Incidental Mutation 'R5750:Itgax'
ID 445970
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 043356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5750 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127743878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 880 (F880L)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053]
AlphaFold Q9QXH4
Predicted Effect probably benign
Transcript: ENSMUST00000033053
AA Change: F880L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: F880L

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 0.5478 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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
Agmat G A 4: 141,476,998 (GRCm39) V135I probably benign Het
Agr3 T C 12: 35,996,941 (GRCm39) Y72H probably benign Het
Ankhd1 T A 18: 36,757,955 (GRCm39) M883K probably benign Het
Cpeb1 A T 7: 81,086,099 (GRCm39) D9E probably benign Het
Creb3l1 C T 2: 91,816,608 (GRCm39) V386M possibly damaging Het
Dnlz C T 2: 26,241,423 (GRCm39) V102M probably damaging Het
Esp4 C T 17: 40,913,286 (GRCm39) T51M probably benign Het
Fap C A 2: 62,359,058 (GRCm39) C443F probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Fshr T A 17: 89,293,669 (GRCm39) L336F probably benign Het
Gna15 G A 10: 81,345,230 (GRCm39) Q212* probably null Het
Hk1 A G 10: 62,110,245 (GRCm39) F785L possibly damaging Het
Ints8 T A 4: 11,241,654 (GRCm39) Q263L possibly damaging Het
Kcnq4 A C 4: 120,572,246 (GRCm39) V327G probably damaging Het
Kdm4a A G 4: 117,999,396 (GRCm39) probably benign Het
Leng8 C T 7: 4,145,119 (GRCm39) S173L probably benign Het
Lrrc37a C T 11: 103,348,923 (GRCm39) D2591N unknown Het
Macrod2 T A 2: 141,357,240 (GRCm39) S179T probably benign Het
Map4k2 T A 19: 6,401,367 (GRCm39) S612R probably benign Het
Mast2 A G 4: 116,166,086 (GRCm39) probably benign Het
Micall2 C T 5: 139,701,456 (GRCm39) probably null Het
Miga2 T A 2: 30,261,577 (GRCm39) W191R probably damaging Het
Mterf1b T C 5: 4,246,683 (GRCm39) I108T probably damaging Het
Myh2 A G 11: 67,082,254 (GRCm39) I1319V probably benign Het
Nalcn T C 14: 123,809,450 (GRCm39) E234G probably benign Het
Ncoa4 T A 14: 31,899,264 (GRCm39) C602* probably null Het
Ntrk2 C A 13: 58,956,736 (GRCm39) P65Q probably benign Het
Or52z15 G A 7: 103,332,362 (GRCm39) V136I possibly damaging Het
Or6c215 C T 10: 129,637,489 (GRCm39) V302M probably benign Het
P3h1 A T 4: 119,095,863 (GRCm39) I324F probably damaging Het
Peli2 G T 14: 48,493,632 (GRCm39) V285L possibly damaging Het
Qser1 A G 2: 104,619,268 (GRCm39) S515P probably damaging Het
Rnf31 C T 14: 55,836,143 (GRCm39) R721C probably damaging Het
Rps5 A G 7: 12,659,334 (GRCm39) K42E probably damaging Het
Rufy4 A T 1: 74,172,068 (GRCm39) T264S probably benign Het
Shq1 A T 6: 100,588,775 (GRCm39) V259D possibly damaging Het
Slc22a3 T C 17: 12,652,395 (GRCm39) I410V probably benign Het
Stx5a T C 19: 8,732,501 (GRCm39) probably benign Het
Syne1 G T 10: 5,289,209 (GRCm39) H1430Q probably benign Het
Tasor2 G A 13: 3,623,642 (GRCm39) Q1421* probably null Het
Tmem126b A C 7: 90,118,865 (GRCm39) V141G probably damaging Het
Trim52 C A 14: 106,344,932 (GRCm39) Q197K probably benign Het
Tshz1 A G 18: 84,032,086 (GRCm39) L774P possibly damaging Het
Ttn T C 2: 76,602,031 (GRCm39) S10217G possibly damaging Het
Unc45a A G 7: 79,984,571 (GRCm39) V228A probably benign Het
Unc93a2 C T 17: 7,637,130 (GRCm39) V133I probably benign Het
Vwa2 G T 19: 56,897,663 (GRCm39) G656V probably benign Het
Xpo5 T C 17: 46,529,556 (GRCm39) probably null Het
Zeb2 T A 2: 44,887,530 (GRCm39) Q494L 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
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
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'- TACACAACAGGAGGTTTGACC -3'
(R):5'- TTCCCACTCTGGCTCTTAGAAG -3'

Sequencing Primer
(F):5'- GTTTGACCAGACATCGATGC -3'
(R):5'- ACTCTGGCTCTTAGAAGCAGCC -3'
Posted On 2016-11-21