Incidental Mutation 'IGL00089:Itgax'
ID1439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Nameintegrin alpha X
SynonymsCd11c, CD11C (p150) alpha polypeptide
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL00089
Quality Score
Status
Chromosome7
Chromosomal Location128129547-128150657 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 128135326 bp
ZygosityHeterozygous
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]
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
4931406P16Rik A T 7: 34,245,987 probably benign Het
A430033K04Rik T C 5: 138,647,592 S580P probably damaging Het
Abca12 T A 1: 71,303,541 I927F possibly damaging Het
Abca8a A G 11: 110,050,939 V1168A possibly damaging Het
Abcc1 T A 16: 14,460,983 N1052K probably benign Het
Adamts13 C A 2: 27,005,361 Q1155K probably benign Het
Adgre4 A T 17: 55,791,915 probably benign Het
AF529169 C T 9: 89,601,800 V515I probably benign Het
Ahsa2 T C 11: 23,496,837 E42G probably damaging Het
Ankk1 T G 9: 49,421,900 I95L probably benign Het
Anpep A T 7: 79,841,986 L89Q probably damaging Het
Arl5a T C 2: 52,416,071 N83S probably benign Het
Atp11b A G 3: 35,809,376 probably null Het
Atp6v0a2 T C 5: 124,721,777 F849L probably benign Het
BC106179 A G 16: 23,224,272 probably benign Het
Bcl2a1c T C 9: 114,330,540 *129Q probably null Het
C2cd5 T C 6: 143,017,945 I888V probably null Het
Calb2 A T 8: 110,145,671 L227Q probably damaging Het
Casc4 T C 2: 121,910,793 probably benign Het
Ccp110 G T 7: 118,722,424 C434F possibly damaging Het
Cd209c A T 8: 3,940,339 C160S probably damaging Het
Chmp1a A G 8: 123,209,019 probably null Het
Col6a6 T A 9: 105,758,191 probably null Het
Cyld T A 8: 88,705,457 C28S probably benign Het
Dapk1 A T 13: 60,761,040 I1156F probably benign Het
Dennd1a A T 2: 38,243,442 Y16* probably null Het
Dennd3 T G 15: 73,567,133 S1117A probably benign Het
Dgka A T 10: 128,733,086 D203E probably damaging Het
Dhx15 G T 5: 52,166,775 L392I probably damaging Het
Dnah10 A G 5: 124,746,616 D567G probably benign Het
Eaf1 T A 14: 31,504,526 probably null Het
Efnb2 T C 8: 8,660,589 D9G probably benign Het
Fcrla A T 1: 170,927,498 C15S probably benign Het
Flt3 T C 5: 147,354,876 N588S probably damaging Het
Gm10146 A T 10: 78,393,473 noncoding transcript Het
Gnpat T C 8: 124,876,914 probably benign Het
Gpr39 A C 1: 125,872,731 R406S probably benign Het
H2-Aa T C 17: 34,284,530 H31R probably damaging Het
Helz2 G T 2: 181,229,702 R2706S probably damaging Het
Hip1r T A 5: 123,989,735 probably null Het
Hnf4g A G 3: 3,648,082 T239A probably benign Het
Hps5 A T 7: 46,775,938 I413N probably damaging Het
Hspg2 G A 4: 137,528,820 G1413R probably damaging Het
Katna1 T A 10: 7,762,804 M433K probably damaging Het
Kcna4 T G 2: 107,295,862 S314A probably damaging Het
Kif13b C T 14: 64,669,693 T42I possibly damaging Het
Krt78 G A 15: 101,947,510 T622I probably benign Het
Krt86 T A 15: 101,476,515 M263K possibly damaging Het
Lap3 A G 5: 45,506,169 probably benign Het
Lepr A T 4: 101,815,035 R1085S probably benign Het
Lmcd1 A G 6: 112,329,808 I314V probably benign Het
Luc7l2 T C 6: 38,608,170 probably benign Het
Mcm2 T A 6: 88,893,401 M117L probably benign Het
Mdh2 T C 5: 135,786,284 Y133H probably damaging Het
Mlkl T A 8: 111,319,428 R317* probably null Het
Mrps34 T C 17: 24,895,370 L68P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo18a A G 11: 77,847,938 E1299G probably damaging Het
Nlrp14 T C 7: 107,192,502 L139P possibly damaging Het
Nudcd2 A G 11: 40,736,586 D86G probably damaging Het
Olfr1212 T A 2: 88,958,766 I100N probably damaging Het
Olfr1318 A T 2: 112,156,067 M39L probably benign Het
Olfr819 T A 10: 129,965,804 R293W probably damaging Het
