Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Scarf1'

381659

Institutional Source

Beutler Lab

Gene Symbol

Scarf1

Ensembl Gene

ENSMUSG00000038188

Gene Name

scavenger receptor class F, member 1

Synonyms

SREC-I, SREC

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75513540-75526582 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75525634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 634 (E634G)

Ref Sequence

ENSEMBL: ENSMUSP00000044248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042808] [ENSMUST00000118243] [ENSMUST00000123819]

AlphaFold

Q5ND28

Predicted Effect

probably benign
Transcript: ENSMUST00000042808
AA Change: E634G

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: E634G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	54	90	2.16e1	SMART
EGF	101	133	1.36e1	SMART
EGF_like	165	193	4.55e1	SMART
EGF_Lam	225	263	8.78e-2	SMART
EGF_like	262	296	4.93e1	SMART
EGF	307	341	2.69e1	SMART
EGF	352	384	2.25e1	SMART
transmembrane domain	424	446	N/A	INTRINSIC
low complexity region	520	535	N/A	INTRINSIC
low complexity region	791	805	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118243

SMART Domains

Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
EGF	54	90	2.16e1	SMART
EGF	101	133	1.36e1	SMART
EGF_like	165	193	4.55e1	SMART
EGF_Lam	225	263	8.78e-2	SMART
EGF_like	262	296	4.93e1	SMART
EGF	307	341	2.69e1	SMART
EGF	352	384	2.25e1	SMART
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209836

Meta Mutation Damage Score

0.0937

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with no abnormalities detected in plasma glucose, cholesterol, or triglycerides, or in the brain, lung, heart, kidney, liver, or testes. Mice homozygous for a targeted allele exhibit impaired clearance of apoptotic cells and autoimmune disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868		probably benign	Het
Cd163l1	T	C	7: 140,228,522	V782A	probably damaging	Het
Cd74	A	G	18: 60,809,037	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,611,196	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428	I310T	probably damaging	Het
Creb5	A	T	6: 53,693,922		probably null	Het
Crebbp	T	C	16: 4,117,367	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892	A407V	probably damaging	Het
Ercc3	G	T	18: 32,243,117	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,268,195	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416		probably benign	Het
Hdac5	C	A	11: 102,205,256		probably benign	Het
Ift22	G	A	5: 136,908,216		probably benign	Het
Ighg3	T	C	12: 113,361,130	E34G	unknown	Het
Itga11	A	T	9: 62,767,648	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489		probably benign	Het
Mnat1	A	G	12: 73,123,878	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135	T34S	possibly damaging	Het
Ncaph	T	C	2: 127,121,257	D352G	possibly damaging	Het
Olfr1014	T	C	2: 85,777,115	F177S	probably damaging	Het
Olfr1036	T	A	2: 86,075,510	Y257N	probably damaging	Het
Olfr1293-ps	C	A	2: 111,528,224	N321K	probably benign	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,775,145	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,195	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080	Q927R	probably damaging	Het
Slc39a14	A	T	14: 70,315,811	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432		probably null	Het
Tdrd3	T	A	14: 87,505,787	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359		probably null	Het
Tnc	G	C	4: 63,976,556	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 145,246,757	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,651,809	E264V	probably damaging	Het
Ttc37	T	G	13: 76,185,113		probably null	Het
Ugt3a2	G	A	15: 9,365,188	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938		probably benign	Het
Zfp39	T	A	11: 58,891,231	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324		probably null	Het

Other mutations in Scarf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Scarf1	APN	11	75521957	missense	probably damaging	0.98
IGL02968:Scarf1	APN	11	75524089	missense	probably damaging	1.00
R0078:Scarf1	UTSW	11	75515162	splice site	probably benign
R0606:Scarf1	UTSW	11	75514348	missense	probably damaging	0.98
R0834:Scarf1	UTSW	11	75514403	nonsense	probably null
R1715:Scarf1	UTSW	11	75524044	missense	probably damaging	1.00
R2327:Scarf1	UTSW	11	75526028	missense	probably damaging	1.00
R2483:Scarf1	UTSW	11	75515291	missense	probably damaging	0.98
R3699:Scarf1	UTSW	11	75514369	missense	probably damaging	1.00
R3831:Scarf1	UTSW	11	75515252	missense	probably damaging	1.00
R3832:Scarf1	UTSW	11	75515252	missense	probably damaging	1.00
R3833:Scarf1	UTSW	11	75515252	missense	probably damaging	1.00
R4990:Scarf1	UTSW	11	75526015	missense	probably benign	0.00
R4992:Scarf1	UTSW	11	75522230	missense	probably damaging	1.00
R4992:Scarf1	UTSW	11	75526015	missense	probably benign	0.00
R5291:Scarf1	UTSW	11	75524074	missense	probably damaging	1.00
R5330:Scarf1	UTSW	11	75515580	missense	probably damaging	1.00
R5331:Scarf1	UTSW	11	75515580	missense	probably damaging	1.00
R5537:Scarf1	UTSW	11	75525531	missense	probably damaging	1.00
R5583:Scarf1	UTSW	11	75514016	missense	possibly damaging	0.95
R5592:Scarf1	UTSW	11	75525687	missense	probably benign	0.08
R6130:Scarf1	UTSW	11	75525739	missense	probably benign
R6289:Scarf1	UTSW	11	75525416	missense	possibly damaging	0.83
R6313:Scarf1	UTSW	11	75520315	missense	probably benign	0.02
R6360:Scarf1	UTSW	11	75515669	missense	probably damaging	1.00
R6944:Scarf1	UTSW	11	75522206	missense	probably benign	0.00
R7113:Scarf1	UTSW	11	75526078	missense	probably damaging	0.99
R7624:Scarf1	UTSW	11	75514416	splice site	probably null
R8191:Scarf1	UTSW	11	75522239	missense	probably benign	0.01
R8258:Scarf1	UTSW	11	75523863	missense	probably damaging	0.97
R8259:Scarf1	UTSW	11	75523863	missense	probably damaging	0.97
R8433:Scarf1	UTSW	11	75521032	critical splice donor site	probably null
R9003:Scarf1	UTSW	11	75515243	missense	possibly damaging	0.46
R9233:Scarf1	UTSW	11	75525894	missense	probably benign
R9292:Scarf1	UTSW	11	75515180	missense	probably damaging	1.00
R9345:Scarf1	UTSW	11	75513575	utr 5 prime	probably benign
Z1088:Scarf1	UTSW	11	75525490	missense	probably damaging	1.00
Z1177:Scarf1	UTSW	11	75515247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGATGCCTCCACACCATTC -3'
(R):5'- TCAGGTTTCTGAGGTGTCCC -3'

Sequencing Primer
(F):5'- ACCATTCCCCATTCCACGTAC -3'
(R):5'- GTGTCCCTGCCAGCATATAGATAG -3'

Posted On

2016-04-27