Incidental Mutation 'R6751:Itga11'
ID 530779
Institutional Source Beutler Lab
Gene Symbol Itga11
Ensembl Gene ENSMUSG00000032243
Gene Name integrin alpha 11
Synonyms 4732459H24Rik
MMRRC Submission 044868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R6751 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 62585108-62691264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62675866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 892 (V892I)
Ref Sequence ENSEMBL: ENSMUSP00000034774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034774]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034774
AA Change: V892I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: V892I

DomainStartEndE-ValueType
Int_alpha 37 90 3.9e-7 SMART
VWA 162 350 2.74e-38 SMART
Int_alpha 421 472 2.19e-1 SMART
Int_alpha 476 532 3.75e-9 SMART
Int_alpha 538 593 1.39e-12 SMART
Int_alpha 600 654 1.08e0 SMART
transmembrane domain 1142 1164 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159012
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,771,971 (GRCm39) N387Y probably damaging Het
Abhd17a T C 10: 80,422,421 (GRCm39) E87G probably damaging Het
Aco1 T A 4: 40,188,330 (GRCm39) probably null Het
Adcy6 T C 15: 98,494,086 (GRCm39) N817S probably benign Het
Ak8 T A 2: 28,599,957 (GRCm39) L63* probably null Het
Arhgef28 G A 13: 98,211,755 (GRCm39) S76L probably damaging Het
Asap1 A G 15: 63,966,261 (GRCm39) L891S possibly damaging Het
Cacng5 C A 11: 107,768,379 (GRCm39) M209I probably benign Het
Casr T C 16: 36,335,950 (GRCm39) I120V probably benign Het
Ccnq T C 11: 78,641,950 (GRCm39) Y180C probably damaging Het
Chd7 T C 4: 8,833,866 (GRCm39) Y1207H probably damaging Het
Chrnb2 A T 3: 89,668,883 (GRCm39) F144Y probably damaging Het
Cyp4a14 T A 4: 115,348,391 (GRCm39) H362L probably damaging Het
Dnaaf4 A G 9: 72,869,257 (GRCm39) T156A probably benign Het
Dym G A 18: 75,419,718 (GRCm39) V630M probably damaging Het
Dync2i1 A T 12: 116,177,076 (GRCm39) V842E possibly damaging Het
Dyrk1b C A 7: 27,886,134 (GRCm39) P619Q probably damaging Het
Eml5 T C 12: 98,831,659 (GRCm39) D433G probably damaging Het
Frem2 A T 3: 53,561,086 (GRCm39) S1140R probably damaging Het
Gabra5 T C 7: 57,068,082 (GRCm39) R255G probably damaging Het
Galnt17 T A 5: 131,110,428 (GRCm39) I304F probably damaging Het
Gpc5 A G 14: 115,607,363 (GRCm39) S322G probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hmcn1 T A 1: 150,610,269 (GRCm39) N1467Y probably damaging Het
Ifna6 T C 4: 88,745,987 (GRCm39) L112P probably damaging Het
Ifrd1 C T 12: 40,253,913 (GRCm39) probably null Het
Il17f A G 1: 20,849,713 (GRCm39) M17T probably benign Het
Nckap5l A G 15: 99,321,042 (GRCm39) L1246P probably damaging Het
Nlrp4f A T 13: 65,342,243 (GRCm39) H467Q probably damaging Het
Ntng2 A G 2: 29,118,055 (GRCm39) V131A possibly damaging Het
Or51r1 G A 7: 102,227,706 (GRCm39) M1I probably null Het
Or8b40 T G 9: 38,027,271 (GRCm39) Y60D probably damaging Het
Or8g37 T A 9: 39,731,193 (GRCm39) V86E probably benign Het
Or8g55 T C 9: 39,784,976 (GRCm39) V135A probably benign Het
Osbpl8 T C 10: 111,110,874 (GRCm39) Y459H possibly damaging Het
Pabpc1 A T 15: 36,597,778 (GRCm39) V537D possibly damaging Het
Pde4b A T 4: 102,459,868 (GRCm39) M583L probably damaging Het
Phlda1 T C 10: 111,342,555 (GRCm39) V97A possibly damaging Het
Pik3cb G T 9: 98,976,574 (GRCm39) H174Q probably benign Het
Plxdc2 A T 2: 16,552,952 (GRCm39) I117F probably benign Het
Psapl1 C A 5: 36,362,303 (GRCm39) C298* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Rtkn2 T A 10: 67,877,283 (GRCm39) F448I probably benign Het
