Incidental Mutation 'IGL00089:Itgax'
ID 1439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL00089
Quality Score
Status
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 127734498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 352 (M352R)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053] [ENSMUST00000205460]
AlphaFold Q9QXH4
Predicted Effect probably damaging
Transcript: ENSMUST00000033053
AA Change: M352R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: M352R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Int_alpha 33 83 1.28e1 SMART
VWA 150 331 8.36e-43 SMART
Int_alpha 402 451 3.67e-3 SMART
Int_alpha 455 512 1.29e-7 SMART
Int_alpha 518 574 5.72e-14 SMART
Int_alpha 581 635 1.55e-1 SMART
transmembrane domain 1115 1137 N/A INTRINSIC
Pfam:Integrin_alpha 1138 1152 6.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205408
Predicted Effect probably benign
Transcript: ENSMUST00000205460
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 the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, decreased susceptibility to experimental autoimmune encephalomyelitis (EAE), increased T cell proliferation, and an abnormal pattern of cytokine production during EAE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Anpep A T 7: 79,491,734 (GRCm39) L89Q probably damaging Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
Atp6v0a2 T C 5: 124,798,841 (GRCm39) F849L probably benign Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt78 G A 15: 101,855,945 (GRCm39) T622I probably benign Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nlrp14 T C 7: 106,791,709 (GRCm39) L139P possibly damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Patj T C 4: 98,353,343 (GRCm39) F629L probably damaging Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Itgax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Itgax APN 7 127,747,481 (GRCm39) missense possibly damaging 0.69
IGL01155:Itgax APN 7 127,744,207 (GRCm39) missense probably benign 0.00
IGL01461:Itgax APN 7 127,734,190 (GRCm39) missense probably damaging 1.00
IGL01508:Itgax APN 7 127,743,990 (GRCm39) missense probably damaging 1.00
IGL01549:Itgax APN 7 127,730,378 (GRCm39) splice site probably null
IGL01864:Itgax APN 7 127,732,935 (GRCm39) missense probably benign 0.00
IGL02094:Itgax APN 7 127,730,645 (GRCm39) missense probably damaging 1.00
IGL02364:Itgax APN 7 127,739,154 (GRCm39) missense possibly damaging 0.89
IGL02969:Itgax APN 7 127,748,295 (GRCm39) missense probably benign
IGL03406:Itgax APN 7 127,748,370 (GRCm39) missense possibly damaging 0.93
Adendritic UTSW 7 127,747,744 (GRCm39) nonsense probably null
PIT4651001:Itgax UTSW 7 127,748,282 (GRCm39) missense probably benign 0.11
R0366:Itgax UTSW 7 127,748,261 (GRCm39) splice site probably benign
R0763:Itgax UTSW 7 127,747,112 (GRCm39) splice site probably benign
R1072:Itgax UTSW 7 127,749,316 (GRCm39) missense probably damaging 0.96
R1659:Itgax UTSW 7 127,730,063 (GRCm39) missense probably benign 0.15
R2019:Itgax UTSW 7 127,747,698 (GRCm39) missense probably benign
R2418:Itgax UTSW 7 127,741,505 (GRCm39) missense probably damaging 0.98
R3027:Itgax UTSW 7 127,747,744 (GRCm39) nonsense probably null
R3846:Itgax UTSW 7 127,732,939 (GRCm39) missense probably damaging 1.00
R3938:Itgax UTSW 7 127,735,445 (GRCm39) missense possibly damaging 0.73
R4021:Itgax UTSW 7 127,732,311 (GRCm39) critical splice donor site probably null
R4027:Itgax UTSW 7 127,740,438 (GRCm39) missense possibly damaging 0.75
R4163:Itgax UTSW 7 127,743,872 (GRCm39) missense probably benign 0.00
R4923:Itgax UTSW 7 127,747,700 (GRCm39) missense probably benign
R5259:Itgax UTSW 7 127,747,450 (GRCm39) missense probably damaging 0.99
R5333:Itgax UTSW 7 127,741,455 (GRCm39) missense probably damaging 1.00
R5347:Itgax UTSW 7 127,740,474 (GRCm39) missense probably benign 0.08
R5679:Itgax UTSW 7 127,734,162 (GRCm39) missense probably benign 0.00
R5725:Itgax UTSW 7 127,747,033 (GRCm39) missense possibly damaging 0.63
R5733:Itgax UTSW 7 127,739,647 (GRCm39) missense probably damaging 0.99
R5750:Itgax UTSW 7 127,743,878 (GRCm39) missense probably benign 0.32
R5964:Itgax UTSW 7 127,739,619 (GRCm39) missense probably damaging 1.00
R6004:Itgax UTSW 7 127,730,624 (GRCm39) missense probably damaging 0.96
R6168:Itgax UTSW 7 127,732,269 (GRCm39) missense probably damaging 0.99
R6212:Itgax UTSW 7 127,747,025 (GRCm39) missense probably benign 0.16
R6212:Itgax UTSW 7 127,729,504 (GRCm39) missense possibly damaging 0.52
R6480:Itgax UTSW 7 127,747,771 (GRCm39) missense probably benign 0.12
R6484:Itgax UTSW 7 127,732,890 (GRCm39) missense probably benign 0.13
R6796:Itgax UTSW 7 127,734,236 (GRCm39) missense probably damaging 1.00
R6844:Itgax UTSW 7 127,747,106 (GRCm39) splice site probably null
R7287:Itgax UTSW 7 127,747,677 (GRCm39) missense probably damaging 1.00
R7365:Itgax UTSW 7 127,734,481 (GRCm39) missense probably damaging 1.00
R7421:Itgax UTSW 7 127,739,604 (GRCm39) missense probably damaging 1.00
R7599:Itgax UTSW 7 127,747,262 (GRCm39) missense probably damaging 0.99
R7710:Itgax UTSW 7 127,735,028 (GRCm39) missense probably benign 0.04
R7964:Itgax UTSW 7 127,739,590 (GRCm39) critical splice acceptor site probably null
R8220:Itgax UTSW 7 127,730,090 (GRCm39) missense probably benign 0.00
R8730:Itgax UTSW 7 127,739,066 (GRCm39) critical splice acceptor site probably null
R8742:Itgax UTSW 7 127,743,795 (GRCm39) missense probably benign 0.28
R8812:Itgax UTSW 7 127,732,979 (GRCm39) missense probably damaging 1.00
R8871:Itgax UTSW 7 127,735,223 (GRCm39) missense probably damaging 1.00
R9147:Itgax UTSW 7 127,747,913 (GRCm39) missense possibly damaging 0.74
R9149:Itgax UTSW 7 127,730,641 (GRCm39) missense probably benign 0.01
R9310:Itgax UTSW 7 127,741,432 (GRCm39) nonsense probably null
R9376:Itgax UTSW 7 127,747,935 (GRCm39) missense possibly damaging 0.94
R9377:Itgax UTSW 7 127,732,849 (GRCm39) missense probably benign 0.03
R9641:Itgax UTSW 7 127,741,152 (GRCm39) missense probably damaging 1.00
R9650:Itgax UTSW 7 127,734,935 (GRCm39) missense probably benign 0.24
R9709:Itgax UTSW 7 127,735,500 (GRCm39) missense probably damaging 1.00
X0061:Itgax UTSW 7 127,728,779 (GRCm39) start gained probably benign
Z1176:Itgax UTSW 7 127,744,044 (GRCm39) missense probably benign 0.24
Z1177:Itgax UTSW 7 127,747,234 (GRCm39) missense probably benign 0.04
Posted On 2011-07-12