Incidental Mutation 'IGL01845:Itgam'
ID178212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgam
Ensembl Gene ENSMUSG00000030786
Gene Nameintegrin alpha M
SynonymsMac-1a, CD11b/CD18, Mac-1, F730045J24Rik, Mac-1 alpha, complement receptor type 3, Cd11b, complement component receptor 3 alpha, Ly-40, CD11B (p170), CR3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.384) question?
Stock #IGL01845
Quality Score
Status
Chromosome7
Chromosomal Location128062640-128118491 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 128112472 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 753 (L753Q)
Ref Sequence ENSEMBL: ENSMUSP00000113957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]
Predicted Effect probably damaging
Transcript: ENSMUST00000064821
AA Change: L753Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: L753Q

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 damaging
Transcript: ENSMUST00000098015
AA Change: L752Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: L752Q

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 damaging
Transcript: ENSMUST00000106240
AA Change: L635Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: L635Q

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 damaging
Transcript: ENSMUST00000106242
AA Change: L752Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: L752Q

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 damaging
Transcript: ENSMUST00000120355
AA Change: L753Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: L753Q

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik T C 17: 14,944,118 L169P probably damaging Het
4933405L10Rik C A 8: 105,708,935 A75E probably benign Het
Abca1 A G 4: 53,090,297 L384P probably damaging Het
Acox2 C A 14: 8,251,617 M293I probably damaging Het
Acp6 A G 3: 97,173,807 S288G probably benign Het
Arhgef12 T A 9: 43,022,841 H127L possibly damaging Het
Arid2 T G 15: 96,356,797 F175V probably damaging Het
Ccdc15 G A 9: 37,315,236 Q468* probably null Het
Ccdc93 T C 1: 121,463,130 I277T probably damaging Het
Cdh8 T C 8: 99,098,954 probably benign Het
Cdipt T C 7: 126,979,553 S145P possibly damaging Het
Cfap206 T C 4: 34,719,610 N268S possibly damaging Het
Clcn3 A T 8: 60,913,095 N814K probably benign Het
Col6a3 T C 1: 90,796,571 D2019G probably damaging Het
Corin C A 5: 72,353,939 G432C probably damaging Het
Cyld C T 8: 88,705,775 Q134* probably null Het
Dhh C A 15: 98,897,983 R97L probably damaging Het
Dnah5 T C 15: 28,449,169 V4239A probably benign Het
Dock2 T C 11: 34,708,865 I296V probably benign Het
Gabbr1 T C 17: 37,048,414 probably benign Het
Gbp10 T C 5: 105,219,949 probably null Het
Ispd A G 12: 36,547,919 R350G probably benign Het
Kbtbd12 A G 6: 88,613,940 V430A probably benign Het
Kdm4a A G 4: 118,160,459 V470A possibly damaging Het
Larp1b A T 3: 40,970,525 T146S probably benign Het
Lrrfip2 T A 9: 111,199,660 probably benign Het
Mgea5 T A 19: 45,767,862 E447D probably benign Het
Mier2 A T 10: 79,549,584 C137S possibly damaging Het
Morc3 A G 16: 93,860,567 Y393C probably damaging Het
Ms4a7 A T 19: 11,322,387 M217K possibly damaging Het
Msl1 A G 11: 98,805,365 probably null Het
Myh2 A G 11: 67,193,034 E1546G probably benign Het
Nlgn2 A G 11: 69,825,849 L622P possibly damaging Het
Olfr1419 A G 19: 11,870,524 S231P probably benign Het
Olfr181 T C 16: 58,926,566 M2V probably benign Het
Olfr339 A C 2: 36,422,093 K232Q probably benign Het
Olfr393 A G 11: 73,847,472 Y218H probably damaging Het
Olfr504 T A 7: 108,565,136 I220L possibly damaging Het
Phf20 C A 2: 156,276,657 S427* probably null Het
Pirt G A 11: 66,925,968 S35N probably damaging Het
Prss28 C A 17: 25,310,037 N117K possibly damaging Het
Rbbp8nl A G 2: 180,283,311 C34R probably damaging Het
Rtn3 A T 19: 7,457,876 D231E probably damaging Het
Sema5a T C 15: 32,474,368 probably benign Het
Sh3bp2 T A 5: 34,556,003 L196Q probably damaging Het
Slc26a9 G T 1: 131,757,518 D325Y probably damaging Het
Slc4a1 A G 11: 102,353,903 V622A probably benign Het
