Incidental Mutation 'R7034:Itga9'
ID 546541
Institutional Source Beutler Lab
Gene Symbol Itga9
Ensembl Gene ENSMUSG00000039115
Gene Name integrin alpha 9
Synonyms D9Ertd428e, 6720458D17Rik, 2610002H11Rik
MMRRC Submission 045135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 118435777-118730071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118527433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 528 (L528P)
Ref Sequence ENSEMBL: ENSMUSP00000044227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044165]
AlphaFold B8JK39
Predicted Effect probably benign
Transcript: ENSMUST00000044165
AA Change: L528P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: L528P

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,445,118 (GRCm39) probably null Het
Adamts1 T A 16: 85,599,634 (GRCm39) probably benign Het
Aff4 A G 11: 53,299,236 (GRCm39) K979E probably damaging Het
Aftph A T 11: 20,642,498 (GRCm39) M845K probably damaging Het
Akt2 T C 7: 27,336,437 (GRCm39) probably null Het
Aldh1a7 A T 19: 20,685,542 (GRCm39) L336Q possibly damaging Het
Ank3 C T 10: 69,835,209 (GRCm39) T680M probably damaging Het
Apeh T C 9: 107,971,470 (GRCm39) E59G possibly damaging Het
Armc8 C T 9: 99,366,018 (GRCm39) probably null Het
Armh3 A G 19: 45,953,688 (GRCm39) I195T probably damaging Het
Atp2b1 C T 10: 98,823,172 (GRCm39) T244I probably damaging Het
Btaf1 C A 19: 36,981,869 (GRCm39) T1633K probably benign Het
Cacng8 A G 7: 3,463,819 (GRCm39) S324G probably benign Het
Calcr T A 6: 3,692,543 (GRCm39) Q400L probably damaging Het
Caprin2 G A 6: 148,749,703 (GRCm39) P536S possibly damaging Het
Ccdc54 A T 16: 50,410,951 (GRCm39) M105K probably benign Het
Ccna1 T C 3: 54,953,460 (GRCm39) E381G possibly damaging Het
Cd2ap A T 17: 43,109,490 (GRCm39) L623Q probably damaging Het
Cdkl3 A G 11: 51,918,042 (GRCm39) E415G probably benign Het
Chd5 C A 4: 152,445,398 (GRCm39) L430I possibly damaging Het
Clspn G A 4: 126,474,775 (GRCm39) E975K possibly damaging Het
Cobl C A 11: 12,204,177 (GRCm39) V835F probably damaging Het
D430041D05Rik C A 2: 104,022,883 (GRCm39) R1037L probably damaging Het
Derl1 A G 15: 57,742,443 (GRCm39) probably null Het
Dhrs9 T G 2: 69,223,520 (GRCm39) N89K probably benign Het
Erich1 A G 8: 14,114,330 (GRCm39) I60T probably benign Het
Fam184a A T 10: 53,570,910 (GRCm39) S408T possibly damaging Het
Fcgr4 T A 1: 170,847,657 (GRCm39) M85K probably benign Het
Foxj3 A G 4: 119,476,497 (GRCm39) E259G probably damaging Het
Galnt11 T C 5: 25,463,811 (GRCm39) I361T probably damaging Het
Gck A G 11: 5,851,747 (GRCm39) S441P probably damaging Het
Gdap1l1 G T 2: 163,288,065 (GRCm39) V98F probably damaging Het
Gramd1a A G 7: 30,832,181 (GRCm39) probably null Het
H2ac21 C T 3: 96,127,304 (GRCm39) Q25* probably null Het
Herc3 A T 6: 58,853,840 (GRCm39) M629L probably benign Het
Hoxc12 G A 15: 102,846,795 (GRCm39) G229D probably damaging Het
Hycc2 T A 1: 58,574,696 (GRCm39) M282L probably benign Het
Krt39 A C 11: 99,412,062 (GRCm39) V8G probably benign Het
