integrin, alpha 10
Synonyms
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96552900-96571835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 96556351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 162 (C162F)
Ref Sequence ENSEMBL: ENSMUSP00000112393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029744] [ENSMUST00000048766] [ENSMUST00000118557] [ENSMUST00000119365] [ENSMUST00000137564] [ENSMUST00000165842]
AlphaFold E9Q6R1
Predicted Effect probably damaging
Transcript: ENSMUST00000029744
AA Change: C162F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: C162F

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 benign
Transcript: ENSMUST00000048766
SMART Domains Protein: ENSMUSP00000037962
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 1.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118557
SMART Domains Protein: ENSMUSP00000113365
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 1 251 8.3e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119365
AA Change: C162F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: C162F

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144962
Predicted Effect probably benign
Transcript: ENSMUST00000165842
SMART Domains Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 3 237 8.9e-69 PFAM
Meta Mutation Damage Score 0.4248 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N probably damaging 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 96,561,039 (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
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'- GTTCCATAGCACAGGGTAGTG -3'
(R):5'- CAAGGGTCCAGGAGTGTTTAC -3'

Sequencing Primer
(F):5'- ACAGGGTAGTGGTAGGCCTCTC -3'
(R):5'- GAGTGTTTACTTCTTTCCCTCCAATC -3'
Posted On 2017-08-16