Thbd A G 2: 148,407,096 V284A probably benign Het
Tmc5 T C 7: 118,652,510 F609L possibly damaging Het
Tnr T C 1: 159,868,006 probably benign Het
Ttc17 A T 2: 94,332,832 Y881* probably null Het
Ttc41 A T 10: 86,776,624 T1254S probably benign Het
Ttn C T 2: 76,810,003 D13754N probably damaging Het
Vmn2r16 T A 5: 109,363,896 F656L probably damaging Het
Wdr19 A G 5: 65,225,366 I478V probably damaging Het
Zan T C 5: 137,380,854 probably benign Het
Zp2 T A 7: 120,138,191 D258V probably damaging Het
Other mutations in Itgam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Itgam APN 7 128085661 missense probably damaging 1.00
IGL00983:Itgam APN 7 128068667 missense probably damaging 0.97
IGL01102:Itgam APN 7 128080273 missense possibly damaging 0.94
IGL01615:Itgam APN 7 128116767 missense possibly damaging 0.80
IGL01860:Itgam APN 7 128070943 missense probably benign 0.03
IGL01874:Itgam APN 7 128115166 missense probably damaging 0.97
IGL01910:Itgam APN 7 128083776 missense probably damaging 1.00
IGL01994:Itgam APN 7 128101727 missense probably damaging 0.97
IGL02332:Itgam APN 7 128085674 critical splice donor site probably null
IGL02348:Itgam APN 7 128116300 missense possibly damaging 0.52
IGL02394:Itgam APN 7 128084942 missense probably benign 0.01
IGL02491:Itgam APN 7 128116018 missense possibly damaging 0.71
IGL02695:Itgam APN 7 128085941 missense possibly damaging 0.81
IGL02821:Itgam APN 7 128076109 missense probably damaging 0.99
IGL02970:Itgam APN 7 128086043 missense probably benign 0.00
IGL03145:Itgam APN 7 128113019 missense probably benign 0.12
apparition UTSW 7 128112286 splice site probably null
invisible UTSW 7 128070703 unclassified probably null
obscured UTSW 7 128081634 missense probably damaging 1.00
R0184:Itgam UTSW 7 128086058 missense probably damaging 0.96
R0389:Itgam UTSW 7 128081634 missense probably damaging 1.00
R0443:Itgam UTSW 7 128081634 missense probably damaging 1.00
R0454:Itgam UTSW 7 128107980 missense probably benign 0.01
R0674:Itgam UTSW 7 128116218 missense possibly damaging 0.67
R0828:Itgam UTSW 7 128116505 critical splice donor site probably null
R0925:Itgam UTSW 7 128112238 missense probably benign 0.00
R1086:Itgam UTSW 7 128080264 missense probably damaging 1.00
R1655:Itgam UTSW 7 128115163 missense probably benign 0.00
R1809:Itgam UTSW 7 128070937 missense possibly damaging 0.62
R1823:Itgam UTSW 7 128064732 missense probably benign 0.04
R2105:Itgam UTSW 7 128081712 missense probably damaging 1.00
R2154:Itgam UTSW 7 128085577 missense probably damaging 0.99
R2656:Itgam UTSW 7 128116815 missense probably null 1.00
R2913:Itgam UTSW 7 128112406 missense probably damaging 1.00
R3116:Itgam UTSW 7 128116029 missense probably damaging 1.00
R3404:Itgam UTSW 7 128070703 unclassified probably null
R3821:Itgam UTSW 7 128112286 splice site probably null
R3822:Itgam UTSW 7 128112286 splice site probably null
R3960:Itgam UTSW 7 128115175 missense probably benign 0.02
R3968:Itgam UTSW 7 128113033 missense probably damaging 1.00
R4192:Itgam UTSW 7 128064732 missense probably benign 0.21
R4400:Itgam UTSW 7 128081658 missense probably damaging 1.00
R4708:Itgam UTSW 7 128101537 missense probably damaging 0.99
R4709:Itgam UTSW 7 128101537 missense probably damaging 0.99
R4742:Itgam UTSW 7 128113073 missense probably damaging 1.00
R4790:Itgam UTSW 7 128116273 missense probably benign 0.01
R4960:Itgam UTSW 7 128115840 missense possibly damaging 0.93
R5109:Itgam UTSW 7 128113218 missense probably benign 0.06
R5190:Itgam UTSW 7 128116317 unclassified probably null
R5379:Itgam UTSW 7 128112388 missense probably damaging 1.00
R5386:Itgam UTSW 7 128107980 missense probably benign 0.00
R6104:Itgam UTSW 7 128116302 missense possibly damaging 0.85
R6122:Itgam UTSW 7 128085652 missense probably damaging 0.99
R6189:Itgam UTSW 7 128112504 missense probably benign 0.04
R6282:Itgam UTSW 7 128084942 missense probably benign 0.01
R6545:Itgam UTSW 7 128107872 missense probably damaging 1.00
Posted On2014-05-07