Incidental Mutation 'R0611:Itga6'
ID 54683
Institutional Source Beutler Lab
Gene Symbol Itga6
Ensembl Gene ENSMUSG00000027111
Gene Name integrin alpha 6
Synonyms 5033401O05Rik, Cd49f
MMRRC Submission 038800-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0611 (G1)
Quality Score 152
Status Not validated
Chromosome 2
Chromosomal Location 71617236-71688761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71650404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 150 (I150T)
Ref Sequence ENSEMBL: ENSMUSP00000107729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]
AlphaFold Q61739
Predicted Effect possibly damaging
Transcript: ENSMUST00000028522
AA Change: I150T

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: I150T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 40 101 3.12e-6 SMART
Int_alpha 254 303 2.7e-1 SMART
Int_alpha 312 368 1.46e-11 SMART
Int_alpha 373 426 9.73e-17 SMART
Int_alpha 428 483 5.83e0 SMART
SCOP:d1m1xa2 629 786 5e-32 SMART
SCOP:d1m1xa3 797 1017 3e-55 SMART
Pfam:Integrin_alpha 1038 1052 3.2e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112101
AA Change: I150T

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: I150T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 40 101 3.12e-6 SMART
Int_alpha 254 303 2.7e-1 SMART
Int_alpha 312 368 1.46e-11 SMART
Int_alpha 373 426 9.73e-17 SMART
Int_alpha 428 483 5.83e0 SMART
SCOP:d1m1xa2 629 786 4e-32 SMART
SCOP:d1m1xa3 797 1017 4e-55 SMART
low complexity region 1058 1070 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152009
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 4 to bind laminin and to form the main component of hemidesmosomes, which mediate attachment of epithelia to basement membranes. In mouse, deficiency of this gene is associated with absence of hemidesmosomes, severe skin blistering, and early post-natal death. In humans mutations of this gene are associated with epidermolysis bullosa. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,851,479 (GRCm39) M819K possibly damaging Het
Adamtsl3 T G 7: 82,178,120 (GRCm39) C528G probably damaging Het
Akap9 A G 5: 4,004,870 (GRCm39) K148E probably benign Het
Akr1b1 A T 6: 34,286,577 (GRCm39) D225E probably benign Het
Alms1 C A 6: 85,655,653 (GRCm39) Q2931K possibly damaging Het
Ano3 T C 2: 110,715,346 (GRCm39) K31E possibly damaging Het
Cdc37 A G 9: 21,053,537 (GRCm39) I242T probably damaging Het
Celsr1 T A 15: 85,816,524 (GRCm39) K1806N possibly damaging Het
Clpb T A 7: 101,436,956 (GRCm39) I707N possibly damaging Het
Cntnap2 A T 6: 47,072,483 (GRCm39) Y1017F possibly damaging Het
Creb3l2 A T 6: 37,311,416 (GRCm39) S458T probably benign Het
Ctnnd2 C A 15: 31,009,230 (GRCm39) T1109K possibly damaging Het
Dcaf10 T A 4: 45,373,011 (GRCm39) L425Q probably damaging Het
Dlec1 A G 9: 118,941,167 (GRCm39) E239G probably benign Het
Dnah2 T C 11: 69,390,020 (GRCm39) K742E probably damaging Het
Dsp A T 13: 38,371,717 (GRCm39) R889S probably damaging Het
Dync1h1 T A 12: 110,599,222 (GRCm39) M1859K probably damaging Het
Efcab7 T A 4: 99,758,886 (GRCm39) N361K probably damaging Het
Eps8l2 T C 7: 140,935,646 (GRCm39) V139A probably damaging Het
Fads3 T G 19: 10,019,200 (GRCm39) H35Q probably damaging Het
Fam163b C A 2: 27,003,583 (GRCm39) V24F probably damaging Het
Gm14496 A T 2: 181,636,904 (GRCm39) T121S probably benign Het
Gm4799 C T 10: 82,790,563 (GRCm39) noncoding transcript Het
Gm7168 A T 17: 14,169,797 (GRCm39) D388V probably benign Het
Gmeb1 A T 4: 131,953,386 (GRCm39) L460* probably null Het
Gpc6 T G 14: 118,212,430 (GRCm39) F534V probably null Het
Hectd3 A G 4: 116,853,241 (GRCm39) D156G possibly damaging Het
Kansl1 A G 11: 104,229,012 (GRCm39) M863T probably benign Het
