Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Itgam'

368452

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

042418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127661812-127717663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127715445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1046 (N1046K)

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: N1046K

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: N1045K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: N1045K

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: N928K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: N928K

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

SMART Domains

Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: N1045K

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: N1046K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: N1046K

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

Predicted Effect

not run
Transcript: ENSMUST00000126475
AA Change: N956K

Predicted Effect

probably benign
Transcript: ENSMUST00000134694

SMART Domains

Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29	39	82	1.1e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,202,236 (GRCm39)	T390P	possibly damaging	Het
Acss3	A	T	10: 106,859,563 (GRCm39)	Y345*	probably null	Het
Adam26b	A	T	8: 43,973,764 (GRCm39)	S413T	probably benign	Het
Angpt2	T	A	8: 18,764,098 (GRCm39)	Q148L	probably damaging	Het
Ank3	T	A	10: 69,823,981 (GRCm39)	Y883*	probably null	Het
Ankrd52	A	G	10: 128,216,814 (GRCm39)	K190E	possibly damaging	Het
Anks1b	A	G	10: 89,999,137 (GRCm39)	R415G	probably damaging	Het
Ano3	T	A	2: 110,715,264 (GRCm39)	Q58L	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Arhgap39	A	T	15: 76,610,931 (GRCm39)	M924K	possibly damaging	Het
AU040320	A	G	4: 126,741,008 (GRCm39)	M910V	possibly damaging	Het
BC051019	T	A	7: 109,315,553 (GRCm39)	H86L	probably benign	Het
C1qbp	G	A	11: 70,870,856 (GRCm39)	Q151*	probably null	Het
C4b	G	T	17: 34,953,117 (GRCm39)	D1069E	probably benign	Het
Casp1	C	T	9: 5,303,020 (GRCm39)	T158I	probably benign	Het
Casq1	T	C	1: 172,044,404 (GRCm39)	D141G	probably damaging	Het
Ccdc33	T	A	9: 57,937,240 (GRCm39)	E653V	probably damaging	Het
Cd180	C	T	13: 102,839,330 (GRCm39)	T71M	probably damaging	Het
Cdk4	T	C	10: 126,900,570 (GRCm39)	L112P	probably damaging	Het
Celf2	A	G	2: 6,554,714 (GRCm39)	F425S	probably damaging	Het
Chrm3	A	T	13: 9,927,698 (GRCm39)	V446E	probably benign	Het
Chst9	A	T	18: 15,586,107 (GRCm39)	L152H	probably damaging	Het
Cib2	A	G	9: 54,457,087 (GRCm39)		probably null	Het
Clec18a	T	C	8: 111,798,717 (GRCm39)	S366G	probably damaging	Het
Crebbp	A	G	16: 3,997,983 (GRCm39)	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,870,919 (GRCm39)		probably null	Het
Ddi1	T	A	9: 6,265,761 (GRCm39)	M203L	probably benign	Het
Ddx20	G	T	3: 105,590,485 (GRCm39)	S270R	probably benign	Het
Eddm13	A	T	7: 6,269,317 (GRCm39)	K31*	probably null	Het
Espnl	A	T	1: 91,272,146 (GRCm39)	E458V	probably damaging	Het
Fat3	T	C	9: 15,909,780 (GRCm39)	D2074G	probably damaging	Het
Fcf1	A	G	12: 85,020,902 (GRCm39)	T61A	probably benign	Het
Fkbp15	T	C	4: 62,226,234 (GRCm39)	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661 (GRCm38)	V1137A	probably benign	Het
Fosb	C	A	7: 19,043,313 (GRCm39)	C15F	probably damaging	Het
Frem2	A	T	3: 53,424,162 (GRCm39)	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831 (GRCm38)	I28V	probably damaging	Het
Gm4922	G	T	10: 18,659,916 (GRCm39)	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,119,274 (GRCm39)	R627W	probably damaging	Het
Hephl1	T	A	9: 14,970,467 (GRCm39)	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,997,237 (GRCm39)	Q61L	probably damaging	Het
Itgav	G	A	2: 83,586,154 (GRCm39)	C138Y	probably damaging	Het
Itih4	A	T	14: 30,611,867 (GRCm39)	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,282,254 (GRCm39)	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,708,618 (GRCm39)	V986M	probably damaging	Het
Lamb3	T	A	1: 193,022,194 (GRCm39)	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,367,717 (GRCm39)	N282K	probably damaging	Het
Map3k20	T	A	2: 72,272,048 (GRCm39)	H725Q	probably benign	Het
Mink1	A	G	11: 70,489,867 (GRCm39)	N81S	probably damaging	Het
Mmp21	A	G	7: 133,276,759 (GRCm39)	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,466,873 (GRCm39)	W1297R	probably damaging	Het
Myh8	T	C	11: 67,170,789 (GRCm39)	M95T	probably damaging	Het
