Incidental Mutation 'IGL02491:Itgam'
ID 295625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgam
Ensembl Gene ENSMUSG00000030786
Gene Name integrin alpha M
Synonyms Mac-1, complement receptor type 3, Ly-40, Mac-1 alpha, CD11B (p170), Cd11b, Mac-1a, CD11b/CD18, complement component receptor 3 alpha, F730045J24Rik, CR3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL02491
Quality Score
Status
Chromosome 7
Chromosomal Location 127661812-127717663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127715190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 877 (N877D)
Ref Sequence ENSEMBL: ENSMUSP00000101847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064821
AA Change: N995D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: N995D

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
Pfam:Integrin_alpha 1130 1144 2.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098015
AA Change: N994D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: N994D

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 possibly damaging
Transcript: ENSMUST00000106240
AA Change: N877D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: N877D

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 462 516 3.67e-3 SMART
low complexity region 732 738 N/A INTRINSIC
Pfam:Integrin_alpha 1013 1027 3.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106242
AA Change: N994D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: N994D

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 453 511 5.91e-7 SMART
Int_alpha 517 573 4.9e-13 SMART
Int_alpha 580 634 3.67e-3 SMART
low complexity region 850 856 N/A INTRINSIC
Pfam:Integrin_alpha 1131 1145 8.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120355
AA Change: N995D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: N995D

