Incidental Mutation 'IGL00926:Itga3'
ID 28531
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 # IGL00926
Quality Score
Status
Chromosome 11
Chromosomal Location 94935300-94967627 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94956712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 122 (H122Y)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001548] [ENSMUST00000107739] [ENSMUST00000120375]
AlphaFold Q62470
Predicted Effect probably benign
Transcript: ENSMUST00000001548
AA Change: H181Y

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001548
Gene: ENSMUSG00000001507
AA Change: H181Y

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 possibly damaging
Transcript: ENSMUST00000107739
AA Change: H150Y

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103368
Gene: ENSMUSG00000001507
AA Change: H150Y

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: H181Y

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113556
Gene: ENSMUSG00000001507
AA Change: H181Y

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 probably damaging
Transcript: ENSMUST00000145671
AA Change: H122Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115970
Gene: ENSMUSG00000001507
AA Change: H122Y

DomainStartEndE-ValueType
Blast:Int_alpha 6 52 3e-22 BLAST
SCOP:d1m1xa4 8 182 3e-24 SMART
PDB:4IRZ|A 12 168 2e-8 PDB
Blast:Int_alpha 55 88 2e-6 BLAST
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
Agtr2 A T X: 21,352,524 (GRCm39) M53L probably benign Het
Apob T C 12: 8,065,421 (GRCm39) V4097A probably benign Het
Brip1 T C 11: 86,039,227 (GRCm39) K436E possibly damaging Het
Cadps C A 14: 12,491,795 (GRCm38) R785L probably damaging Het
Cavin2 A G 1: 51,340,036 (GRCm39) K238E probably damaging Het
Ccdc158 G A 5: 92,798,626 (GRCm39) T358I probably damaging Het
Cds1 A G 5: 101,957,767 (GRCm39) I246M probably damaging Het
Cep19 A G 16: 31,925,898 (GRCm39) E102G probably damaging Het
Clec4a1 T A 6: 122,899,014 (GRCm39) C28S possibly damaging Het
Csmd3 T A 15: 47,574,360 (GRCm39) Y2082F possibly damaging Het
Fbn1 T A 2: 125,160,962 (GRCm39) T2193S possibly damaging Het
Gm24124 G T 19: 13,611,421 (GRCm39) probably benign Het
Gpbp1l1 T A 4: 116,444,710 (GRCm39) probably null Het
Helq T C 5: 100,912,948 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Mettl18 T A 1: 163,823,795 (GRCm39) S39T possibly damaging Het
Ndst4 A T 3: 125,355,102 (GRCm39) T337S probably benign Het
Neb A G 2: 52,160,329 (GRCm39) probably benign Het
Nrbp1 T C 5: 31,401,141 (GRCm39) S6P probably benign Het
Oprk1 A G 1: 5,669,128 (GRCm39) I191M probably damaging Het
Or2a56 A T 6: 42,933,370 (GRCm39) probably benign Het
Or51k2 A G 7: 103,596,204 (GRCm39) T144A probably benign Het
Or52z13 A G 7: 103,247,369 (GRCm39) N282S possibly damaging Het
Psap T C 10: 60,128,316 (GRCm39) V69A probably damaging Het
Scn7a C T 2: 66,514,475 (GRCm39) E1100K probably benign Het
Tmem145 A G 7: 25,014,155 (GRCm39) N423S possibly damaging Het
Tpd52 A T 3: 9,012,692 (GRCm39) probably null Het
Trmt13 G A 3: 116,383,884 (GRCm39) Q58* probably null Het
Ttn T C 2: 76,589,125 (GRCm39) E21346G probably damaging Het
Other mutations in Itga3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Itga3 APN 11 94,948,216 (GRCm39) missense probably benign 0.02
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 2013-04-17