Krt71 A G 15: 101,646,772 (GRCm39) I312T probably benign Het
Lrrc37 T A 11: 103,506,638 (GRCm39) probably benign Het
Mllt11 A G 3: 95,127,744 (GRCm39) Y9H probably damaging Het
Mrgpra3 G T 7: 47,239,838 (GRCm39) N29K possibly damaging Het
Mug1 A G 6: 121,850,603 (GRCm39) T700A probably benign Het
Myl1 T C 1: 66,969,395 (GRCm39) N79S probably damaging Het
Myo18b G A 5: 112,871,770 (GRCm39) Q2104* probably null Het
Nalf1 G A 8: 9,820,589 (GRCm39) P144S possibly damaging Het
Ndufs2 T C 1: 171,065,877 (GRCm39) D256G probably benign Het
Nek5 T C 8: 22,597,739 (GRCm39) N280S probably benign Het
Nwd2 A T 5: 63,962,258 (GRCm39) N614I probably damaging Het
Or6c88 G A 10: 129,406,941 (GRCm39) C139Y possibly damaging Het
Parp1 G T 1: 180,425,817 (GRCm39) K849N possibly damaging Het
Pcnx2 T C 8: 126,512,041 (GRCm39) T1422A probably damaging Het
Plce1 A G 19: 38,727,801 (GRCm39) N1520S probably damaging Het
Ppcdc T C 9: 57,322,453 (GRCm39) T149A probably damaging Het
Ppl A G 16: 4,905,366 (GRCm39) V1643A probably benign Het
Pramel23 A T 4: 143,423,898 (GRCm39) I297N probably damaging Het
Prrx1 T A 1: 163,075,907 (GRCm39) M220L probably benign Het
Pspc1 A C 14: 56,996,085 (GRCm39) probably null Het
Ptpn20 A G 14: 33,336,392 (GRCm39) *44W probably null Het
Qars1 T A 9: 108,391,976 (GRCm39) V83E probably damaging Het
Rbm33 T C 5: 28,599,496 (GRCm39) M956T unknown Het
Sash1 C A 10: 8,605,847 (GRCm39) E848* probably null Het
Scai T A 2: 39,011,147 (GRCm39) Y163F probably damaging Het
Serpinf2 A T 11: 75,329,244 (GRCm39) probably benign Het
Sgo2b T A 8: 64,379,868 (GRCm39) H988L probably benign Het
Sh2b2 G A 5: 136,247,739 (GRCm39) T604I probably benign Het
Skint4 A T 4: 112,015,281 (GRCm39) I449F possibly damaging Het
Slc30a2 A G 4: 134,074,653 (GRCm39) I88V possibly damaging Het
Smug1 A G 15: 103,064,369 (GRCm39) L184P probably damaging Het
Spatc1 A G 15: 76,168,080 (GRCm39) T180A probably benign Het
Ssr1 A T 13: 38,178,001 (GRCm39) L20Q probably null Het
Supt4a A G 11: 87,634,084 (GRCm39) E100G probably damaging Het
Teddm2 T C 1: 153,726,320 (GRCm39) I132V probably benign Het
Tmem131 C T 1: 36,832,054 (GRCm39) G1861E possibly damaging Het
Tpr A T 1: 150,299,358 (GRCm39) H1186L probably benign Het
Trim34b A T 7: 103,978,743 (GRCm39) probably benign Het
Trpm2 T C 10: 77,748,426 (GRCm39) M1415V probably benign Het
Ttll12 A G 15: 83,471,086 (GRCm39) F264S probably benign Het
Vmn2r59 T C 7: 41,695,644 (GRCm39) E256G probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Vps35l T C 7: 118,372,315 (GRCm39) S290P probably damaging Het
Wdfy3 G A 5: 102,055,384 (GRCm39) T1562I probably damaging Het
Ybey T C 10: 76,304,197 (GRCm39) S2G possibly damaging Het
Zfp346 A T 13: 55,280,200 (GRCm39) Q308L 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCTTCCATAGGCTGACTACAGG -3'
(R):5'- TGGAAGTCCGAGGCTACATAATG -3'

Sequencing Primer
(F):5'- CTGACTACAGGCTTCTGAGAAGGTC -3'
(R):5'- TCCGAGGCTACATAATGAAACAAAAG -3'
Posted On 2019-05-13