Mutagenetix > Incidental Mutation

Incidental Mutation 'R0389:Itgam'

31487

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

038595-MU

Accession Numbers

Essential gene?

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

Stock #

R0389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127661812-127717663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127680806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 245 (A245V)

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: A245V

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 damaging
Transcript: ENSMUST00000098015
AA Change: A245V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: A245V

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 damaging
Transcript: ENSMUST00000106240
AA Change: A245V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: A245V

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: A245V

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 damaging
Transcript: ENSMUST00000120355
AA Change: A245V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: A245V

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: A155V

Meta Mutation Damage Score

0.2916

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.5%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	G	A	3: 121,465,053 (GRCm39)	E30K	unknown	Het
Abi3bp	A	T	16: 56,491,670 (GRCm39)	T1319S	possibly damaging	Het
Adam18	T	C	8: 25,119,653 (GRCm39)		probably null	Het
Adgre1	G	A	17: 57,713,839 (GRCm39)	D175N	possibly damaging	Het
Adgrf1	T	C	17: 43,614,679 (GRCm39)		probably null	Het
Ankhd1	A	G	18: 36,777,652 (GRCm39)	S1612G	possibly damaging	Het
Anks1	A	G	17: 28,214,926 (GRCm39)	R458G	possibly damaging	Het
Cacna1g	C	T	11: 94,350,523 (GRCm39)	V441M	probably damaging	Het
Cadps2	A	T	6: 23,321,781 (GRCm39)	V1037E	possibly damaging	Het
Casz1	T	C	4: 149,033,368 (GRCm39)	V1380A	possibly damaging	Het
Cenpq	T	C	17: 41,244,085 (GRCm39)		probably benign	Het
Chrac1	T	C	15: 72,965,376 (GRCm39)	I93T	possibly damaging	Het
Cntnap2	T	A	6: 45,986,571 (GRCm39)	S359T	probably benign	Het
Col6a6	C	A	9: 105,661,403 (GRCm39)	M235I	probably benign	Het
Crat	T	C	2: 30,293,640 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,589,308 (GRCm39)	N169D	probably benign	Het
Dennd1c	T	A	17: 57,374,649 (GRCm39)	T499S	probably benign	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Dync2h1	G	T	9: 7,167,244 (GRCm39)		probably null	Het
Eif3h	C	A	15: 51,662,660 (GRCm39)	V129F	probably damaging	Het
Eno2	A	G	6: 124,739,654 (GRCm39)	F380L	probably damaging	Het
Ergic2	T	A	6: 148,084,700 (GRCm39)	I34F	probably benign	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fam185a	C	T	5: 21,664,283 (GRCm39)	T339M	probably damaging	Het
Fam20b	A	T	1: 156,509,023 (GRCm39)	D396E	probably benign	Het
Fasn	G	T	11: 120,707,008 (GRCm39)	D881E	probably damaging	Het
Fat1	C	A	8: 45,403,385 (GRCm39)	H45Q	probably benign	Het
Fbxw16	A	T	9: 109,261,550 (GRCm39)	C439S	probably benign	Het
Garin1a	T	A	6: 29,281,391 (GRCm39)	V43E	possibly damaging	Het
Gba2	A	T	4: 43,570,832 (GRCm39)	F280Y	probably damaging	Het
Gfm1	A	G	3: 67,365,251 (GRCm39)	I517V	probably benign	Het
Gng13	C	T	17: 25,937,696 (GRCm39)	Q8*	probably null	Het
Golga1	A	T	2: 38,908,453 (GRCm39)	S749T	probably damaging	Het
Gphn	A	T	12: 78,637,433 (GRCm39)	I381F	probably damaging	Het
Grm3	T	C	5: 9,554,794 (GRCm39)	N833D	probably damaging	Het
Gstt2	G	T	10: 75,668,266 (GRCm39)	T163K	probably damaging	Het
Gusb	A	T	5: 130,026,927 (GRCm39)	V388E	probably damaging	Het
Hcrtr2	A	T	9: 76,153,662 (GRCm39)	Y243*	probably null	Het
Hspg2	A	G	4: 137,242,734 (GRCm39)	T650A	possibly damaging	Het
Ints2	C	T	11: 86,139,677 (GRCm39)	V306I	probably damaging	Het
Itga1	T	A	13: 115,128,996 (GRCm39)	D554V	probably benign	Het
Kcnk15	A	G	2: 163,700,243 (GRCm39)	T161A	probably benign	Het
Klhl18	A	T	9: 110,257,749 (GRCm39)	C564S	probably benign	Het
Krt40	T	A	11: 99,432,540 (GRCm39)	R159*	probably null	Het
