Incidental Mutation 'R7113:Scarf1'
ID 551638
Institutional Source Beutler Lab
Gene Symbol Scarf1
Ensembl Gene ENSMUSG00000038188
Gene Name scavenger receptor class F, member 1
Synonyms SREC-I, SREC
MMRRC Submission 045205-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7113 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75404366-75417408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75416904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 782 (E782G)
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: E782G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: E782G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0826 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (53/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,449,267 (GRCm39) S226P probably benign Het
Adarb2 T C 13: 8,781,881 (GRCm39) Y586H probably damaging Het
Ano7 A T 1: 93,313,342 (GRCm39) E160V probably benign Het
Apob G C 12: 8,045,539 (GRCm39) A895P probably damaging Het
Ccdc157 T C 11: 4,098,889 (GRCm39) T206A possibly damaging Het
Ceacam18 A G 7: 43,291,400 (GRCm39) N281D probably benign Het
Chil4 T C 3: 106,110,083 (GRCm39) D337G probably damaging Het
Chil4 T G 3: 106,121,664 (GRCm39) K62Q probably benign Het
Cic A T 7: 24,972,869 (GRCm39) I867F probably benign Het
Cntln A G 4: 84,968,064 (GRCm39) E761G probably damaging Het
Cyp2d26 T A 15: 82,674,403 (GRCm39) Y493F probably benign Het
Dync2h1 A T 9: 7,075,788 (GRCm39) F3026L probably benign Het
Ehd3 T A 17: 74,137,179 (GRCm39) D449E probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Herc2 T G 7: 55,853,597 (GRCm39) D3696E probably damaging Het
Hivep3 T A 4: 119,955,566 (GRCm39) I1294N probably damaging Het
Il19 T C 1: 130,862,732 (GRCm39) I139V probably benign Het
Jmjd1c T A 10: 66,993,780 (GRCm39) I87N probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Kcnv2 T C 19: 27,301,448 (GRCm39) L433P probably damaging Het
Kif9 A T 9: 110,335,732 (GRCm39) N378Y probably damaging Het
Lonrf1 A T 8: 36,697,664 (GRCm39) V440E probably benign Het
Lrrc37 A G 11: 103,509,625 (GRCm39) I781T unknown Het
Manea A T 4: 26,336,718 (GRCm39) L186Q probably damaging Het
Mas1 A G 17: 13,061,324 (GRCm39) I33T probably benign Het
Med13l A G 5: 118,864,330 (GRCm39) S389G probably benign Het
Nxph3 T C 11: 95,401,892 (GRCm39) N174S possibly damaging Het
Or1l4 T A 2: 37,091,568 (GRCm39) F105Y possibly damaging Het
Or8g52 G C 9: 39,630,973 (GRCm39) C150S probably benign Het
Pcdha5 A G 18: 37,094,757 (GRCm39) D422G probably benign Het
Pias4 A C 10: 80,990,287 (GRCm39) V416G possibly damaging Het
Pik3cg T A 12: 32,255,666 (GRCm39) Y107F probably damaging Het
Plcg1 T A 2: 160,590,203 (GRCm39) W156R possibly damaging Het
Plcl2 A G 17: 50,913,492 (GRCm39) D167G probably damaging Het
Podxl T A 6: 31,501,668 (GRCm39) probably null Het
Ppp1r2 T C 16: 31,073,536 (GRCm39) D197G probably benign Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Rad17 A T 13: 100,766,025 (GRCm39) S368T probably benign Het
Rdh8 G T 9: 20,736,623 (GRCm39) R230L probably benign Het
Rpl35 A C 2: 38,894,168 (GRCm39) L58R probably damaging Het
Rtp3 A C 9: 110,815,767 (GRCm39) C199W probably damaging Het
S100pbp G A 4: 129,075,896 (GRCm39) T143I probably damaging Het
Slc30a9 T C 5: 67,484,205 (GRCm39) V114A probably benign Het
Speer1c G A 5: 10,292,977 (GRCm39) P189S Het
Stpg2 G A 3: 139,407,535 (GRCm39) probably null Het
Tdpoz1 T C 3: 93,578,113 (GRCm39) S224G possibly damaging Het
Triml2 T A 8: 43,636,370 (GRCm39) Y52N probably benign Het
Trpm2 A T 10: 77,783,765 (GRCm39) I236N probably damaging Het
Unc5c A G 3: 141,507,054 (GRCm39) D602G probably benign Het
Upk1a A G 7: 30,309,236 (GRCm39) S29P probably damaging Het
Vmn2r54 A G 7: 12,350,001 (GRCm39) L527P probably damaging Het
Vmn2r72 A T 7: 85,399,011 (GRCm39) probably null Het
Vstm2l G T 2: 157,756,649 (GRCm39) probably benign Het
Vwf G T 6: 125,632,007 (GRCm39) G1952V Het
Zfand6 A C 7: 84,265,077 (GRCm39) I208S probably damaging Het
Zfp236 A G 18: 82,638,462 (GRCm39) I1386T possibly damaging Het
Other mutations in Scarf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CGTCGTTTGGGAAACTACCAG -3'
(R):5'- TCCACAGCAGCTTCAGCATC -3'

Sequencing Primer
(F):5'- TGGATCCCAAAGTAAAGAGTGCTATC -3'
(R):5'- GCATCCCGCTCTCCCTG -3'
Posted On 2019-05-15