Incidental Mutation 'R2171:Itga6'
ID 237458
Institutional Source Beutler Lab
Gene Symbol Itga6
Ensembl Gene ENSMUSG00000027111
Gene Name integrin alpha 6
Synonyms 5033401O05Rik, Cd49f
MMRRC Submission 040173-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2171 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 71617236-71688761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71650358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 135 (Y135N)
Ref Sequence ENSEMBL: ENSMUSP00000107729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]
AlphaFold Q61739
Predicted Effect probably damaging
Transcript: ENSMUST00000028522
AA Change: Y135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: Y135N

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 probably damaging
Transcript: ENSMUST00000112101
AA Change: Y135N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: Y135N

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A G 13: 23,606,387 (GRCm39) L189P probably damaging Het
Adgrl3 C A 5: 81,660,362 (GRCm39) S377* probably null Het
Adgrv1 A G 13: 81,419,037 (GRCm39) V5986A probably damaging Het
Arv1 T G 8: 125,455,094 (GRCm39) C102W probably damaging Het
Asb18 T C 1: 89,896,419 (GRCm39) H207R probably benign Het
Bach2 T C 4: 32,501,662 (GRCm39) V13A probably damaging Het
Bccip T C 7: 133,320,843 (GRCm39) S206P probably benign Het
Cdhr4 T C 9: 107,870,117 (GRCm39) S41P probably benign Het
Chd7 A G 4: 8,752,424 (GRCm39) Y307C probably damaging Het
Clec4f A T 6: 83,629,846 (GRCm39) S237R possibly damaging Het
Cntnap5a A G 1: 116,116,132 (GRCm39) D538G possibly damaging Het
Col9a2 T A 4: 120,902,198 (GRCm39) C173* probably null Het
Ctr9 T A 7: 110,646,117 (GRCm39) M703K possibly damaging Het
Cyp2a12 A G 7: 26,729,057 (GRCm39) Y83C probably damaging Het
Eef1akmt3 A C 10: 126,868,843 (GRCm39) D210E probably benign Het
Erbin A G 13: 103,971,466 (GRCm39) F717L probably benign Het
Gtf3a A G 5: 146,892,272 (GRCm39) N341S probably benign Het
Hltf T C 3: 20,113,245 (GRCm39) V6A probably damaging Het
Krt73 T C 15: 101,709,345 (GRCm39) Q154R possibly damaging Het
Lce1a1 C T 3: 92,554,048 (GRCm39) C142Y unknown Het
Lcorl A T 5: 45,904,493 (GRCm39) I112N probably damaging Het
Ltbp1 C T 17: 75,598,312 (GRCm39) H916Y probably damaging Het
Lypla2 T C 4: 135,697,915 (GRCm39) probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mmp1a T A 9: 7,475,357 (GRCm39) D375E probably damaging Het
Nlrp14 T G 7: 106,781,709 (GRCm39) L302R probably damaging Het
Npy2r T G 3: 82,447,708 (GRCm39) T243P possibly damaging Het
Or11h4 A T 14: 50,973,876 (GRCm39) S248T probably benign Het
Or51k2 T C 7: 103,595,992 (GRCm39) V73A probably damaging Het
Paqr9 A T 9: 95,442,931 (GRCm39) H307L probably damaging Het
Phc3 T C 3: 31,005,078 (GRCm39) T172A probably damaging Het
Pigs A G 11: 78,219,638 (GRCm39) T39A probably damaging Het
Pik3c2g C T 6: 139,801,012 (GRCm39) Q386* probably null Het
Pira2 T C 7: 3,847,417 (GRCm39) S91G probably benign Het
Plxna2 T A 1: 194,482,925 (GRCm39) N1539K probably damaging Het
Poc5 C T 13: 96,547,257 (GRCm39) H507Y probably damaging Het
Pou2f1 A T 1: 165,707,925 (GRCm39) probably benign Het
Pthlh T G 6: 147,158,694 (GRCm39) K89Q probably damaging Het
Rims4 A T 2: 163,706,046 (GRCm39) probably null Het
Rnf138 A G 18: 21,159,143 (GRCm39) N188D probably damaging Het
Rreb1 A G 13: 38,114,822 (GRCm39) D727G probably benign Het
Sc5d T G 9: 42,166,682 (GRCm39) K286Q probably benign Het
Slc10a5 C T 3: 10,400,342 (GRCm39) G106D possibly damaging Het
Smg6 A T 11: 74,929,472 (GRCm39) Q967L probably damaging Het
Spty2d1 C T 7: 46,644,361 (GRCm39) R636H probably damaging Het
Srms A T 2: 180,850,573 (GRCm39) Y195* probably null Het
Susd4 A G 1: 182,719,759 (GRCm39) D458G probably benign Het
Tecta T C 9: 42,270,220 (GRCm39) R1363G probably damaging Het
Thbs1 G A 2: 117,953,060 (GRCm39) G890D probably damaging Het
Tpp2 T C 1: 43,996,606 (GRCm39) V317A probably benign Het
Ttpa T C 4: 20,021,357 (GRCm39) V175A probably damaging Het
Vps13b G T 15: 35,887,343 (GRCm39) D3251Y probably benign Het
Vps54 A G 11: 21,248,810 (GRCm39) D441G probably benign Het
Zfp738 A T 13: 67,819,096 (GRCm39) Y298* probably null Het
Zfp804a G A 2: 82,087,527 (GRCm39) C452Y possibly damaging Het
Zxdc A G 6: 90,359,461 (GRCm39) K698E possibly damaging 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
R0611:Itga6 UTSW 2 71,650,404 (GRCm39) missense possibly damaging 0.84
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
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'- TAAGCGTTCCAGTTCTGTCAAG -3'
(R):5'- TTGCTGACAGGAGCCAAAC -3'

Sequencing Primer
(F):5'- AGAGGGCATTGGGTCCCATTAC -3'
(R):5'- GGAGCCAAACTTTTCATGGC -3'
Posted On 2014-10-02