Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Scarf1'

640455

Institutional Source

Beutler Lab

Gene Symbol

Scarf1

Ensembl Gene

ENSMUSG00000038188

Gene Name

scavenger receptor class F, member 1

Synonyms

SREC-I, SREC

MMRRC Submission

067650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8259 (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 75414689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 486 (S486T)

Ref Sequence

ENSEMBL: ENSMUSP00000044248 (fasta)

Gene Model

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

AlphaFold

Q5ND28

Predicted Effect

probably damaging
Transcript: ENSMUST00000042808
AA Change: S486T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: S486T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Abcg5	T	G	17: 84,983,523 (GRCm39)	T144P	possibly damaging	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
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
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'- CCTGAAACATCCTGCCAGTC -3'
(R):5'- AAGTAGGCATGAGCTTCGTCC -3'

Sequencing Primer
(F):5'- CAGTCTGACATGGATTCCCTTAGG -3'
(R):5'- TCTTCTCCAGAGTCAGGATCAGAAG -3'

Posted On

2020-07-28