Incidental Mutation 'R6850:Itga7'
ID 535607
Institutional Source Beutler Lab
Gene Symbol Itga7
Ensembl Gene ENSMUSG00000025348
Gene Name integrin alpha 7
Synonyms [a]7, alpha7
MMRRC Submission 044954-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R6850 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128769645-128794155 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128781385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 621 (I621F)
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: I617F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: I617F

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 probably damaging
Transcript: ENSMUST00000218290
AA Change: I621F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.4808 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,270,318 (GRCm39) M927V probably benign Het
Agr2 A G 12: 36,045,558 (GRCm39) I15V probably benign Het
Alpk1 A G 3: 127,523,012 (GRCm39) I10T possibly damaging Het
Art5 A G 7: 101,747,302 (GRCm39) V159A possibly damaging Het
Asz1 G A 6: 18,108,942 (GRCm39) R32W probably benign Het
Atp8b1 A C 18: 64,689,923 (GRCm39) M603R possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Car9 A G 4: 43,507,321 (GRCm39) E3G probably damaging Het
Cpne3 A T 4: 19,535,231 (GRCm39) I267N possibly damaging Het
Cyp2c65 T A 19: 39,057,535 (GRCm39) F57I probably benign Het
D430041D05Rik T C 2: 104,031,604 (GRCm39) K980R probably damaging Het
Dnhd1 G T 7: 105,369,137 (GRCm39) G4303W possibly damaging Het
Dnmt3a A G 12: 3,947,600 (GRCm39) N485D probably benign Het
Dusp4 A T 8: 35,283,651 (GRCm39) K166* probably null Het
Ect2 T C 3: 27,193,034 (GRCm39) D344G probably damaging Het
Eif2b1 T C 5: 124,717,069 (GRCm39) D3G probably benign Het
Ermp1 A G 19: 29,594,041 (GRCm39) Y710H probably damaging Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
H2-T10 A G 17: 36,430,152 (GRCm39) L263P probably damaging Het
Iqcn A T 8: 71,163,425 (GRCm39) N873Y probably damaging Het
Kcna3 A T 3: 106,944,475 (GRCm39) D246V probably damaging Het
Kctd12 C T 14: 103,219,414 (GRCm39) G155S probably benign Het
Lrtm1 T C 14: 28,749,407 (GRCm39) V256A probably benign Het
Mcf2l T C 8: 13,059,476 (GRCm39) F629L possibly damaging Het
Mphosph9 A G 5: 124,399,019 (GRCm39) F999L probably damaging Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Obscn C T 11: 58,892,955 (GRCm39) A6764T possibly damaging Het
Obscn C T 11: 58,958,950 (GRCm39) V3643M possibly damaging Het
Or4c102 T A 2: 88,422,650 (GRCm39) C167* probably null Het
Or8g18 T C 9: 39,149,271 (GRCm39) I150V probably benign Het
Pdhx T C 2: 102,871,445 (GRCm39) H195R probably damaging Het
Pdilt A T 7: 119,086,182 (GRCm39) V511E probably damaging Het
Prima1 C T 12: 103,163,594 (GRCm39) D126N probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prune2 C A 19: 17,099,552 (GRCm39) D1685E probably benign Het
Ptgs2 A T 1: 149,981,291 (GRCm39) I525F probably damaging Het
Rab11fip2 A T 19: 59,925,441 (GRCm39) F259I possibly damaging Het
Ranbp3l C A 15: 9,058,808 (GRCm39) D216E probably damaging Het
Scn5a A T 9: 119,330,815 (GRCm39) L1240Q possibly damaging Het
Sohlh2 A T 3: 55,099,707 (GRCm39) T160S probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spata31h1 A C 10: 82,128,888 (GRCm39) M1374R possibly damaging Het
Tank A G 2: 61,480,346 (GRCm39) E294G probably benign Het
Tars1 T A 15: 11,392,885 (GRCm39) Y187F probably benign Het
Tas2r144 T A 6: 42,192,857 (GRCm39) M199K possibly damaging Het
Tdrd3 T C 14: 87,695,515 (GRCm39) probably benign Het
Tecta T A 9: 42,255,134 (GRCm39) D1683V probably benign Het
Tln2 A G 9: 67,165,817 (GRCm39) I2098T probably damaging Het
Tmie A G 9: 110,695,980 (GRCm39) I137T possibly damaging Het
Trim45 T A 3: 100,830,541 (GRCm39) L105* probably null Het
Trpv3 G A 11: 73,182,519 (GRCm39) G568S probably damaging Het
Wdr75 A G 1: 45,853,758 (GRCm39) T390A probably benign Het
Wdr97 A G 15: 76,241,996 (GRCm39) Y763C probably damaging Het
Zfp35 G A 18: 24,135,839 (GRCm39) R61H possibly damaging 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
IGL01675:Itga7 APN 10 128,782,724 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACATGCATTTCCATCTGCGC -3'
(R):5'- CTTTGAGGTATCGCATCACCTAC -3'

Sequencing Primer
(F):5'- ACAAGAGTCTTCAGTGTACTGG -3'
(R):5'- CGCATCACCTACATTTATAGGGTTG -3'
Posted On 2018-09-12