Incidental Mutation 'R4708:Itgam'
ID 355415
Institutional Source Beutler Lab
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
MMRRC Submission 042017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4708 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127661812-127717663 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127700709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 493 (V493A)
Ref Sequence ENSEMBL: ENSMUSP00000113957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: V493A

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: V493A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: V493A

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
SMART Domains Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: V493A

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: V493A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: V493A

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 not run
Transcript: ENSMUST00000126475
AA Change: V403A
Meta Mutation Damage Score 0.4585 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,261,309 (GRCm39) G2D probably damaging Het
4930505A04Rik T C 11: 30,404,717 (GRCm39) Y62C probably damaging Het
Aadacl4 A C 4: 144,349,899 (GRCm39) K385N probably benign Het
Abcb4 A T 5: 8,965,125 (GRCm39) T332S possibly damaging Het
Aco2 G A 15: 81,794,117 (GRCm39) probably null Het
Aplf G T 6: 87,640,739 (GRCm39) S69Y probably damaging Het
Arhgap27 A G 11: 103,224,388 (GRCm39) probably benign Het
B4galnt1 T A 10: 127,005,684 (GRCm39) Y262N probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc62 T G 5: 124,068,925 (GRCm39) probably null Het
Cd109 T A 9: 78,579,871 (GRCm39) I649K probably benign Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cep290 A G 10: 100,359,126 (GRCm39) K952R probably benign Het
Ces2a A G 8: 105,463,938 (GRCm39) H190R probably benign Het
Clec14a A G 12: 58,314,489 (GRCm39) S378P probably benign Het
Col27a1 A G 4: 63,202,150 (GRCm39) Q947R probably benign Het
Dennd3 A G 15: 73,395,344 (GRCm39) T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 (GRCm39) M486L probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eif4enif1 T G 11: 3,170,323 (GRCm39) H125Q probably damaging Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Fubp3 C T 2: 31,498,122 (GRCm39) T92I probably benign Het
Gm19426 T C 2: 84,573,803 (GRCm39) probably null Het
Gtf2ird2 A G 5: 134,245,140 (GRCm39) H466R probably damaging Het
Hdac5 T C 11: 102,093,019 (GRCm39) S573G probably damaging Het
Iars2 A T 1: 185,021,554 (GRCm39) M916K probably benign Het
Insr A T 8: 3,261,346 (GRCm39) probably benign Het
Ivl T A 3: 92,479,057 (GRCm39) K336I probably damaging Het
Kcng2 A G 18: 80,366,067 (GRCm39) I95T probably damaging Het
Lap3 A G 5: 45,668,480 (GRCm39) R431G probably damaging Het
Lrrc66 T C 5: 73,787,005 (GRCm39) H115R probably benign Het
Morc3 T C 16: 93,670,126 (GRCm39) V767A probably benign Het
Mttp A G 3: 137,839,859 (GRCm39) probably benign Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nat9 G A 11: 115,074,269 (GRCm39) T133M probably damaging Het
Nectin4 T C 1: 171,212,714 (GRCm39) I349T probably benign Het
Nlrp4a A G 7: 26,163,533 (GRCm39) E900G probably benign Het
Nlrp9c A T 7: 26,084,265 (GRCm39) M438K probably benign Het
Or2y14 T A 11: 49,405,216 (GRCm39) Y250* probably null Het
Or52p2 A T 7: 102,237,043 (GRCm39) D302E probably benign Het
Or5b21 A T 19: 12,839,261 (GRCm39) I41F probably benign Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pde6c G A 19: 38,169,341 (GRCm39) E804K possibly damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Ptprs A G 17: 56,735,067 (GRCm39) W216R probably damaging Het
Rhof T A 5: 123,258,454 (GRCm39) T126S probably benign Het
Riox2 A G 16: 59,296,045 (GRCm39) I49V probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rusf1 A G 7: 127,873,852 (GRCm39) V345A probably benign Het
Shld2 A G 14: 33,989,790 (GRCm39) V372A probably benign Het
Spata31e2 A T 1: 26,723,521 (GRCm39) V553D possibly damaging Het
Tmc6 A T 11: 117,659,774 (GRCm39) C750S probably benign Het
Tmem231 C A 8: 112,660,418 (GRCm39) probably benign Het
Tmem94 T A 11: 115,677,121 (GRCm39) I131N possibly damaging Het
Tmx3 T C 18: 90,539,163 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,123 (GRCm39) T245I possibly damaging Het
Ttbk2 C A 2: 120,570,342 (GRCm39) R1201S probably damaging Het
Vmn2r102 A T 17: 19,914,576 (GRCm39) M714L probably benign Het
Vmn2r109 A G 17: 20,761,605 (GRCm39) L584S probably damaging Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Vnn1 T A 10: 23,773,250 (GRCm39) D92E probably benign Het
Zan T C 5: 137,444,974 (GRCm39) I1762V unknown Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfhx4 A G 3: 5,310,563 (GRCm39) probably null Het
Zfp560 T C 9: 20,263,214 (GRCm39) E54G possibly damaging Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zmynd11 A C 13: 9,745,789 (GRCm39) V188G probably damaging 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
IGL02491:Itgam APN 7 127,715,190 (GRCm39) missense possibly damaging 0.71
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
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
Predicted Primers PCR Primer
(F):5'- TCCTAGATTCTTCTCAGGTGGAAAG -3'
(R):5'- AATGGCCACATCTGTCAGTTTG -3'

Sequencing Primer
(F):5'- AGATTCTTCTCAGGTGGAAAGAGGTG -3'
(R):5'- ACGTCTCCCAGCACTGTCAG -3'
Posted On 2015-10-21