Incidental Mutation 'R0763:Itgax'
ID 72509
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 038943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0763 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 127747112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053]
AlphaFold Q9QXH4
Predicted Effect probably benign
Transcript: ENSMUST00000033053
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 96% (52/54)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,815,261 (GRCm39) F290V probably damaging Het
Adam26b G A 8: 43,973,601 (GRCm39) S467L probably damaging Het
Adgrv1 T A 13: 81,647,244 (GRCm39) I3099F probably damaging Het
Akap6 A G 12: 53,188,997 (GRCm39) D2137G possibly damaging Het
Arhgdig T C 17: 26,419,275 (GRCm39) Y48C probably damaging Het
Astn1 A G 1: 158,337,460 (GRCm39) I389V possibly damaging Het
Atp8a1 T C 5: 67,817,226 (GRCm39) D920G probably benign Het
BC016579 T A 16: 45,449,818 (GRCm39) N200I probably damaging Het
Casc3 T C 11: 98,722,144 (GRCm39) Y661H probably damaging Het
Cep120 A C 18: 53,854,809 (GRCm39) V442G probably benign Het
Cfap65 A G 1: 74,943,841 (GRCm39) Y1557H probably damaging Het
Chd2 G T 7: 73,097,022 (GRCm39) Q1485K possibly damaging Het
Cntrl T C 2: 35,061,078 (GRCm39) F1967L probably benign Het
Csmd1 G A 8: 17,077,300 (GRCm39) T119M possibly damaging Het
Dnah9 T C 11: 66,046,356 (GRCm39) H64R probably benign Het
Ep400 T C 5: 110,813,703 (GRCm39) R2899G probably damaging Het
Foxl2 A C 9: 98,838,086 (GRCm39) T125P probably damaging Het
Foxred1 A T 9: 35,118,769 (GRCm39) probably null Het
H2-Eb1 T A 17: 34,533,133 (GRCm39) probably benign Het
Heatr3 T C 8: 88,884,869 (GRCm39) S378P probably damaging Het
Hectd4 T C 5: 121,445,096 (GRCm39) probably benign Het
Hps3 T G 3: 20,057,443 (GRCm39) R780S probably damaging Het
Ifi44 G A 3: 151,455,135 (GRCm39) A30V probably damaging Het
Il12rb1 G A 8: 71,265,934 (GRCm39) probably benign Het
Invs G A 4: 48,392,628 (GRCm39) G281R possibly damaging Het
Jade1 G T 3: 41,568,218 (GRCm39) C762F possibly damaging Het
Lama1 C T 17: 68,079,813 (GRCm39) P1229S probably damaging Het
Mmp15 C A 8: 96,094,856 (GRCm39) D243E probably benign Het
Mug2 A G 6: 122,052,253 (GRCm39) T1004A probably benign Het
Myh14 A T 7: 44,314,791 (GRCm39) V44E probably damaging Het
N4bp2l1 C A 5: 150,517,869 (GRCm39) R11S possibly damaging Het
Notch4 T A 17: 34,784,306 (GRCm39) C36* probably null Het
Nwd1 A G 8: 73,397,672 (GRCm39) D637G probably damaging Het
Ogfod1 T C 8: 94,782,264 (GRCm39) I238T probably benign Het
Pakap G A 4: 57,688,441 (GRCm39) E95K probably damaging Het
Papln A G 12: 83,838,639 (GRCm39) D1256G possibly damaging Het
Ppp1r26 T C 2: 28,340,379 (GRCm39) L3P probably damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Slc17a5 A T 9: 78,460,372 (GRCm39) probably benign Het
Slc25a17 A G 15: 81,207,907 (GRCm39) probably benign Het
Socs4 T C 14: 47,528,112 (GRCm39) F349S probably damaging Het
Spata31f1a A G 4: 42,851,238 (GRCm39) V306A probably damaging Het
Tchhl1 A C 3: 93,378,878 (GRCm39) E527D probably benign Het
Tm7sf3 A G 6: 146,507,787 (GRCm39) L425S possibly damaging Het
Tmem266 G T 9: 55,322,239 (GRCm39) V112L probably damaging Het
Tmem30c T A 16: 57,090,539 (GRCm39) I223F possibly damaging Het
Tomm70a G A 16: 56,942,535 (GRCm39) G104D probably benign Het
Ttc17 G T 2: 94,163,148 (GRCm39) A834E probably benign Het
Ttn C T 2: 76,561,534 (GRCm39) V20664M probably damaging Het
Zbed5 T C 5: 129,931,020 (GRCm39) V323A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AACCTCATTCCATGCTGTCCCAAG -3'
(R):5'- CAAGGGTGTCAGTTAAGGAGCCAC -3'

Sequencing Primer
(F):5'- CATGCTGTCCCAAGTCCAG -3'
(R):5'- CCGGTAGTCGTATACCTGAGG -3'
Posted On 2013-09-30