Incidental Mutation 'R1659:Itgax'
ID 186595
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127730063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 73 (T73I)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053] [ENSMUST00000098015] [ENSMUST00000205460]
AlphaFold Q9QXH4
Predicted Effect probably benign
Transcript: ENSMUST00000033053
AA Change: T73I

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: T73I

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 probably benign
Transcript: ENSMUST00000098015
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Int_alpha 30 80 8.11e0 SMART
VWA 148 333 2.63e-49 SMART
Int_alpha 400 449 1.07e1 SMART
Int_alpha 453 510 1.48e-7 SMART
Int_alpha 516 572 4.9e-13 SMART
Int_alpha 579 633 3.67e-3 SMART
low complexity region 849 855 N/A INTRINSIC
coiled coil region 1143 1170 N/A INTRINSIC
low complexity region 1178 1200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134694
SMART Domains Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 39 82 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205408
Predicted Effect probably benign
Transcript: ENSMUST00000205460
AA Change: T73I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205866
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Thsd7a T A 6: 12,504,063 (GRCm39) T364S possibly damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A 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
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'- ACTAAATGCTGGGCTCTTCTCCAAC -3'
(R):5'- GGACCCTTGGGTAAAGCAGACATC -3'

Sequencing Primer
(F):5'- ACAAGGAATTGTCTGTCCGTC -3'
(R):5'- CAGCATCATGGGGGTACAATG -3'
Posted On 2014-05-09