Mutagenetix > Incidental Mutations

Incidental Mutation 'R1715:Scarf1'

190951

Institutional Source

Beutler Lab

Gene Symbol

Scarf1

Ensembl Gene

ENSMUSG00000038188

Gene Name

scavenger receptor class F, member 1

Synonyms

SREC-I, SREC

MMRRC Submission

039748-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1715 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

75513540-75526582 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75524044 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 515 (S515P)

Ref Sequence

ENSEMBL: ENSMUSP00000044248 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042808
AA Change: S515P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: S515P

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Crispld2	G	T	8: 120,023,649	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Olfr830	A	T	9: 18,875,794	I156F	probably benign	Het
Pcyt2	T	A	11: 120,615,851		probably null	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Synm	T	C	7: 67,736,303	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	probably damaging	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
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
R4957:Scarf1	UTSW	11	75525634	missense	probably benign	0.10
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
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'- ACCTGAAACATCCTGCCAGTCTGAC -3'
(R):5'- AATAAGCGCGGACAGACATCTGCC -3'

Sequencing Primer
(F):5'- CCTTTTTCAGAATGAAGCAGCAGG -3'
(R):5'- ggacagacatctgccaaagg -3'

Posted On

2014-05-14