Mutagenetix > Incidental Mutation

Incidental Mutation 'R1809:Itgam'

203703

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

039838-MU

Accession Numbers

Essential gene?

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

Stock #

R1809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127661812-127717663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127670109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 134 (P134S)

Ref Sequence

ENSEMBL: ENSMUSP00000113957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064821] [ENSMUST00000098015] [ENSMUST00000106240] [ENSMUST00000106242] [ENSMUST00000120355] [ENSMUST00000156593]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064821
AA Change: P134S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000068468
Gene: ENSMUSG00000030786
AA Change: P134S

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: P134S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
AA Change: P134S

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: P134S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101847
Gene: ENSMUSG00000030786
AA Change: P134S

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: P134S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101849
Gene: ENSMUSG00000030786
AA Change: P134S

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

noncoding transcript
Transcript: ENSMUST00000119696

SMART Domains

Protein: ENSMUSP00000113412
Gene: ENSMUSG00000030786

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
PDB:3K72\|C	17	79	2e-17	PDB
SCOP:d1m1xa4	17	81	6e-18	SMART
Blast:Int_alpha	30	79	5e-29	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120355
AA Change: P134S

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113957
Gene: ENSMUSG00000030786
AA Change: P134S

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

probably benign
Transcript: ENSMUST00000156593

SMART Domains

Protein: ENSMUSP00000121676
Gene: ENSMUSG00000030786

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
PDB:3K72\|C	17	79	2e-17	PDB
SCOP:d1m1xa4	17	81	9e-18	SMART
Blast:Int_alpha	30	79	3e-29	BLAST

Meta Mutation Damage Score

0.1575

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (107/111)