Kcnb2 A T 1: 15,780,664 (GRCm39) Y512F probably benign Het
Klhdc2 A T 12: 69,347,053 (GRCm39) M73L probably benign Het
Ktn1 A G 14: 47,932,073 (GRCm39) T667A probably benign Het
Lgsn A C 1: 31,242,736 (GRCm39) I273L probably benign Het
Lilra5 A G 7: 4,245,232 (GRCm39) D292G probably benign Het
Mrps27 C T 13: 99,541,582 (GRCm39) R229C probably damaging Het
Muc5b T G 7: 141,416,173 (GRCm39) S3040A probably benign Het
Nat14 T C 7: 4,926,275 (GRCm39) S7P probably damaging Het
Nfia A G 4: 97,671,694 (GRCm39) I135V possibly damaging Het
Nkd1 G A 8: 89,248,944 (GRCm39) A30T probably damaging Het
Nup205 A G 6: 35,202,903 (GRCm39) D1370G probably null Het
Or1j15 C G 2: 36,459,568 (GRCm39) probably null Het
Or4k15c G A 14: 50,321,310 (GRCm39) T276I probably damaging Het
Or51k2 T C 7: 103,596,400 (GRCm39) L209P probably damaging Het
Or5p79 T A 7: 108,221,494 (GRCm39) N158K possibly damaging Het
Or8s10 T C 15: 98,336,168 (GRCm39) S273P possibly damaging Het
Orc1 C T 4: 108,459,229 (GRCm39) A466V probably benign Het
Otud7a T A 7: 63,385,638 (GRCm39) D367E possibly damaging Het
Pcdhb4 A G 18: 37,441,263 (GRCm39) Y191C probably damaging Het
Pclo T C 5: 14,762,828 (GRCm39) V3767A unknown Het
Pclo T C 5: 14,728,789 (GRCm39) probably benign Het
Prmt1 A T 7: 44,628,225 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,842,483 (GRCm39) F62S probably damaging Het
Rangrf T C 11: 68,863,518 (GRCm39) S163G probably benign Het
Rgs12 C A 5: 35,176,804 (GRCm39) A65E probably damaging Het
Rrbp1 T C 2: 143,830,436 (GRCm39) N577S probably damaging Het
Septin11 A G 5: 93,315,393 (GRCm39) H374R probably damaging Het
Serpina5 T G 12: 104,070,046 (GRCm39) N314K probably benign Het
Sgce T C 6: 4,689,621 (GRCm39) D395G probably damaging Het
Slc26a9 A T 1: 131,690,499 (GRCm39) N501I probably damaging Het
Slc9c1 A G 16: 45,401,965 (GRCm39) D784G possibly damaging Het
Snapc2 A G 8: 4,305,676 (GRCm39) D207G probably benign Het
Stard9 G T 2: 120,529,738 (GRCm39) M1998I probably benign Het
Stk38 A C 17: 29,194,907 (GRCm39) F280V possibly damaging Het
Tas2r126 A G 6: 42,412,025 (GRCm39) K186R probably damaging Het
Tdp1 A C 12: 99,875,970 (GRCm39) D307A probably benign Het
Tead2 A G 7: 44,866,674 (GRCm39) D11G probably damaging Het
Tmco4 C A 4: 138,747,383 (GRCm39) L211I probably damaging Het
Tmem183a A G 1: 134,280,115 (GRCm39) F255S probably damaging Het
Tmem87a C T 2: 120,205,929 (GRCm39) G349S possibly damaging Het
Tpte G A 8: 22,826,549 (GRCm39) E377K possibly damaging Het
Trim32 T C 4: 65,531,893 (GRCm39) F150S possibly damaging Het
Trpc7 T A 13: 57,035,636 (GRCm39) K99M probably damaging Het
Ttc22 A G 4: 106,491,381 (GRCm39) K195E probably damaging Het
Txn2 G A 15: 77,811,917 (GRCm39) P7S probably damaging Het
Ubxn2a G A 12: 4,930,700 (GRCm39) T220I probably damaging Het
Ufd1 A G 16: 18,633,626 (GRCm39) N17S possibly damaging Het
Unc13a A G 8: 72,102,509 (GRCm39) S958P probably damaging Het
Vmn1r202 T A 13: 22,685,824 (GRCm39) M198L probably damaging Het
Vmn2r84 G A 10: 130,221,991 (GRCm39) A743V probably damaging Het
Washc5 A G 15: 59,213,007 (GRCm39) F891S probably damaging Het
Zfp708 T C 13: 67,218,375 (GRCm39) T495A probably benign Het
Zfp81 A G 17: 33,553,593 (GRCm39) I407T probably benign Het
Zswim5 T C 4: 116,843,874 (GRCm39) probably null Het
Other mutations in Itga6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00832:Itga6 APN 2 71,668,606 (GRCm39) splice site probably null
IGL00902:Itga6 APN 2 71,679,738 (GRCm39) missense probably benign 0.39
IGL01360:Itga6 APN 2 71,617,670 (GRCm39) splice site probably null
IGL01621:Itga6 APN 2 71,656,000 (GRCm39) missense probably benign 0.02
IGL01877:Itga6 APN 2 71,668,624 (GRCm39) missense probably benign
