Incidental Mutation 'R6841:Itga10'
ID 538015
Institutional Source Beutler Lab
Gene Symbol Itga10
Ensembl Gene ENSMUSG00000090210
Gene Name integrin, alpha 10
Synonyms
MMRRC Submission 044947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6841 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96552900-96571835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96564030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 895 (F895L)
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: F896L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: F896L

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: F895L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: F895L

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
Meta Mutation Damage Score 0.4092 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik G A 11: 6,150,439 (GRCm39) W137* probably null Het
Acads G A 5: 115,250,417 (GRCm39) T169I probably benign Het
Adgrg7 T A 16: 56,570,787 (GRCm39) N414Y probably damaging Het
Ankrd35 T A 3: 96,577,742 (GRCm39) S6T probably damaging Het
Armc3 A G 2: 19,206,630 (GRCm39) probably null Het
Atp9a C A 2: 168,496,140 (GRCm39) V555F possibly damaging Het
Bltp1 A G 3: 37,075,630 (GRCm39) Y3610C probably damaging Het
Cars2 C T 8: 11,566,198 (GRCm39) V443I probably benign Het
Cblc A G 7: 19,526,821 (GRCm39) L137P probably damaging Het
Ccdc198 T C 14: 49,481,270 (GRCm39) probably null Het
Cdk5r1 T A 11: 80,369,021 (GRCm39) C229* probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Cfap54 T C 10: 92,710,877 (GRCm39) Y2728C unknown Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cnot11 C T 1: 39,579,148 (GRCm39) Q12* probably null Het
Commd6 A T 14: 101,874,534 (GRCm39) D19E probably damaging Het
Crygc C T 1: 65,112,361 (GRCm39) G71D possibly damaging Het
Cstf3 A G 2: 104,486,076 (GRCm39) K439E probably benign Het
Cyp11b2 G T 15: 74,727,340 (GRCm39) H114N probably benign Het
Cyp2d40 T C 15: 82,645,687 (GRCm39) D106G probably benign Het
Dhx8 T A 11: 101,655,618 (GRCm39) V1117E probably damaging Het
Duoxa1 G T 2: 122,134,462 (GRCm39) L219I probably damaging Het
Dynap A T 18: 70,374,253 (GRCm39) I91N probably damaging Het
Elfn1 G T 5: 139,958,900 (GRCm39) G635W probably damaging Het
Fan1 A T 7: 64,014,377 (GRCm39) I618N probably damaging Het
Fras1 A G 5: 96,876,410 (GRCm39) D2381G probably damaging Het
Fxyd6 T A 9: 45,302,851 (GRCm39) probably null Het
Gpr137b A T 13: 13,538,094 (GRCm39) W286R probably damaging Het
Gpsm3 A T 17: 34,809,536 (GRCm39) probably null Het
Has1 C T 17: 18,064,122 (GRCm39) V506I probably benign Het
Hoxd10 T A 2: 74,522,616 (GRCm39) V98D probably benign Het
Htr2b T A 1: 86,027,615 (GRCm39) D297V probably benign Het
Hydin G C 8: 111,265,007 (GRCm39) R2730P probably benign Het
I830077J02Rik T C 3: 105,833,830 (GRCm39) N109D possibly damaging Het
Igf2r A T 17: 12,922,263 (GRCm39) F1284I probably damaging Het
Ildr2 C G 1: 166,098,144 (GRCm39) D167E probably damaging Het
Ipo9 T C 1: 135,314,046 (GRCm39) D949G probably benign Het
Itpr1 A G 6: 108,365,153 (GRCm39) N27S probably damaging Het
Klra4 C A 6: 130,042,162 (GRCm39) R35L probably benign Het
Map3k2 T A 18: 32,359,682 (GRCm39) C512S probably benign Het
Mertk A G 2: 128,601,150 (GRCm39) probably null Het
Mgat2 T A 12: 69,232,407 (GRCm39) I327N probably damaging Het
Mogat1 T C 1: 78,499,496 (GRCm39) I59T probably damaging Het
Mrpl2 A T 17: 46,958,382 (GRCm39) M55L probably benign Het
Nxpe3 T C 16: 55,664,685 (GRCm39) M512V possibly damaging Het
Pcdh15 T C 10: 74,286,052 (GRCm39) L769P probably damaging Het
Pcmtd2 T G 2: 181,486,231 (GRCm39) V117G probably damaging Het
Pdia2 A T 17: 26,415,578 (GRCm39) probably null Het
Repin1 A T 6: 48,574,859 (GRCm39) Q593L possibly damaging Het
Rnf213 C T 11: 119,340,692 (GRCm39) T3517I probably benign Het
Rxfp2 A T 5: 149,942,210 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,968 (GRCm39) L138P probably damaging Het
Slc35a3 T A 3: 116,506,417 (GRCm39) Q5L probably null Het
Stab2 T A 10: 86,778,054 (GRCm39) N758I probably damaging Het
Sulf1 T A 1: 12,908,658 (GRCm39) I557N probably damaging Het
Tbc1d8 T C 1: 39,428,455 (GRCm39) I497V possibly damaging Het
Ticam2 A C 18: 46,693,998 (GRCm39) S30A probably benign Het
Timp3 T C 10: 86,181,638 (GRCm39) S170P possibly damaging Het
Top1mt C T 15: 75,547,973 (GRCm39) E38K probably benign Het
Tpp1 G A 7: 105,398,171 (GRCm39) L331F probably damaging Het
Trpm7 A T 2: 126,654,941 (GRCm39) D1332E probably benign Het
Ttc23 A G 7: 67,319,476 (GRCm39) E112G possibly damaging Het
Ttn T C 2: 76,715,296 (GRCm39) probably benign Het
Ttn T A 2: 76,726,934 (GRCm39) probably benign Het
Ubr3 T A 2: 69,850,969 (GRCm39) C1796S probably damaging Het
Ugt2b34 C T 5: 87,040,675 (GRCm39) V416I probably benign Het
Uqcrb A G 13: 67,048,827 (GRCm39) probably benign Het
Vps26b A G 9: 26,921,760 (GRCm39) L255P probably benign Het
Wdr59 A G 8: 112,223,512 (GRCm39) V154A 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
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
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'- CATGGGTTCAGAATGAGGGC -3'
(R):5'- CATCTCTAGGCTACTGCTGCAG -3'

Sequencing Primer
(F):5'- CAAGGTGCTGAGAAAGTTGGTCTG -3'
(R):5'- GGGAGAAAGTTTCACATCCCAGTC -3'
Posted On 2018-10-18