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 453 511 5.91e-7 SMART
Int_alpha 517 573 4.9e-13 SMART
Int_alpha 580 634 3.67e-3 SMART
low complexity region 850 856 N/A INTRINSIC
low complexity region 1141 1150 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
Coding Region Coverage
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 M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice exhibit reduced staphylococcal enterotoxin- induced T cell proliferation, reduced neutrophil adhesion to fibrinogen, and defective homotypic aggregation and reduced degranulation of neutrophils. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,067,794 (GRCm39) probably benign Het
Acacb T A 5: 114,330,166 (GRCm39) I443N probably damaging Het
C1qtnf3 A T 15: 10,972,067 (GRCm39) I118F possibly damaging Het
Carmil3 C T 14: 55,741,974 (GRCm39) A1148V probably benign Het
Ccdc62 A T 5: 124,099,378 (GRCm39) S677C probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col11a2 C A 17: 34,283,181 (GRCm39) probably benign Het
Cpsf7 A G 19: 10,517,001 (GRCm39) I368V possibly damaging Het
Csmd2 T C 4: 128,428,050 (GRCm39) S2934P probably benign Het
Csmd3 A G 15: 47,777,511 (GRCm39) probably benign Het
Cubn A G 2: 13,326,039 (GRCm39) Y2709H probably damaging Het
Cyp2d12 T A 15: 82,442,682 (GRCm39) L375Q possibly damaging Het
Etv4 A T 11: 101,674,791 (GRCm39) probably null Het
Exph5 T A 9: 53,286,343 (GRCm39) D1141E possibly damaging Het
Fbxo16 T A 14: 65,558,736 (GRCm39) H298Q probably benign Het
Fbxw21 T A 9: 108,972,887 (GRCm39) Y349F probably benign Het
Foxs1 G A 2: 152,774,721 (GRCm39) R111C probably damaging Het
Galnt15 T A 14: 31,778,273 (GRCm39) L436Q probably damaging Het
Gbf1 T C 19: 46,250,979 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,577 (GRCm38) C29* probably null Het
Hcn1 A G 13: 117,946,576 (GRCm39) D317G unknown Het
Kcnma1 T C 14: 23,361,757 (GRCm39) R1047G probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lpcat2 T C 8: 93,600,879 (GRCm39) V241A probably damaging Het
Mnat1 A G 12: 73,170,682 (GRCm39) N24S probably null Het
Mprip A G 11: 59,660,857 (GRCm39) T967A probably benign Het
Mtf1 T C 4: 124,732,372 (GRCm39) F477L probably benign Het
Naaladl1 A G 19: 6,159,748 (GRCm39) E393G possibly damaging Het
Or10ak7 A T 4: 118,791,358 (GRCm39) L229H probably damaging Het
Or2at1 A G 7: 99,416,540 (GRCm39) E57G possibly damaging Het
Or5e1 A G 7: 108,354,321 (GRCm39) K86R probably damaging Het
Pcdhb6 A T 18: 37,468,735 (GRCm39) D552V probably damaging Het
Pglyrp3 C T 3: 91,921,944 (GRCm39) S4F possibly damaging Het
Pramel13 A T 4: 144,121,322 (GRCm39) M234K probably damaging Het
Prss27 A T 17: 24,263,229 (GRCm39) probably benign Het
Slc5a9 A G 4: 111,753,549 (GRCm39) S51P probably damaging Het
Slc6a4 A G 11: 76,918,034 (GRCm39) Y592C probably damaging Het
Slc7a13 T A 4: 19,841,404 (GRCm39) V417D probably damaging Het
Spring1 T C 5: 118,397,160 (GRCm39) Y130H probably benign Het
Syne2 A G 12: 76,118,953 (GRCm39) T5857A probably benign Het
Thap1 A C 8: 26,650,885 (GRCm39) S52R probably damaging Het
Thsd4 T C 9: 59,907,301 (GRCm39) N158S probably damaging Het
Tmem147 A T 7: 30,427,626 (GRCm39) probably benign Het
Trdmt1 G A 2: 13,521,483 (GRCm39) A311V probably benign Het
U2surp T A 9: 95,372,273 (GRCm39) R296S probably damaging Het
Upf2 A G 2: 6,030,975 (GRCm39) D805G unknown Het
Usp34 T A 11: 23,382,630 (GRCm39) H2057Q probably damaging Het
Vmn2r110 T A 17: 20,816,400 (GRCm39) D41V probably damaging Het
Vmn2r16 T A 5: 109,487,703 (GRCm39) L192* probably null Het
Vnn3 T A 10: 23,741,816 (GRCm39) S374T probably benign Het
Wdr62 A C 7: 29,942,184 (GRCm39) D1089E probably benign Het
Xdh T A 17: 74,193,459 (GRCm39) D1279V probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp518b A G 5: 38,831,123 (GRCm39) I294T possibly damaging Het
Zfp983 G A 17: 21,876,528 (GRCm39) probably null Het
Other mutations in Itgam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Itgam APN 7 127,684,833 (GRCm39) missense probably damaging 1.00
IGL00983:Itgam APN 7 127,667,839 (GRCm39) missense probably damaging 0.97
