Incidental Mutation 'R3938:Itgax'
ID 307277
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 040825-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3938 (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 127735445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 504 (R504S)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053] [ENSMUST00000205460]
AlphaFold Q9QXH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000033053
AA Change: R504S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: R504S

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
Meta Mutation Damage Score 0.2745 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 C T 16: 85,592,507 (GRCm39) V634M possibly damaging Het
Arid4b A T 13: 14,361,513 (GRCm39) N659I probably benign Het
BC049715 T C 6: 136,817,453 (GRCm39) I231T possibly damaging Het
Bmp4 T C 14: 46,621,536 (GRCm39) Y336C probably damaging Het
Ccdc30 G A 4: 119,209,870 (GRCm39) T293I probably benign Het
Chd5 A T 4: 152,461,512 (GRCm39) T1275S probably benign Het
Chtf8 A T 8: 107,612,537 (GRCm39) M134K probably benign Het
Col11a2 A T 17: 34,258,599 (GRCm39) probably benign Het
Cyp8b1 A G 9: 121,744,684 (GRCm39) V216A probably benign Het
Dnah8 C T 17: 31,073,911 (GRCm39) T4527M probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Erap1 T A 13: 74,816,147 (GRCm39) L92Q probably damaging Het
Exoc3l G T 8: 106,020,037 (GRCm39) P296H probably damaging Het
Fcgbpl1 C T 7: 27,853,719 (GRCm39) P1561L probably damaging Het
Foxl3 A T 5: 138,806,723 (GRCm39) N78Y probably damaging Het
Hacl1 T C 14: 31,356,148 (GRCm39) probably benign Het
Hrnr T A 3: 93,230,162 (GRCm39) N133K probably benign Het
Itgb4 A G 11: 115,896,752 (GRCm39) S1461G possibly damaging Het
Klkb1 G T 8: 45,735,838 (GRCm39) T175K probably damaging Het
Lrrk2 A T 15: 91,596,983 (GRCm39) D525V possibly damaging Het
Lrrk2 C A 15: 91,662,707 (GRCm39) T1912K probably damaging Het
Mdga1 G T 17: 30,076,596 (GRCm39) Q59K probably damaging Het
Mpp4 A G 1: 59,163,842 (GRCm39) V466A possibly damaging Het
Myh6 T C 14: 55,200,512 (GRCm39) D203G probably benign Het
Myo5b T C 18: 74,849,108 (GRCm39) S1116P probably damaging Het
Nemp1 T C 10: 127,531,342 (GRCm39) L311P probably damaging Het
Nup205 A G 6: 35,196,677 (GRCm39) R1138G probably damaging Het
Nup54 A G 5: 92,565,388 (GRCm39) M443T probably damaging Het
Peak1 T C 9: 56,167,649 (GRCm39) E93G probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plekhj1 A G 10: 80,633,609 (GRCm39) I76T probably damaging Het
Poll A G 19: 45,546,857 (GRCm39) probably benign Het
Ppp1r3a A T 6: 14,719,073 (GRCm39) S614T probably damaging Het
Pygm A T 19: 6,442,980 (GRCm39) I556F probably benign Het
Ranbp2 T C 10: 58,312,294 (GRCm39) F1005L probably benign Het
Rcor3 G T 1: 191,785,385 (GRCm39) T361K possibly damaging Het
Robo4 A G 9: 37,313,313 (GRCm39) probably benign Het
Rps15 T C 10: 80,129,673 (GRCm39) V96A probably benign Het
Rrm2 T A 12: 24,759,431 (GRCm39) N55K probably damaging Het
Shank2 T C 7: 143,682,112 (GRCm39) Y382H probably benign Het
Slc25a10 G T 11: 120,382,819 (GRCm39) E3* probably null Het
Slc7a8 T A 14: 54,973,298 (GRCm39) E223V probably benign Het
Snx13 A G 12: 35,194,096 (GRCm39) K880E probably benign Het
Spinkl T G 18: 44,301,216 (GRCm39) M41L probably benign Het
Srp54a A C 12: 55,136,042 (GRCm39) N19T probably benign Het
Sun2 T C 15: 79,618,356 (GRCm39) K268E probably benign Het
Sytl1 G A 4: 132,982,935 (GRCm39) Q359* probably null Het
Tlr6 A T 5: 65,110,938 (GRCm39) F656L probably damaging Het
Tmem185a C T X: 69,505,792 (GRCm39) probably null Het
Tmem45a2 C T 16: 56,859,398 (GRCm39) D278N probably benign Het
Trav7-1 T C 14: 52,892,791 (GRCm39) probably benign Het
Trpc2 T A 7: 101,742,781 (GRCm39) M597K probably damaging Het
Ttc21a A G 9: 119,779,882 (GRCm39) probably benign Het
Usp9y C T Y: 1,313,741 (GRCm39) M2188I probably damaging Het
Utrn C A 10: 12,625,774 (GRCm39) probably null Het
Vmn1r35 T A 6: 66,656,057 (GRCm39) R204S probably damaging Het
Zfp955b T A 17: 33,524,390 (GRCm39) Y59F probably 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
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'- ACTGACCTGGTCCTGATTGG -3'
(R):5'- AGATAGTGACTGGGCCTTACCTG -3'

Sequencing Primer
(F):5'- GATTGGAGTCCCCCATTACTATGAG -3'
(R):5'- ATGTCCTGTCTTGAGGCTCCATG -3'
Posted On 2015-04-17