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
Ablim2	A	G	5: 36,000,614 (GRCm39)		probably benign	Het
Adamts20	C	T	15: 94,238,968 (GRCm39)	S750N	probably damaging	Het
Adh6a	G	A	3: 138,036,722 (GRCm39)	R370H	possibly damaging	Het
Akr1b7	A	G	6: 34,396,046 (GRCm39)	N183D	probably damaging	Het
Aktip	A	T	8: 91,856,348 (GRCm39)	I43N	probably damaging	Het
Ankrd26	A	T	6: 118,502,883 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,688,717 (GRCm39)	T144I	possibly damaging	Het
Anpep	G	T	7: 79,491,571 (GRCm39)	D143E	probably benign	Het
Aox1	C	A	1: 58,333,484 (GRCm39)	Q234K	probably benign	Het
Ap1g1	C	G	8: 110,559,814 (GRCm39)		probably benign	Het
Arhgef4	G	A	1: 34,849,636 (GRCm39)		probably null	Het
Arsj	A	G	3: 126,231,944 (GRCm39)	Y230C	possibly damaging	Het
Asmt	C	T	X: 169,109,480 (GRCm39)		probably benign	Het
Astl	A	T	2: 127,187,405 (GRCm39)	K72N	probably damaging	Het
Atp2b2	G	A	6: 113,780,704 (GRCm39)		probably benign	Het
Baiap2l1	A	C	5: 144,261,365 (GRCm39)		probably null	Het
C7	A	T	15: 5,063,821 (GRCm39)	N193K	probably damaging	Het
Cacna2d4	G	T	6: 119,247,785 (GRCm39)	R362L	probably damaging	Het
Cct4	T	A	11: 22,947,615 (GRCm39)	D189E	probably benign	Het
Cd300lg	G	A	11: 101,933,938 (GRCm39)	G62S	probably benign	Het
Cdk14	T	A	5: 5,060,901 (GRCm39)	M307L	probably damaging	Het
Cfi	G	A	3: 129,666,768 (GRCm39)		probably null	Het
Clec2g	G	T	6: 128,957,273 (GRCm39)		probably null	Het
Cntnap2	T	C	6: 46,965,609 (GRCm39)	S807P	probably damaging	Het
Col6a3	T	A	1: 90,755,671 (GRCm39)	H206L	probably damaging	Het
Ct55	A	G	X: 52,735,716 (GRCm39)	E99G	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Degs1l	T	C	1: 180,887,252 (GRCm39)	I279T	probably damaging	Het
Dlec1	T	C	9: 118,965,767 (GRCm39)	V1058A	probably benign	Het
Dpp9	A	G	17: 56,506,038 (GRCm39)	Y454H	probably damaging	Het
Drosha	G	A	15: 12,890,198 (GRCm39)	G920R	probably null	Het
Duox2	A	G	2: 122,114,378 (GRCm39)	S1142P	possibly damaging	Het
Fam13a	C	T	6: 58,942,045 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,327,023 (GRCm39)	R18G	probably benign	Het
Foxa1	A	G	12: 57,589,527 (GRCm39)	V231A	probably damaging	Het
Gm4787	A	T	12: 81,425,303 (GRCm39)	M285K	possibly damaging	Het
Gm5084	T	A	13: 60,360,320 (GRCm39)		noncoding transcript	Het
Gm6788	G	A	19: 28,740,586 (GRCm39)		noncoding transcript	Het
Gm9922	G	T	14: 101,966,841 (GRCm39)		probably benign	Het
Gtf3c4	A	T	2: 28,723,988 (GRCm39)	Y440*	probably null	Het
Helq	A	G	5: 100,921,820 (GRCm39)	S795P	probably damaging	Het
Helz	T	A	11: 107,489,997 (GRCm39)	S151T	possibly damaging	Het
Irgm1	T	C	11: 48,757,440 (GRCm39)	T124A	probably benign	Het
Kdm6a	T	C	X: 18,102,923 (GRCm39)	Y217H	probably benign	Het
Kif6	T	C	17: 50,208,812 (GRCm39)	L744P	probably benign	Het
Kmt2c	C	T	5: 25,489,190 (GRCm39)	R1203H	probably damaging	Het
Ksr2	A	G	5: 117,693,535 (GRCm39)	T328A	probably damaging	Het
Lig1	T	C	7: 13,034,281 (GRCm39)		probably benign	Het
Lpar3	G	A	3: 145,946,303 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,584,095 (GRCm39)	F285S	possibly damaging	Het
Marchf7	A	G	2: 60,062,637 (GRCm39)	D148G	probably benign	Het
Mcee	T	C	7: 64,050,049 (GRCm39)	L60S	probably damaging	Het
Mob2	A	G	7: 141,570,111 (GRCm39)	I81T	probably damaging	Het
Mphosph8	T	A	14: 56,909,909 (GRCm39)	D87E	probably damaging	Het