Scn10a T C 9: 119,500,617 (GRCm39) R221G probably damaging Het
Serpina3c A G 12: 104,117,759 (GRCm39) L193P probably damaging Het
Sox12 T C 2: 152,238,678 (GRCm39) Y314C probably damaging Het
Spata31h1 A G 10: 82,119,331 (GRCm39) S4560P probably benign Het
Sptbn1 T C 11: 30,067,859 (GRCm39) E1772G probably damaging Het
Supt6 A G 11: 78,099,775 (GRCm39) V1570A probably benign Het
Synrg T C 11: 83,872,251 (GRCm39) F125S probably damaging Het
Tenm4 A T 7: 96,494,919 (GRCm39) I1116F possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tfap2d C A 1: 19,173,507 (GRCm39) H10N possibly damaging Het
Trpm8 T C 1: 88,312,428 (GRCm39) I1103T possibly damaging Het
Vmn1r158 C T 7: 22,489,306 (GRCm39) C301Y probably damaging Het
Vmn2r56 T C 7: 12,428,719 (GRCm39) I516V probably benign Het
Vmn2r71 G A 7: 85,269,095 (GRCm39) probably null Het
Vnn3 C T 10: 23,745,523 (GRCm39) R491C probably benign Het
Vps50 A G 6: 3,600,274 (GRCm39) Y911C probably damaging Het
Zfp772 C T 7: 7,206,716 (GRCm39) R325Q possibly damaging Het
Zranb3 T A 1: 127,887,556 (GRCm39) H957L probably benign Het
Zscan20 G T 4: 128,479,668 (GRCm39) T941K probably damaging Het
Zscan25 T A 5: 145,227,373 (GRCm39) F346I probably damaging Het
Other mutations in Itga11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Itga11 APN 9 62,676,587 (GRCm39) missense possibly damaging 0.58
IGL01108:Itga11 APN 9 62,664,903 (GRCm39) missense probably benign
IGL01348:Itga11 APN 9 62,651,861 (GRCm39) missense possibly damaging 0.83
IGL01739:Itga11 APN 9 62,681,399 (GRCm39) missense probably benign 0.03
IGL01918:Itga11 APN 9 62,680,278 (GRCm39) missense probably benign 0.05
IGL02237:Itga11 APN 9 62,663,057 (GRCm39) critical splice donor site probably null
IGL02418:Itga11 APN 9 62,651,914 (GRCm39) missense probably benign 0.30
IGL02451:Itga11 APN 9 62,642,635 (GRCm39) missense probably damaging 1.00
sneezy UTSW 9 62,639,391 (GRCm39) missense probably damaging 1.00
PIT4812001:Itga11 UTSW 9 62,639,475 (GRCm39) missense probably damaging 1.00
R0013:Itga11 UTSW 9 62,683,895 (GRCm39) missense possibly damaging 0.89
R0013:Itga11 UTSW 9 62,683,895 (GRCm39) missense possibly damaging 0.89
R0032:Itga11 UTSW 9 62,681,377 (GRCm39) missense probably benign 0.05
R0032:Itga11 UTSW 9 62,681,377 (GRCm39) missense probably benign 0.05
R0101:Itga11 UTSW 9 62,651,768 (GRCm39) missense probably damaging 1.00
R0114:Itga11 UTSW 9 62,667,584 (GRCm39) missense possibly damaging 0.85
R0114:Itga11 UTSW 9 62,642,575 (GRCm39) missense probably damaging 1.00
R0212:Itga11 UTSW 9 62,653,251 (GRCm39) missense probably benign 0.22
R0310:Itga11 UTSW 9 62,667,628 (GRCm39) missense probably damaging 1.00
R0455:Itga11 UTSW 9 62,604,243 (GRCm39) missense probably damaging 1.00
R0558:Itga11 UTSW 9 62,659,570 (GRCm39) missense probably benign 0.01
R0607:Itga11 UTSW 9 62,681,653 (GRCm39) missense probably benign 0.00
R0924:Itga11 UTSW 9 62,683,956 (GRCm39) missense probably benign 0.14
R1085:Itga11 UTSW 9 62,585,252 (GRCm39) missense probably benign 0.03
R1477:Itga11 UTSW 9 62,662,493 (GRCm39) missense probably benign
R1647:Itga11 UTSW 9 62,667,652 (GRCm39) missense probably benign 0.01
R1831:Itga11 UTSW 9 62,689,300 (GRCm39) missense probably damaging 1.00
R1880:Itga11 UTSW 9 62,585,231 (GRCm39) missense probably benign 0.06
R1934:Itga11 UTSW 9 62,651,796 (GRCm39) missense probably damaging 1.00
R2025:Itga11 UTSW 9 62,670,093 (GRCm39) missense probably damaging 1.00
R2046:Itga11 UTSW 9 62,634,979 (GRCm39) missense probably damaging 1.00
