Incidental Mutation 'IGL01994:Itgam'
ID183631
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 #IGL01994
Quality Score
Status
Chromosome7
Chromosomal Location128062640-128118491 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 128101727 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 530 (V530M)
Ref Sequence ENSEMBL: ENSMUSP00000095625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]
Predicted Effect probably damaging
Transcript: ENSMUST00000064821
AA Change: V531M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: V531M

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: V530M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: V530M

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 benign
Transcript: ENSMUST00000106240
SMART Domains Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786

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: V530M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: V530M

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 possibly damaging
Transcript: ENSMUST00000120355
AA Change: V531M

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: V531M

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam234b T A 6: 135,225,205 Y308* probably null Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Ippk A G 13: 49,458,617 Q439R possibly damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Ncr1 G T 7: 4,341,254 V177F probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Plxnc1 T C 10: 94,849,939 K730R probably damaging Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Spata18 G T 5: 73,657,601 probably null Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign 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
IGL01845:Itgam APN 7 128112472 missense probably damaging 1.00
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
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