Myo7b	A	T	18: 32,133,158 (GRCm39)		probably null	Het
Nanog	A	G	6: 122,684,874 (GRCm39)	M20V	probably benign	Het
Ncapd3	A	G	9: 26,963,146 (GRCm39)	I484V	probably benign	Het
Ndufa12	A	T	10: 94,056,620 (GRCm39)	N116I	probably benign	Het
Nedd4l	A	G	18: 65,337,016 (GRCm39)	I668V	possibly damaging	Het
Nhsl3	C	A	4: 129,117,095 (GRCm39)	R523L	probably damaging	Het
Nobox	T	C	6: 43,282,480 (GRCm39)	D309G	probably benign	Het
Npnt	A	G	3: 132,596,523 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,762,477 (GRCm39)	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,568,502 (GRCm39)	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14j8	T	C	17: 38,263,633 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	C	G	7: 106,340,998 (GRCm39)	V48L	probably benign	Het
Or4s2b	T	A	2: 88,508,731 (GRCm39)	N177K	possibly damaging	Het
Or56a3	T	C	7: 104,735,844 (GRCm39)		probably benign	Het
Or5ac20	A	T	16: 59,104,821 (GRCm39)	V13D	probably damaging	Het
Or5an10	A	G	19: 12,276,305 (GRCm39)	Y64H	possibly damaging	Het
Or8k32	T	C	2: 86,369,224 (GRCm39)	T10A	possibly damaging	Het
Osm	A	T	11: 4,188,435 (GRCm39)	M21L	probably benign	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otud4	T	G	8: 80,393,402 (GRCm39)	S493A	possibly damaging	Het
Pars2	A	G	4: 106,508,308 (GRCm39)		probably benign	Het
Phlda3	T	A	1: 135,694,557 (GRCm39)	V124E	possibly damaging	Het
Pias4	T	C	10: 80,993,326 (GRCm39)	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,739,777 (GRCm39)	L375P	probably benign	Het
Pole2	T	C	12: 69,273,139 (GRCm39)	I48V	probably benign	Het
Prrc2c	T	C	1: 162,538,050 (GRCm39)	R527G	unknown	Het
Rasgrf2	G	T	13: 92,136,135 (GRCm39)	N592K	probably damaging	Het
Rbm7	A	G	9: 48,406,474 (GRCm39)	L26P	probably damaging	Het
Rhag	A	G	17: 41,142,181 (GRCm39)	H208R	probably benign	Het
Rnf17	A	G	14: 56,671,812 (GRCm39)	E268G	probably damaging	Het
Rnf220	A	G	4: 117,146,252 (GRCm39)	V23A	probably benign	Het
Rnf7	A	T	9: 96,360,472 (GRCm39)	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,739,448 (GRCm39)	R188S	possibly damaging	Het
Senp6	T	A	9: 79,997,140 (GRCm39)	N51K	probably benign	Het
Skint3	C	A	4: 112,113,095 (GRCm39)	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,400,096 (GRCm39)	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,758,690 (GRCm39)	G111R	probably damaging	Het
Smarca1	T	C	X: 46,972,944 (GRCm39)	D132G	probably null	Het
Snrnp48	C	T	13: 38,405,299 (GRCm39)	R299W	probably damaging	Het
Sspo	G	A	6: 48,437,705 (GRCm39)	G1413D	probably benign	Het
Star	T	A	8: 26,298,644 (GRCm39)	H16Q	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Sulf2	T	C	2: 165,931,215 (GRCm39)	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,680,248 (GRCm39)	S6P	possibly damaging	Het
Syne2	A	G	12: 76,067,165 (GRCm39)	D4289G	probably benign	Het
Szrd1	A	T	4: 140,867,001 (GRCm39)		probably null	Het
Tada1	T	C	1: 166,219,523 (GRCm39)	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,641,932 (GRCm39)	Y136F	probably benign	Het
Tbx20	T	A	9: 24,637,010 (GRCm39)	H359L	probably benign	Het
Thbs4	G	T	13: 92,899,314 (GRCm39)	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,497,740 (GRCm39)	H164R	probably damaging	Het
Trmu	T	C	15: 85,767,006 (GRCm39)	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 106,560,155 (GRCm39)	Q36K	probably benign	Het
Ttc28	T	A	5: 111,372,083 (GRCm39)	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,579,201 (GRCm39)	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 87,984,009 (GRCm39)	M269K	probably damaging	Het
Urb1	A	T	16: 90,566,443 (GRCm39)	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,269,855 (GRCm39)	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,370,949 (GRCm39)	N699S	probably damaging	Het
Vps35	A	T	8: 86,005,486 (GRCm39)		probably null	Het
Yipf1	G	T	4: 107,193,396 (GRCm39)		probably null	Het
Zfp395	A	G	14: 65,623,990 (GRCm39)	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,630,656 (GRCm39)	D402G	probably damaging	Het
Zfp652	T	C	11: 95,640,435 (GRCm39)	V120A	probably damaging	Het
Zp3r	T	C	1: 130,510,629 (GRCm39)	I364M	probably 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
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
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'- ACTCCAATTTCCGGGATCAGC -3'
(R):5'- GGCAAACGCAGAGTCATTAAAC -3'

Sequencing Primer
(F):5'- CCAATTTCCGGGATCAGCTTGAAAG -3'
(R):5'- TAAACAGGATCTCAGTGCTGCTC -3'

Posted On

2016-02-04