Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03156:Scara3'

411277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scara3

Ensembl Gene

ENSMUSG00000034463

Gene Name

scavenger receptor class A, member 3

Synonyms

C130058N24Rik

Accession Numbers

Genbank: NM_172604; MGI: 2444418

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL03156

Quality Score

Status

Chromosome

Chromosomal Location

65919394-65953935 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65931154 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 338 (R338H)

Ref Sequence

ENSEMBL: ENSMUSP00000046525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042046]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042046
AA Change: R338H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: R338H

Domain	Start	End	E-Value	Type
transmembrane domain	55	77	N/A	INTRINSIC
coiled coil region	117	155	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
Pfam:Collagen	455	513	3.1e-12	PFAM
Pfam:Collagen	499	558	4.2e-11	PFAM
Pfam:Collagen	544	606	2.9e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,105,750	I102K	possibly damaging	Het
4930430A15Rik	T	C	2: 111,200,412	D12G	possibly damaging	Het
Abca16	T	C	7: 120,423,851	I70T	possibly damaging	Het
Acot11	A	G	4: 106,754,136	Y365H	probably damaging	Het
Bdp1	A	G	13: 100,061,036	V947A	probably benign	Het
Ccdc159	G	T	9: 21,929,475	V113L	probably benign	Het
Cep350	T	C	1: 155,858,042	D3035G	probably damaging	Het
Clca1	T	A	3: 145,013,911	I433F	probably damaging	Het
Cntn5	T	C	9: 9,673,877	Y740C	probably damaging	Het
Dennd5a	C	A	7: 109,919,255		probably benign	Het
Des	G	A	1: 75,362,996	E333K	probably damaging	Het
Dnah7a	T	C	1: 53,605,824	R1018G	probably damaging	Het
Eif2b2	G	T	12: 85,219,721	A54S	probably damaging	Het
Gm7276	C	T	18: 77,185,603		probably benign	Het
Hsbp1l1	A	G	18: 80,235,519		probably benign	Het
Iars	G	A	13: 49,703,179	G303S	possibly damaging	Het
Il18r1	A	G	1: 40,498,368	E431G	possibly damaging	Het
Lrrc14b	A	G	13: 74,363,904	V19A	probably benign	Het
Map1lc3a	T	A	2: 155,277,009	I31N	probably damaging	Het
Obscn	T	C	11: 59,054,896	Y4163C	probably damaging	Het
Olfr478	T	A	7: 108,032,351		probably benign	Het
Pcsk1	A	G	13: 75,131,951	T632A	probably benign	Het
Ppp1r15a	A	G	7: 45,525,171	L71P	possibly damaging	Het
Ptgs2	T	G	1: 150,105,477	F504V	probably damaging	Het
Rimbp2	T	G	5: 128,771,757	R908S	probably damaging	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Sap30l	T	C	11: 57,806,168		probably null	Het
Serpina12	T	C	12: 104,037,899	Y158C	probably damaging	Het
Tmem237	A	T	1: 59,109,127	D148E	probably damaging	Het
Trmt13	T	C	3: 116,585,802	D232G	probably benign	Het
Zan	T	A	5: 137,463,939	T993S	unknown	Het
Zfp236	G	A	18: 82,680,702	L85F	probably damaging	Het
Zfp352	G	A	4: 90,224,087	D155N	possibly damaging	Het
Zfp867	T	C	11: 59,465,008		probably benign	Het
Zmiz2	T	C	11: 6,399,536	F399L	probably damaging	Het

Other mutations in Scara3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Scara3	APN	14	65933121	missense	probably benign	0.01
IGL00646:Scara3	APN	14	65921156	nonsense	probably null
IGL00718:Scara3	APN	14	65931427	missense	possibly damaging	0.67
IGL01948:Scara3	APN	14	65930812	missense	probably damaging	0.99
IGL01979:Scara3	APN	14	65930963	missense	probably benign	0.01
IGL02399:Scara3	APN	14	65933110	nonsense	probably null
IGL02939:Scara3	APN	14	65931656	missense	probably benign	0.00
IGL02945:Scara3	APN	14	65931211	missense	probably damaging	1.00
IGL03075:Scara3	APN	14	65931154	missense	probably damaging	1.00
IGL03100:Scara3	APN	14	65931273	missense	probably damaging	1.00
IGL03179:Scara3	APN	14	65931154	missense	probably damaging	1.00
condor	UTSW	14	65931202	missense	probably damaging	1.00
PIT4362001:Scara3	UTSW	14	65936402	missense	probably benign
R0062:Scara3	UTSW	14	65930968	missense	probably damaging	1.00
R0062:Scara3	UTSW	14	65930968	missense	probably damaging	1.00
R0124:Scara3	UTSW	14	65931221	missense	probably benign	0.01
R0349:Scara3	UTSW	14	65931781	missense	probably damaging	0.98
R1584:Scara3	UTSW	14	65921104	missense	probably damaging	1.00
R4785:Scara3	UTSW	14	65953501	start codon destroyed	probably null	0.06
R5336:Scara3	UTSW	14	65931038	missense	probably damaging	1.00
R6307:Scara3	UTSW	14	65938261	missense	probably benign	0.24
R6420:Scara3	UTSW	14	65938252	missense	possibly damaging	0.92
R6610:Scara3	UTSW	14	65931221	missense	probably damaging	0.97
R7159:Scara3	UTSW	14	65920780	missense	probably damaging	0.98
R7208:Scara3	UTSW	14	65931266	missense	possibly damaging	0.62
R7246:Scara3	UTSW	14	65931644	missense	probably damaging	0.97
R7315:Scara3	UTSW	14	65931440	missense	probably damaging	1.00
R7324:Scara3	UTSW	14	65931416	missense	probably benign	0.03
R7497:Scara3	UTSW	14	65931202	missense	probably damaging	1.00
R7504:Scara3	UTSW	14	65931331	missense	possibly damaging	0.82
R7554:Scara3	UTSW	14	65920850	missense	possibly damaging	0.69
R8143:Scara3	UTSW	14	65931820	missense	probably damaging	0.96
YA93:Scara3	UTSW	14	65930949	missense	probably damaging	0.98

Posted On

2016-08-02