Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Scarf1'

510534

Institutional Source

Beutler Lab

Gene Symbol

Scarf1

Ensembl Gene

ENSMUSG00000038188

Gene Name

scavenger receptor class F, member 1

Synonyms

SREC-I, SREC

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75404366-75417408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75411141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 273 (N273K)

Ref Sequence

ENSEMBL: ENSMUSP00000114090 (fasta)

Gene Model

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

AlphaFold

Q5ND28

Predicted Effect

probably benign
Transcript: ENSMUST00000042808
AA Change: N273K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: N273K

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
AA Change: N273K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: N273K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

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
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Cmtm1	A	T	8: 105,031,795 (GRCm39)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,198,516 (GRCm39)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm39)	H133L	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,129,470 (GRCm39)	N1180S	probably benign	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tax1bp1	T	C	6: 52,721,341 (GRCm39)		probably null	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably damaging	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
R4957:Scarf1	UTSW	11	75,416,460 (GRCm39)	missense	probably benign	0.10
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
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'- CCCAGCCTTTCCAGTGTACAAC -3'
(R):5'- TAGAAGTGAAGGTCCTCCGG -3'

Sequencing Primer
(F):5'- CAATGTGGGCCATTCACA -3'
(R):5'- TCCTCCGGGGAAGAACATCTG -3'

Posted On

2018-04-02