IGL02332:Itga6 APN 2 71,668,717 (GRCm39) missense possibly damaging 0.63
IGL02556:Itga6 APN 2 71,669,027 (GRCm39) missense probably benign 0.20
IGL02713:Itga6 APN 2 71,647,057 (GRCm39) missense possibly damaging 0.79
IGL02811:Itga6 APN 2 71,657,076 (GRCm39) missense probably damaging 0.98
IGL03171:Itga6 APN 2 71,671,673 (GRCm39) critical splice donor site probably null
isle_royale UTSW 2 71,617,577 (GRCm39) missense probably benign 0.04
PIT4418001:Itga6 UTSW 2 71,664,414 (GRCm39) missense probably benign 0.06
R0070:Itga6 UTSW 2 71,657,060 (GRCm39) unclassified probably benign
R1404:Itga6 UTSW 2 71,669,060 (GRCm39) missense probably benign
R1404:Itga6 UTSW 2 71,669,060 (GRCm39) missense probably benign
R1439:Itga6 UTSW 2 71,664,378 (GRCm39) missense probably damaging 1.00
R1487:Itga6 UTSW 2 71,673,584 (GRCm39) missense possibly damaging 0.87
R1713:Itga6 UTSW 2 71,617,546 (GRCm39) missense probably benign
R1720:Itga6 UTSW 2 71,650,510 (GRCm39) missense probably damaging 1.00
R1816:Itga6 UTSW 2 71,671,153 (GRCm39) missense probably benign 0.00
R1866:Itga6 UTSW 2 71,664,414 (GRCm39) missense probably benign
R2009:Itga6 UTSW 2 71,647,025 (GRCm39) missense probably benign 0.26
R2018:Itga6 UTSW 2 71,648,828 (GRCm39) missense probably benign 0.16
R2171:Itga6 UTSW 2 71,650,358 (GRCm39) missense probably damaging 1.00
R2189:Itga6 UTSW 2 71,655,961 (GRCm39) missense probably benign 0.00
R2289:Itga6 UTSW 2 71,648,873 (GRCm39) missense probably damaging 0.99
R2399:Itga6 UTSW 2 71,650,358 (GRCm39) missense probably damaging 1.00
R4437:Itga6 UTSW 2 71,655,982 (GRCm39) missense probably benign 0.42
R4482:Itga6 UTSW 2 71,686,259 (GRCm39) missense probably damaging 1.00
R4773:Itga6 UTSW 2 71,652,788 (GRCm39) missense probably benign 0.13
R4786:Itga6 UTSW 2 71,669,034 (GRCm39) missense possibly damaging 0.80
R4898:Itga6 UTSW 2 71,668,717 (GRCm39) missense possibly damaging 0.77
R5074:Itga6 UTSW 2 71,656,779 (GRCm39) missense probably benign
R5386:Itga6 UTSW 2 71,671,494 (GRCm39) missense probably damaging 1.00
R5591:Itga6 UTSW 2 71,670,934 (GRCm39) missense probably damaging 1.00
R6024:Itga6 UTSW 2 71,617,577 (GRCm39) missense probably benign 0.04
R6174:Itga6 UTSW 2 71,664,053 (GRCm39) missense possibly damaging 0.88
R6210:Itga6 UTSW 2 71,664,351 (GRCm39) critical splice acceptor site probably null
R6432:Itga6 UTSW 2 71,664,116 (GRCm39) missense possibly damaging 0.75
R6644:Itga6 UTSW 2 71,671,468 (GRCm39) missense probably damaging 1.00
R7354:Itga6 UTSW 2 71,650,574 (GRCm39) missense probably damaging 1.00
R7402:Itga6 UTSW 2 71,683,897 (GRCm39) missense probably benign 0.05
R7479:Itga6 UTSW 2 71,668,680 (GRCm39) nonsense probably null
R7635:Itga6 UTSW 2 71,673,577 (GRCm39) missense probably benign 0.00
R7657:Itga6 UTSW 2 71,676,595 (GRCm39) missense probably benign 0.40
R7737:Itga6 UTSW 2 71,652,787 (GRCm39) missense probably benign 0.38
R7782:Itga6 UTSW 2 71,671,879 (GRCm39) missense probably damaging 0.98
R8062:Itga6 UTSW 2 71,672,087 (GRCm39) missense probably benign 0.11
R8312:Itga6 UTSW 2 71,686,297 (GRCm39) missense probably benign
R8698:Itga6 UTSW 2 71,673,618 (GRCm39) missense probably benign
R9080:Itga6 UTSW 2 71,673,633 (GRCm39) missense probably benign
R9169:Itga6 UTSW 2 71,647,015 (GRCm39) missense possibly damaging 0.74
R9209:Itga6 UTSW 2 71,671,477 (GRCm39) missense probably benign 0.27
R9267:Itga6 UTSW 2 71,668,756 (GRCm39) missense probably benign 0.00
R9483:Itga6 UTSW 2 71,679,834 (GRCm39) missense probably benign 0.03
R9747:Itga6 UTSW 2 71,656,871 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTAAGCGTTCCAGTTCTGTCAAG -3'
(R):5'- GGCCATACCTTTCCAGTTGTAAGTCC -3'

Sequencing Primer
(F):5'- gctggggattgaactcaagac -3'
(R):5'- TTTTCATGGCCTCTCAACCG -3'
Posted On 2013-07-11