Incidental Mutation 'R4992:Scarf1'
ID 386282
Institutional Source Beutler Lab
Gene Symbol Scarf1
Ensembl Gene ENSMUSG00000038188
Gene Name scavenger receptor class F, member 1
Synonyms SREC-I, SREC
MMRRC Submission 042586-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4992 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75404366-75417408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75413056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 434 (L434P)
Ref Sequence ENSEMBL: ENSMUSP00000114090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042808] [ENSMUST00000118243] [ENSMUST00000123819]
AlphaFold Q5ND28
Predicted Effect probably damaging
Transcript: ENSMUST00000042808
AA Change: L434P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: L434P

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 damaging
Transcript: ENSMUST00000118243
AA Change: L434P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: L434P

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 0.5864 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (84/86)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G A 15: 81,948,203 (GRCm39) R700Q possibly damaging Het
4930444P10Rik T A 1: 16,151,101 (GRCm39) E27V probably damaging Het
Acsm4 T A 7: 119,310,640 (GRCm39) I509N probably benign Het
Asb18 T C 1: 89,880,585 (GRCm39) M143V probably benign Het
Birc6 A G 17: 74,996,251 (GRCm39) D4475G probably benign Het
Bsn A T 9: 107,992,747 (GRCm39) S1002T probably damaging Het
Bub3 T C 7: 131,162,535 (GRCm39) S33P probably damaging Het
Ccna1 T A 3: 54,957,311 (GRCm39) R35S probably damaging Het
Cdc23 T A 18: 34,779,972 (GRCm39) M119L probably benign Het
Ces1a A G 8: 93,771,650 (GRCm39) V49A probably benign Het
Chi3l1 A T 1: 134,116,364 (GRCm39) E282D probably benign Het
Crocc G A 4: 140,773,977 (GRCm39) A220V probably damaging Het
Cstf1 A G 2: 172,219,720 (GRCm39) Y277C probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dennd5a A G 7: 109,493,919 (GRCm39) S1262P probably damaging Het
Dnajb5 G A 4: 42,953,386 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,357,064 (GRCm39) K200R unknown Het
Ect2l A G 10: 18,048,477 (GRCm39) F156S probably benign Het
Egf T C 3: 129,505,179 (GRCm39) probably null Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Elmo3 T A 8: 106,036,133 (GRCm39) Y607* probably null Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Ephb2 A G 4: 136,388,150 (GRCm39) V651A probably damaging Het
Fbp1 C T 13: 63,012,888 (GRCm39) V102I probably benign Het
Gcn1 T C 5: 115,737,225 (GRCm39) V1321A probably benign Het
Gimd1 A T 3: 132,340,718 (GRCm39) Y78F probably benign Het
Glmn T G 5: 107,705,167 (GRCm39) D483A probably damaging Het
Gsr C T 8: 34,183,941 (GRCm39) T401I probably damaging Het
Htr3b G A 9: 48,870,518 (GRCm39) H62Y possibly damaging Het
Ifna6 T C 4: 88,745,777 (GRCm39) V42A probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Inpp4b A T 8: 82,759,837 (GRCm39) R627S probably damaging Het
Kif13a C T 13: 46,930,639 (GRCm39) V142M probably damaging Het
Lims1 A C 10: 58,246,063 (GRCm39) probably benign Het
Ltn1 T C 16: 87,202,475 (GRCm39) T1059A possibly damaging Het
Lyst T C 13: 13,835,748 (GRCm39) L1810P probably damaging Het
Mboat1 T G 13: 30,386,343 (GRCm39) I119R possibly damaging Het
Mgat3 T A 15: 80,096,743 (GRCm39) D523E probably benign Het
Mphosph9 T C 5: 124,442,253 (GRCm39) E395G probably damaging Het
Mtcl1 G T 17: 66,649,834 (GRCm39) P1877Q probably damaging Het
Myo6 T C 9: 80,190,792 (GRCm39) V781A possibly damaging Het
Ncoa3 T A 2: 165,911,859 (GRCm39) M1395K probably benign Het
Nhlrc2 T A 19: 56,558,966 (GRCm39) D150E probably benign Het
Nlrp9a T C 7: 26,256,811 (GRCm39) V54A probably benign Het
Or1e32 G A 11: 73,705,146 (GRCm39) T254I probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Parp14 A T 16: 35,661,512 (GRCm39) C1479S probably benign Het
Pdcd1lg2 T C 19: 29,423,484 (GRCm39) V176A probably damaging Het
Pibf1 T A 14: 99,388,103 (GRCm39) N416K probably damaging Het
Pip4p1 A G 14: 51,166,690 (GRCm39) V179A probably damaging Het
Polb A T 8: 23,135,087 (GRCm39) V115E probably damaging Het
Polq T A 16: 36,881,524 (GRCm39) N1229K possibly damaging Het
Ppp1r21 A T 17: 88,876,508 (GRCm39) D440V probably benign Het
Ppp2ca T A 11: 52,004,033 (GRCm39) H63Q possibly damaging Het
Prl7a1 C T 13: 27,819,669 (GRCm39) probably null Het
Rgs1 C A 1: 144,122,060 (GRCm39) K77N probably damaging Het
Rnf112 T A 11: 61,343,537 (GRCm39) I100F possibly damaging Het
Rnf139 G T 15: 58,770,325 (GRCm39) E117* probably null Het
Robo1 G A 16: 72,776,756 (GRCm39) V743I probably damaging Het
Sgsm1 A T 5: 113,430,486 (GRCm39) S300T possibly damaging Het
Slc26a7 T G 4: 14,565,508 (GRCm39) T192P probably damaging Het
Smarcc2 A G 10: 128,310,579 (GRCm39) K403E probably damaging Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Sptlc3 G A 2: 139,437,923 (GRCm39) V406I probably benign Het
Tgds A C 14: 118,355,175 (GRCm39) Y197D probably damaging Het
Tll1 G T 8: 64,546,978 (GRCm39) R323S probably damaging Het
Trim14 A G 4: 46,507,110 (GRCm39) Y369H probably damaging Het
Ube2nl C T 7: 61,199,112 (GRCm39) noncoding transcript Het
Ube3a T A 7: 58,934,568 (GRCm39) D560E possibly damaging Het
Vmn2r10 A G 5: 109,145,592 (GRCm39) V505A possibly damaging Het
Vmn2r114 T G 17: 23,510,765 (GRCm39) I572L probably benign Het
Vmn2r26 A T 6: 124,003,070 (GRCm39) Q160L probably benign Het
Vmn2r75 A C 7: 85,815,375 (GRCm39) probably null Het
Vps8 A G 16: 21,280,158 (GRCm39) K336E possibly damaging Het
Zfp324 T C 7: 12,703,300 (GRCm39) S32P probably benign Het
Zfp366 T C 13: 99,366,003 (GRCm39) I388T possibly damaging Het
Zfp68 A T 5: 138,605,599 (GRCm39) N203K possibly damaging Het
Zhx2 A T 15: 57,686,983 (GRCm39) N784I probably 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
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
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'- TGCTCTATGCCCTGCCAATG -3'
(R):5'- AAGACATGCAGTTCCAGGC -3'

Sequencing Primer
(F):5'- ACCTGCCAGCTGGGTAAGTG -3'
(R):5'- AGACATGCAGTTCCAGGCTTTAG -3'
Posted On 2016-05-10