Msantd5f9	A	G	4: 73,835,754 (GRCm39)	F237L	probably benign	Het
Myo1g	T	C	11: 6,462,283 (GRCm39)	T560A	probably benign	Het
Nagk	C	T	6: 83,774,169 (GRCm39)	T42I	probably benign	Het
Naip1	G	T	13: 100,562,747 (GRCm39)	T806K	probably benign	Het
Ncor2	A	G	5: 125,195,857 (GRCm39)		probably benign	Het
Ocln	G	T	13: 100,647,967 (GRCm39)	Y401*	probably null	Het
Odad2	T	A	18: 7,211,630 (GRCm39)	Y748F	probably benign	Het
Oma1	T	A	4: 103,182,374 (GRCm39)	N292K	probably damaging	Het
Or8b55	G	A	9: 38,727,443 (GRCm39)	V215I	probably benign	Het
Ovch2	T	A	7: 107,389,412 (GRCm39)		probably null	Het
Pcdhb16	T	C	18: 37,611,441 (GRCm39)	F134L	probably damaging	Het
Pipox	A	T	11: 77,772,360 (GRCm39)	Y337N	probably benign	Het
Polr3b	A	G	10: 84,528,865 (GRCm39)	D763G	probably damaging	Het
Pygo1	T	A	9: 72,852,078 (GRCm39)	N88K	probably damaging	Het
Rab3gap1	T	C	1: 127,862,251 (GRCm39)	M674T	probably damaging	Het
Rbm25	T	C	12: 83,719,501 (GRCm39)		probably benign	Het
Rbm26	C	T	14: 105,354,542 (GRCm39)		probably benign	Het
Rbms2	G	A	10: 127,974,055 (GRCm39)	T187I	possibly damaging	Het
Rnase11	T	A	14: 51,287,184 (GRCm39)	R123S	probably benign	Het
Rngtt	A	G	4: 33,443,614 (GRCm39)	N485D	probably benign	Het
Rp1l1	A	T	14: 64,265,415 (GRCm39)	M334L	probably benign	Het
Rps9	T	A	7: 3,707,726 (GRCm39)	L56Q	probably damaging	Het
Saysd1	C	A	14: 20,133,170 (GRCm39)		probably benign	Het
Sema4d	C	T	13: 51,867,727 (GRCm39)		probably null	Het
Shisa5	A	T	9: 108,869,998 (GRCm39)	D34V	probably damaging	Het
Skil	A	G	3: 31,171,655 (GRCm39)	D547G	probably damaging	Het
Slc2a5	T	A	4: 150,227,514 (GRCm39)	F444L	probably damaging	Het
Slc9b2	T	G	3: 135,022,892 (GRCm39)	C10G	possibly damaging	Het
Sorcs2	G	T	5: 36,386,564 (GRCm39)		probably benign	Het
Stk17b	T	G	1: 53,805,140 (GRCm39)	K140N	possibly damaging	Het
Stradb	T	A	1: 59,033,549 (GRCm39)	L404Q	possibly damaging	Het
Synj2	T	C	17: 6,076,826 (GRCm39)	M432T	possibly damaging	Het
Tanc1	G	T	2: 59,630,441 (GRCm39)	R800L	probably damaging	Het
Tenm4	A	G	7: 96,522,987 (GRCm39)	M1473V	probably benign	Het
Tesc	A	G	5: 118,199,667 (GRCm39)	I190V	probably benign	Het
Tex15	T	C	8: 34,064,262 (GRCm39)	F1231L	probably benign	Het
Thrsp	T	C	7: 97,066,332 (GRCm39)	I127V	probably benign	Het
Tlr6	A	T	5: 65,111,055 (GRCm39)	C617*	probably null	Het
Trank1	A	T	9: 111,221,893 (GRCm39)	I2877F	probably benign	Het
Tut4	T	A	4: 108,406,552 (GRCm39)	H1373Q	probably damaging	Het
Ucp1	T	C	8: 84,024,496 (GRCm39)	S274P	probably damaging	Het
Ucp2	T	A	7: 100,147,606 (GRCm39)	V195E	probably damaging	Het
Vars2	T	C	17: 35,973,108 (GRCm39)	T394A	probably damaging	Het
Vmn1r1	A	G	1: 181,985,371 (GRCm39)	V98A	possibly damaging	Het
Vmn1r225	A	G	17: 20,722,918 (GRCm39)	I120V	probably benign	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r25	A	G	6: 123,802,337 (GRCm39)	V522A	probably benign	Het
Vmn2r70	T	C	7: 85,215,130 (GRCm39)	I135V	probably benign	Het
Vwf	T	C	6: 125,567,138 (GRCm39)		probably benign	Het
Zfp446	T	C	7: 12,713,048 (GRCm39)	F29L	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
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'- TTGCCCTCCAAAGGAAGAGG -3'
(R):5'- CTTGAGCTCCTCCTCCTAGAAG -3'

Sequencing Primer
(F):5'- CCTCCAAAGGAAGAGGGTCTC -3'
(R):5'- TCCTCCTAGAAGTGCGGAG -3'

Posted On

2014-06-23