Mutagenetix > Incidental Mutation

Incidental Mutation 'R0454:Itgam'

39883

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

038654-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0454 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127661812-127717663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127707152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 660 (N660I)

Ref Sequence

ENSEMBL: ENSMUSP00000101849 (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: N661I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: N661I

Domain	Start	End	E-Value	Type
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: N660I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: N660I

Domain	Start	End	E-Value	Type
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
AA Change: N543I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: N543I

Domain	Start	End	E-Value	Type
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: N660I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: N660I

Domain	Start	End	E-Value	Type
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: N661I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: N661I

Domain	Start	End	E-Value	Type
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

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447F04Rik	T	C	X: 65,347,274 (GRCm39)	E91G	unknown	Het
Acot1	A	G	12: 84,064,113 (GRCm39)	Q407R	probably benign	Het
Adcy10	T	A	1: 165,398,297 (GRCm39)	Y1465N	probably damaging	Het
Ahsa2	T	A	11: 23,440,702 (GRCm39)	I249F	probably damaging	Het
Arhgap10	T	C	8: 77,977,594 (GRCm39)	N721S	probably damaging	Het
Arrdc4	T	G	7: 68,391,619 (GRCm39)	E216A	probably damaging	Het
Axin1	T	C	17: 26,392,637 (GRCm39)	V306A	probably benign	Het
Cct3	T	C	3: 88,210,173 (GRCm39)		probably null	Het
Cfap58	G	A	19: 47,963,119 (GRCm39)		probably null	Het
Chd9	T	C	8: 91,699,859 (GRCm39)	S49P	possibly damaging	Het
Clcn2	C	A	16: 20,529,178 (GRCm39)		probably null	Het
Col26a1	T	C	5: 136,783,047 (GRCm39)	N286D	probably benign	Het
Cpt1b	T	A	15: 89,308,596 (GRCm39)	I111F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,061 (GRCm39)	I30N	probably damaging	Het
Ddc	T	G	11: 11,830,587 (GRCm39)	D19A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,537 (GRCm39)		probably null	Het
Evc2	T	A	5: 37,574,828 (GRCm39)	C1028S	possibly damaging	Het
Fam228a	T	C	12: 4,781,457 (GRCm39)	E134G	probably damaging	Het
Fasl	T	C	1: 161,615,523 (GRCm39)	E111G	probably benign	Het
Fbxw10	A	G	11: 62,767,564 (GRCm39)	N800S	possibly damaging	Het
Fras1	T	C	5: 96,910,524 (GRCm39)	S3318P	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gad1	T	A	2: 70,409,545 (GRCm39)	M212K	probably damaging	Het
Gm17455	T	G	10: 60,238,752 (GRCm39)	S6A	probably benign	Het
Grm5	T	C	7: 87,779,997 (GRCm39)	S1146P	probably damaging	Het
Gsn	T	C	2: 35,194,651 (GRCm39)	L649P	probably damaging	Het
H2-DMb1	A	G	17: 34,374,685 (GRCm39)	T112A	probably benign	Het
Hcn3	T	A	3: 89,060,201 (GRCm39)	I148F	probably damaging	Het
Hdac10	T	C	15: 89,009,961 (GRCm39)		probably null	Het
Hk3	C	A	13: 55,156,518 (GRCm39)	D619Y	probably damaging	Het
Ifi44	T	A	3: 151,451,134 (GRCm39)	R272S	possibly damaging	Het
Il1rap	A	C	16: 26,517,625 (GRCm39)	D275A	probably damaging	Het
Irag2	A	G	6: 145,113,710 (GRCm39)	R293G	possibly damaging	Het
Itpr3	T	C	17: 27,332,793 (GRCm39)	M1853T	probably benign	Het
Lrrc8c	A	C	5: 105,754,965 (GRCm39)	K247Q	probably damaging	Het
Map3k21	T	C	8: 126,668,858 (GRCm39)	S815P	probably benign	Het
Mast4	A	G	13: 102,888,068 (GRCm39)	S1114P	probably damaging	Het
Myh8	C	T	11: 67,194,591 (GRCm39)	Q1601*	probably null	Het
