Incidental Mutation 'IGL02020:Itga3'
ID 183936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga3
Ensembl Gene ENSMUSG00000001507
Gene Name integrin alpha 3
Synonyms VLA-3 alpha 3, alpha3-integrin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02020
Quality Score
Status
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94948216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 539 (V539I)
Ref Sequence ENSEMBL: ENSMUSP00000103368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]
AlphaFold Q62470
Predicted Effect probably benign
Transcript: ENSMUST00000001548
AA Change: V570I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: V570I

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Int_alpha 48 110 4.18e-7 SMART
Int_alpha 246 300 5.01e0 SMART
Int_alpha 304 361 3.07e-14 SMART
Int_alpha 366 419 4.17e-16 SMART
Int_alpha 427 483 7.57e1 SMART
low complexity region 521 534 N/A INTRINSIC
SCOP:d1m1xa3 758 984 7e-54 SMART
transmembrane domain 994 1016 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107739
AA Change: V539I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: V539I

DomainStartEndE-ValueType
Int_alpha 20 79 1.05e2 SMART
Int_alpha 215 269 5.01e0 SMART
Int_alpha 273 330 3.07e-14 SMART
Int_alpha 335 388 4.17e-16 SMART
Int_alpha 396 452 7.57e1 SMART
low complexity region 490 503 N/A INTRINSIC
low complexity region 775 789 N/A INTRINSIC
transmembrane domain 963 985 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120375
AA Change: V570I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: V570I