Patj T C 4: 98,465,106 F629L probably damaging Het
Rad23a A G 8: 84,835,895 F280L probably damaging Het
Ralgapa1 C A 12: 55,722,773 G811V probably damaging Het
St18 A G 1: 6,802,572 D177G probably benign Het
Sult1c2 A C 17: 53,833,119 Y159* probably null Het
Surf6 T A 2: 26,893,069 probably null Het
Susd6 T G 12: 80,870,067 probably benign Het
Sypl2 G A 3: 108,226,426 probably benign Het
Ubr5 A T 15: 37,984,036 F2289Y probably damaging Het
Vcl T C 14: 20,987,003 I223T probably benign Het
Vmn1r234 C T 17: 21,229,598 T258I possibly damaging Het
Vmn2r58 T A 7: 41,864,430 K263M possibly damaging Het
Vmo1 A T 11: 70,513,598 N192K probably damaging Het
Wrnip1 A G 13: 32,816,329 N440D probably damaging Het
Zc3h4 T C 7: 16,422,234 Y264H unknown Het
Zfp639 T G 3: 32,519,753 probably null Het
Zfp831 T C 2: 174,646,285 Y918H possibly damaging Het
Other mutations in Itgax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Itgax APN 7 128148309 missense possibly damaging 0.69
IGL01155:Itgax APN 7 128145035 missense probably benign 0.00
IGL01461:Itgax APN 7 128135018 missense probably damaging 1.00
IGL01508:Itgax APN 7 128144818 missense probably damaging 1.00
IGL01549:Itgax APN 7 128131206 splice site probably null
IGL01864:Itgax APN 7 128133763 missense probably benign 0.00
IGL02094:Itgax APN 7 128131473 missense probably damaging 1.00
IGL02364:Itgax APN 7 128139982 missense possibly damaging 0.89
IGL02969:Itgax APN 7 128149123 missense probably benign
IGL03406:Itgax APN 7 128149198 missense possibly damaging 0.93
Adendritic UTSW 7 128148572 nonsense probably null
PIT4651001:Itgax UTSW 7 128149110 missense probably benign 0.11
R0366:Itgax UTSW 7 128149089 splice site probably benign
R0763:Itgax UTSW 7 128147940 splice site probably benign
R1072:Itgax UTSW 7 128150144 missense probably damaging 0.96
R1659:Itgax UTSW 7 128130891 missense probably benign 0.15
R2019:Itgax UTSW 7 128148526 missense probably benign
R2418:Itgax UTSW 7 128142333 missense probably damaging 0.98
R3027:Itgax UTSW 7 128148572 nonsense probably null
R3846:Itgax UTSW 7 128133767 missense probably damaging 1.00
R3938:Itgax UTSW 7 128136273 missense possibly damaging 0.73
R4021:Itgax UTSW 7 128133139 critical splice donor site probably null
R4027:Itgax UTSW 7 128141266 missense possibly damaging 0.75
R4163:Itgax UTSW 7 128144700 missense probably benign 0.00
R4923:Itgax UTSW 7 128148528 missense probably benign
R5259:Itgax UTSW 7 128148278 missense probably damaging 0.99
R5333:Itgax UTSW 7 128142283 missense probably damaging 1.00
R5347:Itgax UTSW 7 128141302 missense probably benign 0.08
R5679:Itgax UTSW 7 128134990 missense probably benign 0.00
R5725:Itgax UTSW 7 128147861 missense possibly damaging 0.63
R5733:Itgax UTSW 7 128140475 missense probably damaging 0.99
R5750:Itgax UTSW 7 128144706 missense probably benign 0.32
R5964:Itgax UTSW 7 128140447 missense probably damaging 1.00
R6004:Itgax UTSW 7 128131452 missense probably damaging 0.96
R6168:Itgax UTSW 7 128133097 missense probably damaging 0.99
R6212:Itgax UTSW 7 128130332 missense possibly damaging 0.52
R6212:Itgax UTSW 7 128147853 missense probably benign 0.16
R6480:Itgax UTSW 7 128148599 missense probably benign 0.12
R6484:Itgax UTSW 7 128133718 missense probably benign 0.13
R6796:Itgax UTSW 7 128135064 missense probably damaging 1.00
R6844:Itgax UTSW 7 128147934 splice site probably null
R7287:Itgax UTSW 7 128148505 missense probably damaging 1.00
R7365:Itgax UTSW 7 128135309 missense probably damaging 1.00
R7421:Itgax UTSW 7 128140432 missense probably damaging 1.00
R7599:Itgax UTSW 7 128148090 missense probably damaging 0.99
X0061:Itgax UTSW 7 128129607 start gained probably benign
Posted On2011-07-12