R2145:Itga11 UTSW 9 62,639,486 (GRCm39) splice site probably benign
R2922:Itga11 UTSW 9 62,675,912 (GRCm39) splice site probably benign
R3011:Itga11 UTSW 9 62,604,262 (GRCm39) missense probably damaging 0.99
R3158:Itga11 UTSW 9 62,676,560 (GRCm39) missense probably benign 0.02
R3809:Itga11 UTSW 9 62,678,664 (GRCm39) missense probably benign
R3836:Itga11 UTSW 9 62,676,565 (GRCm39) missense probably benign 0.00
R4051:Itga11 UTSW 9 62,662,933 (GRCm39) nonsense probably null
R4190:Itga11 UTSW 9 62,639,391 (GRCm39) missense probably damaging 1.00
R4510:Itga11 UTSW 9 62,668,870 (GRCm39) missense probably damaging 0.96
R4511:Itga11 UTSW 9 62,668,870 (GRCm39) missense probably damaging 0.96
R4678:Itga11 UTSW 9 62,642,639 (GRCm39) missense probably damaging 0.98
R4706:Itga11 UTSW 9 62,662,578 (GRCm39) missense possibly damaging 0.64
R4713:Itga11 UTSW 9 62,673,070 (GRCm39) missense probably damaging 1.00
R4798:Itga11 UTSW 9 62,684,009 (GRCm39) splice site probably null
R4909:Itga11 UTSW 9 62,662,581 (GRCm39) missense probably damaging 1.00
R4915:Itga11 UTSW 9 62,659,530 (GRCm39) nonsense probably null
R4957:Itga11 UTSW 9 62,674,930 (GRCm39) missense probably benign 0.00
R4962:Itga11 UTSW 9 62,668,850 (GRCm39) nonsense probably null
R5081:Itga11 UTSW 9 62,662,478 (GRCm39) missense probably benign 0.13
R5265:Itga11 UTSW 9 62,644,694 (GRCm39) missense probably benign 0.05
R5308:Itga11 UTSW 9 62,663,051 (GRCm39) missense probably benign
R5398:Itga11 UTSW 9 62,653,205 (GRCm39) missense probably benign 0.21
R5717:Itga11 UTSW 9 62,659,531 (GRCm39) missense probably benign 0.26
R5885:Itga11 UTSW 9 62,670,132 (GRCm39) missense probably damaging 0.99
R5996:Itga11 UTSW 9 62,662,955 (GRCm39) missense probably benign 0.01
R6394:Itga11 UTSW 9 62,642,548 (GRCm39) splice site probably null
R7041:Itga11 UTSW 9 62,659,538 (GRCm39) missense probably damaging 1.00
R7264:Itga11 UTSW 9 62,653,190 (GRCm39) missense probably benign 0.02
R7509:Itga11 UTSW 9 62,689,222 (GRCm39) missense probably benign
R7601:Itga11 UTSW 9 62,604,208 (GRCm39) missense probably benign 0.18
R7615:Itga11 UTSW 9 62,651,300 (GRCm39) missense probably benign 0.00
R8263:Itga11 UTSW 9 62,604,262 (GRCm39) missense possibly damaging 0.86
R8285:Itga11 UTSW 9 62,659,540 (GRCm39) missense probably damaging 1.00
R8419:Itga11 UTSW 9 62,662,460 (GRCm39) missense possibly damaging 0.59
R8422:Itga11 UTSW 9 62,674,960 (GRCm39) missense probably benign 0.00
R8469:Itga11 UTSW 9 62,678,680 (GRCm39) missense probably benign 0.00
R8475:Itga11 UTSW 9 62,651,327 (GRCm39) missense probably damaging 1.00
R8871:Itga11 UTSW 9 62,668,823 (GRCm39) nonsense probably null
R8904:Itga11 UTSW 9 62,664,893 (GRCm39) missense probably benign
R8954:Itga11 UTSW 9 62,676,545 (GRCm39) missense possibly damaging 0.58
R8977:Itga11 UTSW 9 62,662,922 (GRCm39) missense probably damaging 0.98
R9011:Itga11 UTSW 9 62,662,909 (GRCm39) missense probably benign 0.43
R9038:Itga11 UTSW 9 62,675,039 (GRCm39) missense possibly damaging 0.90
R9089:Itga11 UTSW 9 62,678,662 (GRCm39) missense probably damaging 1.00
R9262:Itga11 UTSW 9 62,659,678 (GRCm39) splice site probably benign
R9327:Itga11 UTSW 9 62,638,034 (GRCm39) missense probably damaging 1.00
R9487:Itga11 UTSW 9 62,670,171 (GRCm39) missense probably benign 0.35
R9794:Itga11 UTSW 9 62,662,868 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCTAGTTCCCACAGTCAGG -3'
(R):5'- TGCAAAGACAGCAGCTCTCTG -3'

Sequencing Primer
(F):5'- CACAGTCAGGGGTGGGTG -3'
(R):5'- CTTCATGCATGCTAGGCAAG -3'
Posted On 2018-08-01