Incidental Mutation 'IGL01675:Itga7'
ID 103622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga7
Ensembl Gene ENSMUSG00000025348
Gene Name integrin alpha 7
Synonyms [a]7, alpha7
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # IGL01675
Quality Score
Status
Chromosome 10
Chromosomal Location 128769645-128794155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128782724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 691 (L691P)
Ref Sequence ENSEMBL: ENSMUSP00000151960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099112] [ENSMUST00000218290]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099112
AA Change: L687P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: L687P

DomainStartEndE-ValueType
Int_alpha 48 110 4.11e-6 SMART
Int_alpha 259 312 3.72e-4 SMART
Int_alpha 316 372 1.16e-14 SMART
Int_alpha 377 430 9.21e-18 SMART
Int_alpha 435 490 4.38e-1 SMART
low complexity region 510 523 N/A INTRINSIC
SCOP:d1m1xa3 807 1039 6e-50 SMART
low complexity region 1041 1058 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158143
Predicted Effect probably damaging
Transcript: ENSMUST00000218290
AA Change: L691P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219897
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded transmembrane protein is the alpha subunit that forms a noncovalent heterodimer with the beta subunit to form the functional integrin receptor that binds to laminin. Mice lacking the encoded protein exhibit symptoms of progressive muscular dystrophy, impaired axonal regeneration and cerebral vascular defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions of this gene display characteristics of muscular dystrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadps2 G T 6: 23,382,904 (GRCm39) L790I probably damaging Het
Hecw1 C T 13: 14,409,007 (GRCm39) R1100Q probably damaging Het
Kcnh1 A G 1: 192,019,901 (GRCm39) D382G probably benign Het
Kcnh5 A T 12: 75,161,274 (GRCm39) C211* probably null Het
Lama2 T C 10: 27,064,050 (GRCm39) T1276A possibly damaging Het
Magea10 A G X: 71,426,721 (GRCm39) V91A probably benign Het
Mtor A G 4: 148,569,111 (GRCm39) T1143A probably benign Het
Pira13 A C 7: 3,825,607 (GRCm39) probably benign Het
Shroom3 A G 5: 93,089,539 (GRCm39) Q763R probably damaging Het
Slirp G A 12: 87,490,787 (GRCm39) A24T probably damaging Het
Tlr6 A T 5: 65,111,842 (GRCm39) I355N probably damaging Het
Tyw5 G A 1: 57,427,791 (GRCm39) A271V possibly damaging Het
Vav3 G A 3: 109,571,729 (GRCm39) G217D probably benign Het
Vmn2r65 A G 7: 84,596,587 (GRCm39) I156T probably benign Het
Vmn2r79 A G 7: 86,645,856 (GRCm39) N62D probably benign Het
Other mutations in Itga7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Itga7 APN 10 128,777,723 (GRCm39) missense possibly damaging 0.67
IGL00809:Itga7 APN 10 128,775,038 (GRCm39) critical splice donor site probably null
IGL01448:Itga7 APN 10 128,785,337 (GRCm39) nonsense probably null
IGL02158:Itga7 APN 10 128,789,651 (GRCm39) missense possibly damaging 0.95
IGL02475:Itga7 APN 10 128,769,958 (GRCm39) missense probably damaging 1.00
IGL02689:Itga7 APN 10 128,782,687 (GRCm39) missense possibly damaging 0.83
IGL02946:Itga7 APN 10 128,769,952 (GRCm39) missense probably benign
IGL03223:Itga7 APN 10 128,784,680 (GRCm39) unclassified probably benign
R0662:Itga7 UTSW 10 128,789,400 (GRCm39) missense probably damaging 1.00
R0972:Itga7 UTSW 10 128,778,746 (GRCm39) missense probably damaging 0.98
R1449:Itga7 UTSW 10 128,789,370 (GRCm39) missense probably benign 0.13
R1521:Itga7 UTSW 10 128,793,680 (GRCm39) missense possibly damaging 0.63
R1597:Itga7 UTSW 10 128,782,732 (GRCm39) missense probably benign 0.17
R1651:Itga7 UTSW 10 128,784,693 (GRCm39) missense probably benign 0.01
R4718:Itga7 UTSW 10 128,776,603 (GRCm39) frame shift probably null
R5011:Itga7 UTSW 10 128,785,316 (GRCm39) missense possibly damaging 0.51
R5151:Itga7 UTSW 10 128,780,380 (GRCm39) missense possibly damaging 0.91
R5287:Itga7 UTSW 10 128,779,027 (GRCm39) missense probably benign 0.38
R5419:Itga7 UTSW 10 128,779,902 (GRCm39) missense probably null 0.06
R5907:Itga7 UTSW 10 128,778,850 (GRCm39) missense probably damaging 1.00
R6165:Itga7 UTSW 10 128,778,804 (GRCm39) missense probably benign 0.16
R6189:Itga7 UTSW 10 128,786,272 (GRCm39) missense possibly damaging 0.76
R6263:Itga7 UTSW 10 128,779,955 (GRCm39) missense probably benign
R6612:Itga7 UTSW 10 128,784,862 (GRCm39) missense possibly damaging 0.65
R6746:Itga7 UTSW 10 128,785,341 (GRCm39) missense probably benign 0.13
R6850:Itga7 UTSW 10 128,781,385 (GRCm39) missense probably damaging 1.00
R7226:Itga7 UTSW 10 128,776,801 (GRCm39) missense probably damaging 0.98
R7257:Itga7 UTSW 10 128,780,282 (GRCm39) missense possibly damaging 0.55
R7344:Itga7 UTSW 10 128,776,798 (GRCm39) missense possibly damaging 0.63
R7456:Itga7 UTSW 10 128,777,805 (GRCm39) missense probably damaging 1.00
R7545:Itga7 UTSW 10 128,769,775 (GRCm39) start gained probably benign
R7643:Itga7 UTSW 10 128,789,370 (GRCm39) missense probably benign 0.13
R7644:Itga7 UTSW 10 128,789,370 (GRCm39) missense probably benign 0.13
R7822:Itga7 UTSW 10 128,778,835 (GRCm39) missense probably benign 0.00
R7998:Itga7 UTSW 10 128,770,020 (GRCm39) missense probably damaging 1.00
R9417:Itga7 UTSW 10 128,793,543 (GRCm39) missense unknown
R9563:Itga7 UTSW 10 128,789,669 (GRCm39) missense probably damaging 1.00
X0020:Itga7 UTSW 10 128,778,746 (GRCm39) missense probably damaging 0.98
Z1088:Itga7 UTSW 10 128,785,032 (GRCm39) missense probably benign 0.10
Z1176:Itga7 UTSW 10 128,789,696 (GRCm39) missense probably benign 0.12
Z1177:Itga7 UTSW 10 128,779,083 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21