Nhlrc2	A	G	19: 56,558,959 (GRCm39)	D148G	probably damaging	Het
Nos1	T	A	5: 118,081,385 (GRCm39)	S1196T	probably benign	Het
Nsmaf	C	T	4: 6,424,874 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,890,449 (GRCm39)	D7361G	unknown	Het
Or2t35	T	C	14: 14,407,777 (GRCm38)	V183A	probably damaging	Het
Or52ad1	C	A	7: 102,996,085 (GRCm39)	A17S	probably benign	Het
Or5bw2	C	T	7: 6,573,359 (GRCm39)	A123V	probably damaging	Het
Pank3	T	G	11: 35,668,536 (GRCm39)	M175R	probably benign	Het
Papolg	A	G	11: 23,829,868 (GRCm39)		probably null	Het
Pcdhb21	G	A	18: 37,647,566 (GRCm39)	D232N	probably damaging	Het
Pcdhb22	T	C	18: 37,651,925 (GRCm39)	F131S	probably damaging	Het
Pik3r6	G	A	11: 68,419,608 (GRCm39)	A140T	possibly damaging	Het
Pinlyp	T	C	7: 24,241,947 (GRCm39)	T87A	possibly damaging	Het
Pld1	T	C	3: 28,178,724 (GRCm39)	S873P	probably damaging	Het
Pld5	T	A	1: 176,102,295 (GRCm39)	Y49F	probably benign	Het
Polq	T	C	16: 36,855,252 (GRCm39)	V449A	probably damaging	Het
Prkca	A	G	11: 107,869,106 (GRCm39)	V69A	probably benign	Het
Ptk6	A	G	2: 180,844,075 (GRCm39)	S75P	possibly damaging	Het
Ptprq	G	A	10: 107,418,391 (GRCm39)	Q1662*	probably null	Het
Ptprt	C	A	2: 161,395,742 (GRCm39)	A1144S	probably damaging	Het
Rrm1	T	A	7: 102,116,133 (GRCm39)	W684R	probably damaging	Het
Ryr1	T	A	7: 28,735,500 (GRCm39)	M4093L	probably damaging	Het
Scnn1a	C	T	6: 125,299,189 (GRCm39)	L90F	probably damaging	Het
Slc25a19	G	T	11: 115,508,423 (GRCm39)	Y188*	probably null	Het
Slc31a1	C	T	4: 62,303,866 (GRCm39)		probably benign	Het
Slc5a11	C	G	7: 122,864,458 (GRCm39)	S351R	possibly damaging	Het
Slc6a17	A	G	3: 107,384,183 (GRCm39)	L387P	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spam1	T	A	6: 24,797,837 (GRCm39)	L331Q	probably damaging	Het
Spata32	A	G	11: 103,100,125 (GRCm39)	W127R	probably damaging	Het
Spring1	A	G	5: 118,393,886 (GRCm39)	E88G	possibly damaging	Het
Spta1	T	G	1: 174,041,508 (GRCm39)	I1324S	probably damaging	Het
St6galnac4	A	G	2: 32,484,330 (GRCm39)	Y176C	probably damaging	Het
Stk10	A	G	11: 32,546,724 (GRCm39)	E327G	probably damaging	Het
Stxbp5l	T	A	16: 36,954,646 (GRCm39)	Y912F	possibly damaging	Het
Tchp	G	A	5: 114,858,243 (GRCm39)	E459K	probably benign	Het
Terf2	C	T	8: 107,822,842 (GRCm39)	W100*	probably null	Het
Thoc2l	T	G	5: 104,666,077 (GRCm39)	S200A	probably benign	Het
Thrsp	T	C	7: 97,066,634 (GRCm39)	N26S	probably damaging	Het
Tln1	C	A	4: 43,553,504 (GRCm39)	R297L	probably benign	Het
Tmeff2	C	A	1: 50,967,234 (GRCm39)	T43N	possibly damaging	Het
Tmx1	C	T	12: 70,499,947 (GRCm39)	A2V	possibly damaging	Het
Tnks1bp1	T	A	2: 84,902,481 (GRCm39)	L1053Q	probably damaging	Het
Trmt10b	A	T	4: 45,304,286 (GRCm39)	K107N	probably damaging	Het
Trpa1	A	T	1: 14,955,972 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,783,287 (GRCm39)	K3371R	probably damaging	Het
Tuba3b	G	A	6: 145,563,995 (GRCm39)	V14I	probably benign	Het
Usp19	T	C	9: 108,371,439 (GRCm39)		probably null	Het
Usp28	C	A	9: 48,950,401 (GRCm39)	D615E	possibly damaging	Het
Utp20	T	C	10: 88,657,931 (GRCm39)	D43G	probably benign	Het
Vmn1r58	T	G	7: 5,413,997 (GRCm39)	K78Q	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,327 (GRCm39)	M96V	probably benign	Het
Wdr90	T	C	17: 26,079,023 (GRCm39)	E273G	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zscan21	T	C	5: 138,131,865 (GRCm39)	I463T	possibly damaging	Het

Other mutations in Itgam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- GGCTAACTGAGCCACAGACTTCTC -3'
(R):5'- GCTGTCCCATTCATTCTAGCCAGG -3'

Sequencing Primer
(F):5'- TAAGGATCTCACAATGGATGGCTTG -3'
(R):5'- CATTCTAGCCAGGCTTAAAAAGG -3'

Posted On

2013-05-23