Incidental Mutation 'R7237:Itga9'
ID 562910
Institutional Source Beutler Lab
Gene Symbol Itga9
Ensembl Gene ENSMUSG00000039115
Gene Name integrin alpha 9
Synonyms D9Ertd428e, 6720458D17Rik, 2610002H11Rik
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 118435777-118730071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118465670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 175 (K175E)
Ref Sequence ENSEMBL: ENSMUSP00000044227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044165]
AlphaFold B8JK39
Predicted Effect probably benign
Transcript: ENSMUST00000044165
AA Change: K175E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: K175E

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably damaging 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
IGL01958:Itga9 APN 9 118,465,562 (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
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
Predicted Primers PCR Primer
(F):5'- TGACTCTCAGGAGCTGGTTC -3'
(R):5'- GTTGCCTCTTCCATGGACATG -3'

Sequencing Primer
(F):5'- GACTCTCAGGAGCTGGTTCTTCTC -3'
(R):5'- CATGACATTGATGCCAGAGTCGATC -3'
Posted On 2019-06-26