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

75404366-75417408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75416460 bp (GRCm39)

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: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
6820408C15Rik	T	A	2: 152,286,013 (GRCm39)	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,231,786 (GRCm39)	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,448,303 (GRCm39)	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,404,027 (GRCm39)		probably benign	Het
Cd74	A	G	18: 60,942,109 (GRCm39)	N113D	probably benign	Het
Cdc25b	T	C	2: 131,035,525 (GRCm39)	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,759,315 (GRCm39)	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,760,547 (GRCm39)	I310T	probably damaging	Het
Creb5	A	T	6: 53,670,907 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,935,231 (GRCm39)	Q460R	probably benign	Het
Dnah17	A	T	11: 117,965,124 (GRCm39)	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,289,120 (GRCm39)	H215L	probably damaging	Het
Enkd1	A	G	8: 106,431,121 (GRCm39)	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892 (GRCm39)	A407V	probably damaging	Het
Ercc3	G	T	18: 32,376,170 (GRCm39)	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,994,827 (GRCm39)	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099 (GRCm39)	N339K	probably damaging	Het
Frrs1	G	A	3: 116,678,897 (GRCm39)	D240N	probably benign	Het
Gemin2	A	G	12: 59,063,954 (GRCm39)	S105G	probably benign	Het
Glra1	T	A	11: 55,418,224 (GRCm39)	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,687,503 (GRCm39)	P354S	probably damaging	Het
Gpr15	G	T	16: 58,538,537 (GRCm39)	A184E	probably damaging	Het
Grm7	G	A	6: 111,335,824 (GRCm39)	G745E	probably damaging	Het
H2-T10	T	A	17: 36,428,308 (GRCm39)		probably benign	Het
Hdac5	C	A	11: 102,096,082 (GRCm39)		probably benign	Het
Ift22	G	A	5: 136,937,070 (GRCm39)		probably benign	Het
Ighg3	T	C	12: 113,324,750 (GRCm39)	E34G	unknown	Het
Itga11	A	T	9: 62,674,930 (GRCm39)	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,871 (GRCm39)	V282A	possibly damaging	Het
Maml2	A	G	9: 13,531,572 (GRCm39)	K262R	probably damaging	Het
Mme	T	A	3: 63,250,910 (GRCm39)		probably benign	Het
Mnat1	A	G	12: 73,170,652 (GRCm39)	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,281 (GRCm39)	T34S	possibly damaging	Het
Ncaph	T	C	2: 126,963,177 (GRCm39)	D352G	possibly damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4f17-ps1	C	A	2: 111,358,569 (GRCm39)	N321K	probably benign	Het
Or5m9b	T	A	2: 85,905,854 (GRCm39)	Y257N	probably damaging	Het
Or9g8	T	C	2: 85,607,459 (GRCm39)	F177S	probably damaging	Het
Pcdhb13	T	A	18: 37,577,837 (GRCm39)	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,763,577 (GRCm39)	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,281 (GRCm39)	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,583,469 (GRCm39)	T772I	probably benign	Het
Ryr2	T	C	13: 11,799,966 (GRCm39)	Q927R	probably damaging	Het
Scart1	T	C	7: 139,808,435 (GRCm39)	V782A	probably damaging	Het
Skic3	T	G	13: 76,333,232 (GRCm39)		probably null	Het
Slc39a14	A	T	14: 70,553,260 (GRCm39)	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,365,194 (GRCm39)	T176S	probably benign	Het
Srsf10	T	C	4: 135,583,541 (GRCm39)	S2P	probably damaging	Het
Tcam1	T	A	11: 106,173,705 (GRCm39)	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,919,864 (GRCm39)		probably null	Het
Tdrd3	T	A	14: 87,743,223 (GRCm39)	H390Q	probably benign	Het
Tlk2	T	C	11: 105,144,185 (GRCm39)		probably null	Het
Tnc	G	C	4: 63,894,793 (GRCm39)	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 144,973,327 (GRCm39)	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 144,973,328 (GRCm39)	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,889,266 (GRCm39)	E264V	probably damaging	Het
Ugt3a1	G	A	15: 9,365,274 (GRCm39)	V296I	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,947,129 (GRCm39)	E541A	probably benign	Het
Ybx1	A	T	4: 119,136,135 (GRCm39)		probably benign	Het
Zfp39	T	A	11: 58,782,057 (GRCm39)	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,603,904 (GRCm39)	K32*	probably null	Het
Zpbp2	T	A	11: 98,442,150 (GRCm39)		probably null	Het

