Incidental Mutation 'IGL01877:Itga6'
ID 178929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga6
Ensembl Gene ENSMUSG00000027111
Gene Name integrin alpha 6
Synonyms 5033401O05Rik, Cd49f
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01877
Quality Score
Status
Chromosome 2
Chromosomal Location 71617236-71688761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71668624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 521 (I521T)
Ref Sequence ENSEMBL: ENSMUSP00000107729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]
AlphaFold Q61739
Predicted Effect probably benign
Transcript: ENSMUST00000028522
AA Change: I521T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: I521T

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 benign
Transcript: ENSMUST00000112101
AA Change: I521T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: I521T

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 unknown
Transcript: ENSMUST00000155249
AA Change: I114T
SMART Domains Protein: ENSMUSP00000118086
Gene: ENSMUSG00000027111
AA Change: I114T

DomainStartEndE-ValueType
Pfam:Integrin_alpha2 58 533 4.7e-131 PFAM
transmembrane domain 609 631 N/A INTRINSIC
Pfam:Integrin_alpha 632 646 6.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155596
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,982 (GRCm39) E364G probably benign Het
Aknad1 C T 3: 108,682,406 (GRCm39) P523S probably damaging Het
Alms1 T A 6: 85,599,393 (GRCm39) N1875K possibly damaging Het
Ano4 A T 10: 88,860,932 (GRCm39) Y179* probably null Het
Cacna1h A T 17: 25,607,024 (GRCm39) F965I probably damaging Het
Cfh T A 1: 140,028,567 (GRCm39) I1043F probably damaging Het
Galnt12 T A 4: 47,112,315 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr21 A C 2: 37,408,093 (GRCm39) N213T probably benign Het
Hexa T C 9: 59,471,163 (GRCm39) probably benign Het
Irag2 T C 6: 145,093,525 (GRCm39) S94P probably damaging Het
Jmjd6 G T 11: 116,733,519 (GRCm39) Q53K probably benign Het
Mylk3 T C 8: 86,085,671 (GRCm39) T225A possibly damaging Het
Pcgf2 A G 11: 97,583,359 (GRCm39) V79A probably damaging Het
Setd1b T C 5: 123,286,511 (GRCm39) M519T unknown Het
Slco1c1 T C 6: 141,500,879 (GRCm39) S454P probably damaging Het
Tubb1 C A 2: 174,298,691 (GRCm39) S124R possibly damaging Het
Umodl1 A G 17: 31,201,294 (GRCm39) I408V probably benign Het
Unc13b T C 4: 43,249,583 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r80 A G 10: 79,007,334 (GRCm39) probably null Het
Yipf4 T G 17: 74,799,383 (GRCm39) L41R possibly damaging Het
Zfyve26 A G 12: 79,334,218 (GRCm39) S267P probably 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
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
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
Posted On 2014-05-07