Incidental Mutation 'R5725:Itgax'
ID 452441
Institutional Source Beutler Lab
Gene Symbol Itgax
Ensembl Gene ENSMUSG00000030789
Gene Name integrin alpha X
Synonyms CD11C (p150) alpha polypeptide, CR4, Cd11c
MMRRC Submission 043343-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5725 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127728719-127749829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127747033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 945 (T945A)
Ref Sequence ENSEMBL: ENSMUSP00000033053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033053]
AlphaFold Q9QXH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000033053
AA Change: T945A

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: T945A

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: 99.1%
  • 3x: 98.4%
  • 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
2700049A03Rik G A 12: 71,240,093 (GRCm39) R1301H probably benign Het
6030468B19Rik G T 11: 117,696,883 (GRCm39) S201I probably damaging Het
Abca13 G A 11: 9,527,181 (GRCm39) M4531I probably benign Het
Abca2 A G 2: 25,329,412 (GRCm39) M1058V probably damaging Het
Agrn T A 4: 156,258,332 (GRCm39) T938S probably benign Het
Aloxe3 A T 11: 69,019,480 (GRCm39) D131V probably null Het
Angptl7 C A 4: 148,580,965 (GRCm39) A277S possibly damaging Het
Ap5z1 T C 5: 142,454,731 (GRCm39) M244T probably damaging Het
Aplp2 T C 9: 31,069,110 (GRCm39) D573G probably damaging Het
Arid5a G T 1: 36,358,211 (GRCm39) E176* probably null Het
Atp8b4 A T 2: 126,275,856 (GRCm39) N125K probably benign Het
Auts2 A G 5: 131,468,584 (GRCm39) V911A probably benign Het
Bahcc1 G A 11: 120,165,714 (GRCm39) R990H probably benign Het
Cd84 T C 1: 171,700,928 (GRCm39) F230L probably benign Het
Dtnb T A 12: 3,823,566 (GRCm39) L584H probably damaging Het
Dync2h1 A C 9: 7,169,528 (GRCm39) S316R probably benign Het
Eif3m A G 2: 104,844,186 (GRCm39) I73T probably damaging Het
Emilin3 A T 2: 160,750,410 (GRCm39) C399* probably null Het
Fam118a A G 15: 84,929,822 (GRCm39) K17E probably damaging Het
Fat4 A G 3: 38,943,774 (GRCm39) N889S probably damaging Het
Hmcn2 G A 2: 31,273,827 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Itsn2 T A 12: 4,680,767 (GRCm39) probably benign Het
Kcna4 A G 2: 107,127,221 (GRCm39) T652A possibly damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrp4 A G 2: 91,325,240 (GRCm39) Y1355C probably damaging Het
Mmp9 C A 2: 164,791,256 (GRCm39) A142E possibly damaging Het
Mpeg1 T C 19: 12,440,000 (GRCm39) V486A probably benign Het
Mrgprb3 A T 7: 48,293,548 (GRCm39) M1K probably null Het
Mrtfb A T 16: 13,202,174 (GRCm39) K146* probably null Het
Nacad T C 11: 6,551,643 (GRCm39) E516G probably benign Het
Or5k15 G A 16: 58,710,250 (GRCm39) T111I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pappa T A 4: 65,107,647 (GRCm39) V686E probably damaging Het
Polr3a A T 14: 24,515,455 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,348 (GRCm39) V522A probably benign Het
Rab6b T A 9: 103,041,061 (GRCm39) F152I probably damaging Het
Sacs G A 14: 61,448,559 (GRCm39) R3535Q probably damaging Het
Septin14 T C 5: 129,766,630 (GRCm39) D317G probably damaging Het
Sin3b T C 8: 73,452,320 (GRCm39) probably null Het
Sis G A 3: 72,872,931 (GRCm39) P69L probably damaging Het
Slc12a3 G T 8: 95,057,074 (GRCm39) V116L probably benign Het
Slc16a12 A T 19: 34,652,227 (GRCm39) F306L probably damaging Het
Slc39a12 T C 2: 14,394,075 (GRCm39) probably benign Het
Smg6 A G 11: 74,821,439 (GRCm39) Q570R probably benign Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Srsf4 C A 4: 131,628,262 (GRCm39) probably benign Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trav19 A C 14: 54,082,999 (GRCm39) T25P possibly damaging Het
Trim3 A G 7: 105,266,947 (GRCm39) probably null Het
Ugt2a2 T C 5: 87,622,755 (GRCm39) N281S probably damaging Het
Vmn1r12 A G 6: 57,136,694 (GRCm39) I264V probably benign Het
Vmn2r94 T A 17: 18,476,489 (GRCm39) I403F possibly damaging Het
Zzef1 G A 11: 72,746,308 (GRCm39) R870Q 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
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
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'- TAGCTGTTCCTGCATGGCTC -3'
(R):5'- CAAAAGTTGATGCTGACTGGCAC -3'

Sequencing Primer
(F):5'- CCTTTCGCCCACCCTGAAG -3'
(R):5'- TGATGCTGACTGGCACGTCTC -3'
Posted On 2017-01-03