Mutagenetix > Incidental Mutation

Incidental Mutation 'R8191:Scarf1'

635171

Institutional Source

Beutler Lab

Gene Symbol

Scarf1

Ensembl Gene

ENSMUSG00000038188

Gene Name

scavenger receptor class F, member 1

Synonyms

SREC-I, SREC

MMRRC Submission

067614-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75404366-75417408 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75413065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 437 (M437T)

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: M437T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: M437T

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: M437T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: M437T

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	G	A	16: 3,724,918 (GRCm39)	R49W	probably damaging	Het
Adamts4	T	C	1: 171,080,292 (GRCm39)	S282P		Het
Aqp4	A	G	18: 15,531,222 (GRCm39)	S180P	probably benign	Het
Armc2	T	G	10: 41,839,747 (GRCm39)	E406A	probably benign	Het
Atp13a3	A	T	16: 30,168,598 (GRCm39)	Y464N	probably damaging	Het
B3gnt3	C	A	8: 72,146,122 (GRCm39)	V136L	probably benign	Het
Cacna1s	C	T	1: 136,035,893 (GRCm39)	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,159,933 (GRCm39)	E138D	probably benign	Het
Cenpe	A	G	3: 134,957,375 (GRCm39)	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,616,955 (GRCm39)	I111L	probably damaging	Het
Cfap298	G	T	16: 90,727,889 (GRCm39)	N100K	probably damaging	Het
Copg2	T	C	6: 30,790,665 (GRCm39)	I509V	probably benign	Het
Cux2	T	A	5: 122,012,217 (GRCm39)	D406V	probably benign	Het
Cyp2a12	G	T	7: 26,730,529 (GRCm39)	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,167,250 (GRCm39)	S719A	probably benign	Het
Dnah7c	A	G	1: 46,646,618 (GRCm39)	I1220V	possibly damaging	Het
Dnai3	G	T	3: 145,800,066 (GRCm39)	P158H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dusp10	T	A	1: 183,769,749 (GRCm39)	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,538,253 (GRCm39)	D203E	probably benign	Het
Ecpas	A	T	4: 58,872,587 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,075,283 (GRCm39)	S587P	probably damaging	Het
Ephb2	G	A	4: 136,386,256 (GRCm39)	T832I	probably damaging	Het
Exoc1	T	A	5: 76,707,674 (GRCm39)		probably null	Het
Fam193a	T	A	5: 34,597,917 (GRCm39)	N571K	probably damaging	Het
Fem1a	T	A	17: 56,565,356 (GRCm39)	I483N	probably damaging	Het
Fgf20	C	A	8: 40,761,361 (GRCm39)		probably benign	Het
Fkbp1a	C	T	2: 151,399,356 (GRCm39)	P98S		Het
Gpsm3	A	T	17: 34,809,451 (GRCm39)	D19V	probably benign	Het
Ido2	C	A	8: 25,023,696 (GRCm39)	G381W	probably damaging	Het
Ifi204	T	C	1: 173,579,226 (GRCm39)	T540A	possibly damaging	Het
Isl1	A	T	13: 116,441,954 (GRCm39)	M93K	probably benign	Het
Map3k10	T	A	7: 27,362,671 (GRCm39)	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,141,206 (GRCm39)	V432E	probably damaging	Het
Metap2	A	G	10: 93,701,267 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,421,421 (GRCm39)	S4304G	probably benign	Het
Myef2l	G	T	3: 10,153,914 (GRCm39)	V228F	probably damaging	Het
Nell1	T	C	7: 50,098,622 (GRCm39)	V308A	unknown	Het
Or10g1b	A	G	14: 52,627,987 (GRCm39)	V81A	probably benign	Het
Or4d5	A	T	9: 40,012,767 (GRCm39)	H6Q	probably benign	Het
Plxna4	C	A	6: 32,493,885 (GRCm39)	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,592,382 (GRCm39)	S1224P	probably benign	Het
Ripk4	A	G	16: 97,564,726 (GRCm39)		probably benign	Het
Rnpep	T	C	1: 135,200,172 (GRCm39)	E261G	possibly damaging	Het
Robo1	C	A	16: 72,730,142 (GRCm39)	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,947,611 (GRCm39)	Y99*	probably null	Het
Sh3tc2	G	T	18: 62,106,429 (GRCm39)	D153Y	probably damaging	Het
Siglec1	T	C	2: 130,927,599 (GRCm39)	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,347,895 (GRCm39)	Y262C	probably damaging	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,572,748 (GRCm39)	Y236C	probably damaging	Het
Stac3	T	A	10: 127,344,068 (GRCm39)	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,652,190 (GRCm39)	Q764R	probably damaging	Het
Tcf20	G	A	15: 82,737,606 (GRCm39)	R1282*	probably null	Het
Tlr2	T	A	3: 83,743,821 (GRCm39)	K754M	probably damaging	Het
Tlr2	T	G	3: 83,743,822 (GRCm39)	K754Q	probably damaging	Het
Tnn	C	T	1: 159,953,088 (GRCm39)	V651M	probably damaging	Het
Ttn	T	C	2: 76,701,083 (GRCm39)	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,004,843 (GRCm39)	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,751 (GRCm39)	C1174F		Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Vit	C	T	17: 78,853,828 (GRCm39)	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,565,736 (GRCm39)	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,250,465 (GRCm39)	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,578,530 (GRCm39)	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,703,709 (GRCm39)	C362W	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Xpa	C	A	4: 46,183,225 (GRCm39)	R188L	possibly damaging	Het
Zfp143	C	T	7: 109,676,364 (GRCm39)	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,578,868 (GRCm39)	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,769,838 (GRCm39)	S130R	probably benign	Het
Zswim3	C	A	2: 164,662,128 (GRCm39)	Q203K	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
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
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'- GCACGGAGGAACATTTGGTC -3'
(R):5'- TGCCACAGGTTTGACTCTG -3'

Sequencing Primer
(F):5'- CGGAGGAACATTTGGTCATTTCCAC -3'
(R):5'- GCTCATATCCATGTGACGCAG -3'

Posted On

2020-07-13