Incidental Mutation 'IGL01473:Itga10'
ID 88336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga10
Ensembl Gene ENSMUSG00000090210
Gene Name integrin, alpha 10
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL01473
Quality Score
Status
Chromosome 3
Chromosomal Location 96552900-96571835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96554957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 97 (G97E)
Ref Sequence ENSEMBL: ENSMUSP00000112393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029744] [ENSMUST00000048766] [ENSMUST00000118557] [ENSMUST00000119365] [ENSMUST00000137564] [ENSMUST00000156015] [ENSMUST00000165842]
AlphaFold E9Q6R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000029744
AA Change: G97E

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: G97E

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: G97E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: G97E

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 unknown
Transcript: ENSMUST00000137564
AA Change: G282E
SMART Domains Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
AA Change: G282E

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 noncoding transcript
Transcript: ENSMUST00000147821
Predicted Effect probably benign
Transcript: ENSMUST00000156015
Predicted Effect probably benign
Transcript: ENSMUST00000165842
SMART Domains Protein: ENSMUSP00000126631
Gene: ENSMUSG00000028102

DomainStartEndE-ValueType
Pfam:PEX11 3 237 8.9e-69 PFAM
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,135,542 (GRCm39) Y350C probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Clcn1 C A 6: 42,268,637 (GRCm39) A181D probably damaging Het
Cylc1 G T X: 110,166,449 (GRCm39) K243N unknown Het
Dsp A G 13: 38,351,547 (GRCm39) Y122C probably damaging Het
Exoc5 A G 14: 49,251,751 (GRCm39) V665A possibly damaging Het
Fcho1 G A 8: 72,164,782 (GRCm39) P500S probably benign Het
Flg2 A G 3: 93,110,327 (GRCm39) E785G unknown Het
Fpr1 A G 17: 18,097,954 (GRCm39) S12P possibly damaging Het
Hydin G T 8: 111,081,585 (GRCm39) G327V probably damaging Het
Hydin A T 8: 111,038,792 (GRCm39) M177L probably benign Het
Khdc1c T A 1: 21,439,130 (GRCm39) Y39N possibly damaging Het
Lrp1b T G 2: 40,501,498 (GRCm39) T202P probably damaging Het
Marchf10 T C 11: 105,280,431 (GRCm39) K618R probably damaging Het
Mdc1 C A 17: 36,158,912 (GRCm39) L431I probably benign Het
Mmp17 A G 5: 129,683,472 (GRCm39) D536G probably benign Het
Myh8 G A 11: 67,192,651 (GRCm39) probably null Het
Odad3 C A 9: 21,906,675 (GRCm39) probably null Het
Pop4 A G 7: 37,963,820 (GRCm39) V154A probably benign Het
Ppp1r13l C T 7: 19,109,193 (GRCm39) R608C probably damaging Het
Prss36 T C 7: 127,543,873 (GRCm39) H166R probably damaging Het
Rab11fip3 C T 17: 26,287,709 (GRCm39) R148Q possibly damaging Het
Rbm39 T A 2: 156,014,899 (GRCm39) R49* probably null Het
S100a11 T C 3: 93,433,413 (GRCm39) C86R probably damaging Het
Skint7 T C 4: 111,839,402 (GRCm39) I232T probably damaging Het
Smchd1 G A 17: 71,696,745 (GRCm39) T1210I probably benign Het
Speg C T 1: 75,404,929 (GRCm39) T2907I possibly damaging Het
Spz1 A T 13: 92,711,764 (GRCm39) C237* probably null Het
Sun3 G T 11: 8,979,394 (GRCm39) D42E probably benign Het
Tgds C T 14: 118,365,626 (GRCm39) probably benign Het
Tnxb G A 17: 34,904,675 (GRCm39) D1270N probably damaging Het
Vmn2r78 A C 7: 86,569,520 (GRCm39) T138P possibly damaging Het
Wdfy1 T C 1: 79,685,182 (GRCm39) I351V probably benign Het
Other mutations in Itga10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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 96,565,006 (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
Posted On 2013-11-18