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Int_alpha 48 110 4.18e-7 SMART
Int_alpha 246 300 5.01e0 SMART
Int_alpha 304 361 3.07e-14 SMART
Int_alpha 366 419 4.17e-16 SMART
Int_alpha 427 483 7.57e1 SMART
low complexity region 521 534 N/A INTRINSIC
SCOP:d1m1xa3 758 984 2e-53 SMART
transmembrane domain 994 1016 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141693
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a subunit of integrin family of cell surface proteins. The encoded protein undergoes post-translational processing to form a disulfide bond-linked dimer comprised of heavy and light chains. At the cell surface, the encoded protein non-covalently associates with the integrin beta-1 subunit to form a heterodimer that interacts with many extracellular matrix proteins including fibronectin and laminin. Mice lacking the encoded protein die during the first day after birth due to severe abnormalities in kidneys. Mice lacking the encoded protein specifically in the basal layer of epidermis display several skin defects and accelerated wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the kidney and submandibular gland, decreased bronchial branching of the lungs, skin blisters at the dermal-epidermal junction, abnormal layering of the cerebral cortex and perinatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A T 8: 84,659,577 (GRCm39) Q711L probably benign Het
Atg9b A C 5: 24,596,056 (GRCm39) N205K possibly damaging Het
Brinp3 T C 1: 146,777,865 (GRCm39) probably benign Het
Cdh20 A G 1: 110,066,078 (GRCm39) Y784C probably damaging Het
Csmd2 T A 4: 128,453,672 (GRCm39) D142E probably damaging Het
Dscam A G 16: 96,517,269 (GRCm39) L880P probably damaging Het
Gm14496 A G 2: 181,637,882 (GRCm39) T319A possibly damaging Het
Hr A G 14: 70,793,877 (GRCm39) T46A probably benign Het
Ighv1-7 A G 12: 114,502,345 (GRCm39) C41R probably damaging Het
Kif13a T A 13: 46,947,495 (GRCm39) I830F probably benign Het
Mphosph9 T C 5: 124,397,013 (GRCm39) N1110S probably damaging Het
Or5m11b A G 2: 85,805,579 (GRCm39) probably benign Het
Pdia3 G A 2: 121,266,900 (GRCm39) probably null Het
Phpt1 T C 2: 25,464,221 (GRCm39) I87M probably damaging Het
Psd3 T C 8: 68,426,822 (GRCm39) probably benign Het
Ranbp2 A G 10: 58,315,769 (GRCm39) E2163G probably damaging Het
Ranbp6 T C 19: 29,787,176 (GRCm39) I1059V probably benign Het
Runx2 C T 17: 44,969,486 (GRCm39) G253D probably damaging Het
S100a5 A G 3: 90,517,121 (GRCm39) probably benign Het
Skint1 T A 4: 111,882,724 (GRCm39) M256K probably benign Het
Slc9a3 C T 13: 74,306,967 (GRCm39) A364V probably damaging Het
Srsf3-ps C A 11: 98,516,335 (GRCm39) V13L probably damaging Het
Trip11 C T 12: 101,850,572 (GRCm39) R879Q probably damaging Het
Tubgcp3 T C 8: 12,687,780 (GRCm39) T588A possibly damaging Het
Vmn2r100 T A 17: 19,725,200 (GRCm39) V43E possibly damaging Het
Washc4 T C 10: 83,400,336 (GRCm39) S421P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wwp2 G A 8: 108,283,127 (GRCm39) R354Q probably damaging Het
Zfp804b T A 5: 6,819,118 (GRCm39) Q1315L probably damaging Het
Other mutations in Itga3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Itga3 APN 11 94,956,712 (GRCm39) missense probably damaging 1.00
IGL02413:Itga3 APN 11 94,959,597 (GRCm39) missense probably damaging 1.00
IGL02562:Itga3 APN 11 94,959,619 (GRCm39) missense probably benign 0.02
PIT4508001:Itga3 UTSW 11 94,946,719 (GRCm39) missense probably benign 0.20
R0485:Itga3 UTSW 11 94,952,796 (GRCm39) missense probably benign 0.05
R1548:Itga3 UTSW 11 94,937,745 (GRCm39) critical splice donor site probably null
R1677:Itga3 UTSW 11 94,946,585 (GRCm39) missense probably damaging 0.96
R2062:Itga3 UTSW 11 94,944,902 (GRCm39) missense possibly damaging 0.92
R2088:Itga3 UTSW 11 94,943,320 (GRCm39) missense probably benign 0.10
R2679:Itga3 UTSW 11 94,959,136 (GRCm39) splice site probably benign
R3697:Itga3 UTSW 11 94,953,551 (GRCm39) missense probably benign 0.00
R3839:Itga3 UTSW 11 94,948,095 (GRCm39) critical splice donor site probably null
R4210:Itga3 UTSW 11 94,953,449 (GRCm39) missense probably benign 0.00
R4533:Itga3 UTSW 11 94,948,119 (GRCm39) missense probably benign 0.15
R4849:Itga3 UTSW 11 94,967,097 (GRCm39) missense probably benign
R4863:Itga3 UTSW 11 94,952,793 (GRCm39) missense probably damaging 1.00
R4889:Itga3 UTSW 11 94,959,127 (GRCm39) missense probably benign 0.13
R5218:Itga3 UTSW 11 94,953,574 (GRCm39) missense probably benign 0.01
R6046:Itga3 UTSW 11 94,953,541 (GRCm39) missense probably benign 0.28
R6087:Itga3 UTSW 11 94,943,269 (GRCm39) critical splice donor site probably null
R6210:Itga3 UTSW 11 94,959,717 (GRCm39) intron probably benign
R6341:Itga3 UTSW 11 94,946,677 (GRCm39) splice site probably null
R6666:Itga3 UTSW 11 94,956,652 (GRCm39) missense probably benign 0.00
R6998:Itga3 UTSW 11 94,942,288 (GRCm39) missense probably benign 0.00
R7106:Itga3 UTSW 11 94,946,699 (GRCm39) missense probably benign 0.00
R7164:Itga3 UTSW 11 94,943,305 (GRCm39) missense possibly damaging 0.85
R7267:Itga3 UTSW 11 94,967,188 (GRCm39) intron probably benign
R7421:Itga3 UTSW 11 94,959,681 (GRCm39) missense probably benign 0.20
R7514:Itga3 UTSW 11 94,956,722 (GRCm39) nonsense probably null
R7533:Itga3 UTSW 11 94,937,344 (GRCm39) missense probably benign 0.45
R7736:Itga3 UTSW 11 94,967,029 (GRCm39) missense probably damaging 1.00
R8145:Itga3 UTSW 11 94,943,290 (GRCm39) missense probably damaging 1.00
R8303:Itga3 UTSW 11 94,953,466 (GRCm39) missense probably benign 0.42
R8459:Itga3 UTSW 11 94,959,633 (GRCm39) missense probably benign
R8464:Itga3 UTSW 11 94,953,566 (GRCm39) missense probably benign 0.28
R8951:Itga3 UTSW 11 94,944,911 (GRCm39) missense probably damaging 0.99
R8984:Itga3 UTSW 11 94,953,391 (GRCm39) missense probably damaging 1.00
R9262:Itga3 UTSW 11 94,956,625 (GRCm39) missense probably benign 0.09
R9695:Itga3 UTSW 11 94,946,520 (GRCm39) critical splice donor site probably null
Z1177:Itga3 UTSW 11 94,947,600 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07