L3mbtl4	G	A	17: 68,762,775 (GRCm39)	V103M	probably damaging	Het
Lnx2	C	A	5: 146,955,850 (GRCm39)	V649L	possibly damaging	Het
Lpp	A	T	16: 24,426,991 (GRCm39)	Q39H	probably damaging	Het
Lrpprc	A	T	17: 85,060,540 (GRCm39)		probably null	Het
Map3k19	A	T	1: 127,750,152 (GRCm39)	N1066K	probably benign	Het
Mbtps2	G	T	X: 156,351,364 (GRCm39)	T134K	probably benign	Het
Mfng	C	T	15: 78,648,637 (GRCm39)	V147M	possibly damaging	Het
Mks1	T	C	11: 87,748,754 (GRCm39)	S273P	probably benign	Het
Myh2	T	C	11: 67,071,647 (GRCm39)	L488P	probably damaging	Het
Myo15a	A	G	11: 60,369,364 (GRCm39)	N708S	probably benign	Het
Myo6	A	T	9: 80,199,748 (GRCm39)	N1019I	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Ncoa1	T	G	12: 4,345,976 (GRCm39)	N457T	probably benign	Het
Neb	T	C	2: 52,051,489 (GRCm39)		probably null	Het
Nlrp4e	C	A	7: 23,054,628 (GRCm39)	N927K	probably damaging	Het
Npffr2	T	C	5: 89,730,613 (GRCm39)	M181T	probably benign	Het
Nxf7	A	T	X: 134,485,132 (GRCm39)	C495S	possibly damaging	Het
Oas1g	T	C	5: 121,025,592 (GRCm39)	T12A	probably benign	Het
Or11g2	T	A	14: 50,856,036 (GRCm39)	L119Q	probably damaging	Het
Or1e17	T	A	11: 73,831,879 (GRCm39)	V269E	probably benign	Het
Or2g7	C	G	17: 38,378,562 (GRCm39)	R167G	possibly damaging	Het
Or52s1b	A	T	7: 102,822,490 (GRCm39)	V118E	possibly damaging	Het
Or5p60	A	G	7: 107,724,023 (GRCm39)	V149A	probably benign	Het
Papln	C	T	12: 83,830,153 (GRCm39)	Q1008*	probably null	Het
Pcdhb10	A	C	18: 37,545,485 (GRCm39)	D187A	probably damaging	Het
Phf2	T	A	13: 48,957,965 (GRCm39)	E1016D	unknown	Het
Phf8	T	A	X: 150,335,618 (GRCm39)	D197E	probably benign	Het
Pikfyve	A	G	1: 65,235,865 (GRCm39)	H179R	probably damaging	Het
Prkcz	T	A	4: 155,353,597 (GRCm39)	D250V	probably damaging	Het
Prpf4	A	G	4: 62,340,842 (GRCm39)	Y419C	probably damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Prr5	T	A	15: 84,587,152 (GRCm39)	S301T	probably benign	Het
Psg16	T	A	7: 16,829,088 (GRCm39)	I224N	probably benign	Het
Radil	A	G	5: 142,529,226 (GRCm39)	F186L	probably damaging	Het
Reg3g	A	T	6: 78,445,544 (GRCm39)	M1K	probably null	Het
Rps6ka3	A	G	X: 158,100,963 (GRCm39)	Y76C	probably damaging	Het
Rtl1	C	T	12: 109,556,797 (GRCm39)	V1681I	possibly damaging	Het
Sfmbt1	C	T	14: 30,533,464 (GRCm39)	R614C	probably damaging	Het
Slc12a4	A	G	8: 106,678,599 (GRCm39)	S244P	probably benign	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Sptbn1	T	C	11: 30,089,250 (GRCm39)	T671A	possibly damaging	Het
Supt16	A	T	14: 52,411,570 (GRCm39)	N604K	probably damaging	Het
Synj2	G	A	17: 6,080,058 (GRCm39)	V1096I	probably benign	Het
Tas2r129	G	T	6: 132,928,159 (GRCm39)	C32F	probably benign	Het
Tbc1d25	T	C	X: 8,039,108 (GRCm39)	Y140C	probably damaging	Het
Tdrd7	A	G	4: 46,016,987 (GRCm39)	D709G	probably benign	Het
Tfap2d	C	T	1: 19,174,591 (GRCm39)	R15C	possibly damaging	Het
Tgfbi	C	A	13: 56,777,515 (GRCm39)	T333N	probably benign	Het
Tnk1	T	C	11: 69,746,508 (GRCm39)	Y235C	probably damaging	Het
Ttc17	A	G	2: 94,208,439 (GRCm39)	F144S	probably benign	Het
Twnk	G	T	19: 44,996,578 (GRCm39)	G337V	possibly damaging	Het
Unc13a	A	G	8: 72,110,676 (GRCm39)	F464L	probably benign	Het
Usp17le	C	A	7: 104,417,667 (GRCm39)	A492S	probably damaging	Het
Vmn1r213	A	T	13: 23,195,932 (GRCm39)	M172L	probably benign	Het
Vmn1r71	G	A	7: 10,482,238 (GRCm39)	T84I	probably benign	Het
Vmn2r109	C	T	17: 20,761,336 (GRCm39)	V674M	probably damaging	Het
Vmn2r19	A	T	6: 123,312,945 (GRCm39)	I672F	possibly damaging	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Xdh	T	A	17: 74,205,357 (GRCm39)	H1036L	probably damaging	Het
Zfp930	T	A	8: 69,680,948 (GRCm39)	Y214*	probably null	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
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
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'- TTTGAGGCTCAGCAAGACTTTGT -3'
(R):5'- CCACAGAAGTACCAAGCCCAATA -3'

Sequencing Primer
(F):5'- CTGCGATCCTGACTCTGTAG -3'
(R):5'- ATATCTGTACTTCCTACCCC -3'

Posted On

2013-04-24