IGL01102:Itgam APN 7 127,679,445 (GRCm39) missense possibly damaging 0.94
IGL01615:Itgam APN 7 127,715,939 (GRCm39) missense possibly damaging 0.80
IGL01845:Itgam APN 7 127,711,644 (GRCm39) missense probably damaging 1.00
IGL01860:Itgam APN 7 127,670,115 (GRCm39) missense probably benign 0.03
IGL01874:Itgam APN 7 127,714,338 (GRCm39) missense probably damaging 0.97
IGL01910:Itgam APN 7 127,682,948 (GRCm39) missense probably damaging 1.00
IGL01994:Itgam APN 7 127,700,899 (GRCm39) missense probably damaging 0.97
IGL02332:Itgam APN 7 127,684,846 (GRCm39) critical splice donor site probably null
IGL02348:Itgam APN 7 127,715,472 (GRCm39) missense possibly damaging 0.52
IGL02394:Itgam APN 7 127,684,114 (GRCm39) missense probably benign 0.01
IGL02695:Itgam APN 7 127,685,113 (GRCm39) missense possibly damaging 0.81
IGL02821:Itgam APN 7 127,675,281 (GRCm39) missense probably damaging 0.99
IGL02970:Itgam APN 7 127,685,215 (GRCm39) missense probably benign 0.00
IGL03145:Itgam APN 7 127,712,191 (GRCm39) missense probably benign 0.12
adhesion UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
apparition UTSW 7 127,711,458 (GRCm39) splice site probably null
attachment UTSW 7 127,712,205 (GRCm39) missense probably damaging 1.00
Follower UTSW 7 127,679,436 (GRCm39) missense probably damaging 1.00
invisible UTSW 7 127,669,875 (GRCm39) splice site probably null
obscured UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0184:Itgam UTSW 7 127,685,230 (GRCm39) missense probably damaging 0.96
R0389:Itgam UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0443:Itgam UTSW 7 127,680,806 (GRCm39) missense probably damaging 1.00
R0454:Itgam UTSW 7 127,707,152 (GRCm39) missense probably benign 0.01
R0674:Itgam UTSW 7 127,715,390 (GRCm39) missense possibly damaging 0.67
R0828:Itgam UTSW 7 127,715,677 (GRCm39) critical splice donor site probably null
R0925:Itgam UTSW 7 127,711,410 (GRCm39) missense probably benign 0.00
R1086:Itgam UTSW 7 127,679,436 (GRCm39) missense probably damaging 1.00
R1655:Itgam UTSW 7 127,714,335 (GRCm39) missense probably benign 0.00
R1809:Itgam UTSW 7 127,670,109 (GRCm39) missense possibly damaging 0.62
R1823:Itgam UTSW 7 127,663,904 (GRCm39) missense probably benign 0.04
R2105:Itgam UTSW 7 127,680,884 (GRCm39) missense probably damaging 1.00
R2154:Itgam UTSW 7 127,684,749 (GRCm39) missense probably damaging 0.99
R2656:Itgam UTSW 7 127,715,987 (GRCm39) missense probably null 1.00
R2913:Itgam UTSW 7 127,711,578 (GRCm39) missense probably damaging 1.00
R3116:Itgam UTSW 7 127,715,201 (GRCm39) missense probably damaging 1.00
R3404:Itgam UTSW 7 127,669,875 (GRCm39) splice site probably null
R3821:Itgam UTSW 7 127,711,458 (GRCm39) splice site probably null
R3822:Itgam UTSW 7 127,711,458 (GRCm39) splice site probably null
R3960:Itgam UTSW 7 127,714,347 (GRCm39) missense probably benign 0.02
R3968:Itgam UTSW 7 127,712,205 (GRCm39) missense probably damaging 1.00
R4192:Itgam UTSW 7 127,663,904 (GRCm39) missense probably benign 0.21
R4400:Itgam UTSW 7 127,680,830 (GRCm39) missense probably damaging 1.00
R4708:Itgam UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
R4709:Itgam UTSW 7 127,700,709 (GRCm39) missense probably damaging 0.99
R4742:Itgam UTSW 7 127,712,245 (GRCm39) missense probably damaging 1.00
R4790:Itgam UTSW 7 127,715,445 (GRCm39) missense probably benign 0.01
R4960:Itgam UTSW 7 127,715,012 (GRCm39) missense possibly damaging 0.93
R5109:Itgam UTSW 7 127,712,390 (GRCm39) missense probably benign 0.06
R5190:Itgam UTSW 7 127,715,489 (GRCm39) splice site probably null
R5379:Itgam UTSW 7 127,711,560 (GRCm39) missense probably damaging 1.00
R5386:Itgam UTSW 7 127,707,152 (GRCm39) missense probably benign 0.00
R6104:Itgam UTSW 7 127,715,474 (GRCm39) missense possibly damaging 0.85
R6122:Itgam UTSW 7 127,684,824 (GRCm39) missense probably damaging 0.99
R6189:Itgam UTSW 7 127,711,676 (GRCm39) missense probably benign 0.04
R6282:Itgam UTSW 7 127,684,114 (GRCm39) missense probably benign 0.01
R6545:Itgam UTSW 7 127,707,044 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16