Incidental Mutation 'IGL01958:Itga9'
ID 181484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga9
Ensembl Gene ENSMUSG00000039115
Gene Name integrin alpha 9
Synonyms D9Ertd428e, 6720458D17Rik, 2610002H11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01958
Quality Score
Status
Chromosome 9
Chromosomal Location 118435777-118730071 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 118465562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044165]
AlphaFold B8JK39
Predicted Effect probably benign
Transcript: ENSMUST00000044165
SMART Domains Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Int_alpha 45 105 8.95e-7 SMART
low complexity region 181 191 N/A INTRINSIC
Int_alpha 244 297 2.12e-8 SMART
Int_alpha 301 356 1.68e-11 SMART
Int_alpha 361 416 2.9e-15 SMART
Int_alpha 423 476 1.11e-2 SMART
SCOP:d1m1xa2 626 766 3e-32 SMART
SCOP:d1m1xa3 769 970 1e-39 SMART
transmembrane domain 981 1003 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Itga9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Itga9 APN 9 118,598,227 (GRCm39) start codon destroyed probably null 0.02
IGL01396:Itga9 APN 9 118,436,191 (GRCm39) splice site probably benign
IGL01476:Itga9 APN 9 118,436,179 (GRCm39) missense probably damaging 1.00
IGL01573:Itga9 APN 9 118,706,298 (GRCm39) splice site probably benign
IGL02060:Itga9 APN 9 118,490,500 (GRCm39) missense probably damaging 1.00
IGL02146:Itga9 APN 9 118,663,400 (GRCm39) missense possibly damaging 0.50
IGL02391:Itga9 APN 9 118,679,873 (GRCm39) missense probably benign 0.19
IGL02947:Itga9 APN 9 118,487,601 (GRCm39) missense probably damaging 1.00
IGL03014:Itga9 UTSW 9 118,457,212 (GRCm39) missense probably benign
R0052:Itga9 UTSW 9 118,465,617 (GRCm39) missense probably damaging 1.00
R0052:Itga9 UTSW 9 118,465,617 (GRCm39) missense probably damaging 1.00
R0142:Itga9 UTSW 9 118,465,654 (GRCm39) missense probably damaging 0.96
R0179:Itga9 UTSW 9 118,490,454 (GRCm39) missense probably benign 0.11
R0207:Itga9 UTSW 9 118,598,321 (GRCm39) splice site probably benign
R0364:Itga9 UTSW 9 118,670,210 (GRCm39) missense probably benign
R0458:Itga9 UTSW 9 118,510,096 (GRCm39) critical splice donor site probably null
R1486:Itga9 UTSW 9 118,455,518 (GRCm39) missense probably damaging 0.98
R1589:Itga9 UTSW 9 118,436,185 (GRCm39) critical splice donor site probably null
R1620:Itga9 UTSW 9 118,672,570 (GRCm39) missense probably benign 0.00
R1711:Itga9 UTSW 9 118,527,529 (GRCm39) missense probably benign 0.00
R1721:Itga9 UTSW 9 118,527,374 (GRCm39) splice site probably benign
R2064:Itga9 UTSW 9 118,636,361 (GRCm39) missense probably damaging 0.99
R2201:Itga9 UTSW 9 118,706,183 (GRCm39) splice site probably benign
R2851:Itga9 UTSW 9 118,465,604 (GRCm39) missense probably damaging 0.98
R2853:Itga9 UTSW 9 118,465,604 (GRCm39) missense probably damaging 0.98
R3962:Itga9 UTSW 9 118,457,254 (GRCm39) missense possibly damaging 0.57
R4180:Itga9 UTSW 9 118,436,146 (GRCm39) missense probably damaging 1.00
R4597:Itga9 UTSW 9 118,672,582 (GRCm39) missense probably damaging 1.00
R4716:Itga9 UTSW 9 118,510,826 (GRCm39) missense probably damaging 0.98
R4929:Itga9 UTSW 9 118,636,317 (GRCm39) missense probably damaging 1.00
R5002:Itga9 UTSW 9 118,492,966 (GRCm39) nonsense probably null
R5279:Itga9 UTSW 9 118,457,273 (GRCm39) missense probably damaging 1.00
R5542:Itga9 UTSW 9 118,672,729 (GRCm39) missense possibly damaging 0.86
R5869:Itga9 UTSW 9 118,492,957 (GRCm39) missense probably damaging 1.00
R6372:Itga9 UTSW 9 118,726,389 (GRCm39) missense probably damaging 1.00
R6470:Itga9 UTSW 9 118,726,335 (GRCm39) missense probably damaging 0.99
R6581:Itga9 UTSW 9 118,487,632 (GRCm39) missense probably benign 0.00
R6919:Itga9 UTSW 9 118,716,883 (GRCm39) missense probably damaging 1.00
R7034:Itga9 UTSW 9 118,527,433 (GRCm39) missense probably benign 0.00
R7036:Itga9 UTSW 9 118,527,433 (GRCm39) missense probably benign 0.00
R7043:Itga9 UTSW 9 118,598,184 (GRCm39) missense probably damaging 0.96
R7237:Itga9 UTSW 9 118,465,670 (GRCm39) missense probably benign 0.09
R7491:Itga9 UTSW 9 118,598,179 (GRCm39) missense probably damaging 0.99
R7629:Itga9 UTSW 9 118,527,514 (GRCm39) missense probably benign 0.00
R7774:Itga9 UTSW 9 118,700,968 (GRCm39) missense probably damaging 1.00
R7782:Itga9 UTSW 9 118,672,712 (GRCm39) missense
R7789:Itga9 UTSW 9 118,487,564 (GRCm39) missense possibly damaging 0.80
R7904:Itga9 UTSW 9 118,706,294 (GRCm39) splice site probably null
R8086:Itga9 UTSW 9 118,679,869 (GRCm39) missense probably benign
R8158:Itga9 UTSW 9 118,706,211 (GRCm39) missense probably damaging 0.99
R8204:Itga9 UTSW 9 118,700,989 (GRCm39) missense probably damaging 1.00
R8895:Itga9 UTSW 9 118,510,835 (GRCm39) missense probably damaging 1.00
R9074:Itga9 UTSW 9 118,636,344 (GRCm39) missense probably damaging 1.00
R9090:Itga9 UTSW 9 118,500,859 (GRCm39) missense possibly damaging 0.93
R9271:Itga9 UTSW 9 118,500,859 (GRCm39) missense possibly damaging 0.93
R9318:Itga9 UTSW 9 118,455,536 (GRCm39) missense probably benign 0.03
R9434:Itga9 UTSW 9 118,636,315 (GRCm39) missense probably damaging 1.00
Z1176:Itga9 UTSW 9 118,716,907 (GRCm39) missense probably damaging 1.00
Z1176:Itga9 UTSW 9 118,672,598 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07