Incidental Mutation 'R4163:Itgax'
ID 321607
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 041006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4163 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127743872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 878 (V878F)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053]
AlphaFold Q9QXH4
Predicted Effect probably benign
Transcript: ENSMUST00000033053
AA Change: V878F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: V878F

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: ENSMUST00000206396
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,948,531 (GRCm39) noncoding transcript Het
Abca8a C T 11: 109,941,808 (GRCm39) D1154N probably benign Het
Adgrf4 A G 17: 42,978,477 (GRCm39) F289L probably benign Het
Alkbh2 A G 5: 114,265,613 (GRCm39) L63S probably damaging Het
Atp13a4 A T 16: 29,360,068 (GRCm39) N19K possibly damaging Het
Birc6 T A 17: 74,933,975 (GRCm39) Y2544N probably damaging Het
Bnip5 T C 17: 29,118,503 (GRCm39) Y643C probably benign Het
Bpifa3 A G 2: 153,977,516 (GRCm39) N118S probably damaging Het
Chst10 T A 1: 38,910,904 (GRCm39) M87L probably benign Het
Cnot9 C T 1: 74,568,006 (GRCm39) P298L probably damaging Het
Cops5 T C 1: 10,100,912 (GRCm39) Y228C probably damaging Het
Dcaf8 T G 1: 172,020,137 (GRCm39) L492R probably damaging Het
Dis3l2 A G 1: 86,748,959 (GRCm39) S128G probably benign Het
Dock1 A G 7: 134,346,051 (GRCm39) R198G possibly damaging Het
Elovl7 T A 13: 108,403,904 (GRCm39) M82K possibly damaging Het
Entrep1 G A 19: 23,952,993 (GRCm39) A439V probably damaging Het
Entrep1 C T 19: 23,953,002 (GRCm39) S436N probably damaging Het
Fcgr2b T C 1: 170,791,016 (GRCm39) D259G possibly damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Frk C T 10: 34,467,868 (GRCm39) P294L probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm128 C A 3: 95,147,802 (GRCm39) R164L probably benign Het
Gm2223 C T X: 32,943,247 (GRCm39) noncoding transcript Het
Hexd C A 11: 121,111,975 (GRCm39) A423E probably benign Het
Kank2 A T 9: 21,706,864 (GRCm39) D51E probably damaging Het
Kcna4 G C 2: 107,126,151 (GRCm39) W295S probably damaging Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Mis12 A G 11: 70,916,482 (GRCm39) T172A probably benign Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Myo18a G T 11: 77,720,534 (GRCm39) R1103L possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntrk2 T C 13: 59,008,054 (GRCm39) V272A probably damaging Het
Or2ag17 A T 7: 106,389,486 (GRCm39) C241S probably damaging Het
Or5p64 A T 7: 107,855,039 (GRCm39) I102N probably benign Het
Or7e165 A T 9: 19,695,086 (GRCm39) Y219F possibly damaging Het
Pcdh20 C T 14: 88,705,615 (GRCm39) D562N probably damaging Het
Prep T C 10: 44,943,436 (GRCm39) F4L probably benign Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Ptgs1 C T 2: 36,141,346 (GRCm39) R598C possibly damaging Het
Rasgrp1 T C 2: 117,113,135 (GRCm39) D759G probably benign Het
Setd5 T C 6: 113,096,545 (GRCm39) S584P probably benign Het
Shank3 A G 15: 89,433,797 (GRCm39) D1514G probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc44a5 A T 3: 153,967,010 (GRCm39) R565S possibly damaging Het
Slc7a5 A G 8: 122,615,139 (GRCm39) L236S probably benign Het
Slfn3 A T 11: 83,103,596 (GRCm39) I156F probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Trim72 T C 7: 127,607,080 (GRCm39) V203A probably benign Het
Vrk2 T A 11: 26,497,915 (GRCm39) I90L probably benign Het
Zc3h12c A T 9: 52,026,999 (GRCm39) Y788N probably damaging Het
Zfp831 A G 2: 174,485,822 (GRCm39) T166A possibly damaging Het
Other mutations in Itgax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Itgax APN 7 127,734,498 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTACACAACAGGAGGTTTGAC -3'
(R):5'- CCCACTCTGGCTCTTAGAAG -3'

Sequencing Primer
(F):5'- GTTTGACCAGACATCGATGC -3'
(R):5'- ACTCTGGCTCTTAGAAGCAGCC -3'
Posted On 2015-06-12