Other mutations in Scarf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Scarf1	APN	11	75,412,783 (GRCm39)	missense	probably damaging	0.98
IGL02968:Scarf1	APN	11	75,414,915 (GRCm39)	missense	probably damaging	1.00
R0078:Scarf1	UTSW	11	75,405,988 (GRCm39)	splice site	probably benign
R0606:Scarf1	UTSW	11	75,405,174 (GRCm39)	missense	probably damaging	0.98
R0834:Scarf1	UTSW	11	75,405,229 (GRCm39)	nonsense	probably null
R1715:Scarf1	UTSW	11	75,414,870 (GRCm39)	missense	probably damaging	1.00
R2327:Scarf1	UTSW	11	75,416,854 (GRCm39)	missense	probably damaging	1.00
R2483:Scarf1	UTSW	11	75,406,117 (GRCm39)	missense	probably damaging	0.98
R3699:Scarf1	UTSW	11	75,405,195 (GRCm39)	missense	probably damaging	1.00
R3831:Scarf1	UTSW	11	75,406,078 (GRCm39)	missense	probably damaging	1.00
R3832:Scarf1	UTSW	11	75,406,078 (GRCm39)	missense	probably damaging	1.00
R3833:Scarf1	UTSW	11	75,406,078 (GRCm39)	missense	probably damaging	1.00
R4990:Scarf1	UTSW	11	75,416,841 (GRCm39)	missense	probably benign	0.00
R4992:Scarf1	UTSW	11	75,416,841 (GRCm39)	missense	probably benign	0.00
R4992:Scarf1	UTSW	11	75,413,056 (GRCm39)	missense	probably damaging	1.00
R5291:Scarf1	UTSW	11	75,414,900 (GRCm39)	missense	probably damaging	1.00
R5330:Scarf1	UTSW	11	75,406,406 (GRCm39)	missense	probably damaging	1.00
R5331:Scarf1	UTSW	11	75,406,406 (GRCm39)	missense	probably damaging	1.00
R5537:Scarf1	UTSW	11	75,416,357 (GRCm39)	missense	probably damaging	1.00
R5583:Scarf1	UTSW	11	75,404,842 (GRCm39)	missense	possibly damaging	0.95
R5592:Scarf1	UTSW	11	75,416,513 (GRCm39)	missense	probably benign	0.08
R6130:Scarf1	UTSW	11	75,416,565 (GRCm39)	missense	probably benign
R6289:Scarf1	UTSW	11	75,416,242 (GRCm39)	missense	possibly damaging	0.83
R6313:Scarf1	UTSW	11	75,411,141 (GRCm39)	missense	probably benign	0.02
R6360:Scarf1	UTSW	11	75,406,495 (GRCm39)	missense	probably damaging	1.00
R6944:Scarf1	UTSW	11	75,413,032 (GRCm39)	missense	probably benign	0.00
R7113:Scarf1	UTSW	11	75,416,904 (GRCm39)	missense	probably damaging	0.99
R7624:Scarf1	UTSW	11	75,405,242 (GRCm39)	splice site	probably null
R8191:Scarf1	UTSW	11	75,413,065 (GRCm39)	missense	probably benign	0.01
R8258:Scarf1	UTSW	11	75,414,689 (GRCm39)	missense	probably damaging	0.97
R8259:Scarf1	UTSW	11	75,414,689 (GRCm39)	missense	probably damaging	0.97
R8433:Scarf1	UTSW	11	75,411,858 (GRCm39)	critical splice donor site	probably null
R9003:Scarf1	UTSW	11	75,406,069 (GRCm39)	missense	possibly damaging	0.46
R9233:Scarf1	UTSW	11	75,416,720 (GRCm39)	missense	probably benign
R9292:Scarf1	UTSW	11	75,406,006 (GRCm39)	missense	probably damaging	1.00
R9345:Scarf1	UTSW	11	75,404,401 (GRCm39)	utr 5 prime	probably benign
Z1088:Scarf1	UTSW	11	75,416,316 (GRCm39)	missense	probably damaging	1.00
Z1177:Scarf1	UTSW	11	75,406,073 (GRCm39)	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