Incidental Mutation 'R9003:Scarf1'
ID 685104
Institutional Source Beutler Lab
Gene Symbol Scarf1
Ensembl Gene ENSMUSG00000038188
Gene Name scavenger receptor class F, member 1
Synonyms SREC-I, SREC
MMRRC Submission 068833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9003 (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 T at 75406069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 118 (T118S)
Ref Sequence ENSEMBL: ENSMUSP00000044248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042808] [ENSMUST00000042972] [ENSMUST00000118243] [ENSMUST00000123819]
AlphaFold Q5ND28
Predicted Effect possibly damaging
Transcript: ENSMUST00000042808
AA Change: T118S

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
AA Change: T118S

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: ENSMUST00000042972
SMART Domains Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
Pfam:Jnk-SapK_ap_N 27 195 2.1e-16 PFAM
Pfam:RILP 223 281 1.1e-21 PFAM
low complexity region 289 298 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118243
AA Change: T118S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
AA Change: T118S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (57/57)
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,850,013 (GRCm39) H917Y possibly damaging Het
Acot4 A G 12: 84,089,969 (GRCm39) K222R possibly damaging Het
Akap12 A G 10: 4,306,744 (GRCm39) S1290G probably benign Het
Arid1a T C 4: 133,411,799 (GRCm39) I1311V unknown Het
Asf1b G T 8: 84,682,530 (GRCm39) E25* probably null Het
Atp10a T A 7: 58,457,203 (GRCm39) W901R probably damaging Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Carmil2 A G 8: 106,423,905 (GRCm39) T1253A probably damaging Het
Ccdc146 T C 5: 21,508,132 (GRCm39) T639A possibly damaging Het
Cdca4 A G 12: 112,785,659 (GRCm39) V23A probably benign Het
Chpt1 A G 10: 88,312,943 (GRCm39) F290L probably damaging Het
Clca3b C T 3: 144,533,072 (GRCm39) W653* probably null Het
Coa8 A G 12: 111,688,189 (GRCm39) *45W probably null Het
Cpb2 A T 14: 75,479,868 (GRCm39) probably benign Het
Cul9 A G 17: 46,836,001 (GRCm39) V1215A possibly damaging Het
Cxxc4 A T 3: 133,945,431 (GRCm39) N4I unknown Het
Eps8l1 G T 7: 4,464,016 (GRCm39) V47F possibly damaging Het
Exoc6 T C 19: 37,587,097 (GRCm39) I537T probably damaging Het
Fbn2 T C 18: 58,176,591 (GRCm39) Y2040C probably damaging Het
Gfm2 T G 13: 97,282,889 (GRCm39) probably benign Het
Jak2 A T 19: 29,254,240 (GRCm39) M187L probably benign Het
Kif5b A G 18: 6,224,047 (GRCm39) V247A probably benign Het
Klhl22 T C 16: 17,589,612 (GRCm39) V91A probably damaging Het
Ldhd T C 8: 112,356,894 (GRCm39) S17G probably benign Het
Madd C A 2: 90,988,359 (GRCm39) E1223* probably null Het
Mecom T C 3: 30,034,639 (GRCm39) I346V probably benign Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Nek4 C T 14: 30,704,471 (GRCm39) T662M probably benign Het
Or10g3b T A 14: 52,586,768 (GRCm39) H245L probably damaging Het
Or2y1b C T 11: 49,209,155 (GRCm39) P261S possibly damaging Het
Or4c117 T A 2: 88,956,024 (GRCm39) Q17L possibly damaging Het
Or4k42 A G 2: 111,320,411 (GRCm39) F31L probably benign Het
Or5ac19 A T 16: 59,089,263 (GRCm39) F256I probably benign Het
Or8c18 C T 9: 38,203,343 (GRCm39) T34I probably benign Het
Phc3 G A 3: 31,020,007 (GRCm39) T19I possibly damaging Het
Pla2g4e T A 2: 120,007,282 (GRCm39) Q472L probably benign Het
Plcg2 C T 8: 118,342,002 (GRCm39) T1121I Het
Plin2 T C 4: 86,580,324 (GRCm39) T146A probably benign Het
Pum1 T G 4: 130,474,393 (GRCm39) S488A probably benign Het
Robo1 A G 16: 72,539,002 (GRCm39) probably benign Het
Rsbn1 T C 3: 103,822,188 (GRCm39) L102P probably damaging Het
Sbno2 A T 10: 79,896,049 (GRCm39) V939E probably damaging Het
Sdcbp2 G A 2: 151,429,113 (GRCm39) V171M probably benign Het
Sh3pxd2b T C 11: 32,361,571 (GRCm39) I261T probably damaging Het
Slc4a9 A G 18: 36,673,787 (GRCm39) probably null Het
Smpdl3a A G 10: 57,683,977 (GRCm39) Y245C probably damaging Het
Stk39 T C 2: 68,222,462 (GRCm39) I201V probably damaging Het
Timm44 A G 8: 4,324,204 (GRCm39) L25P possibly damaging Het
Tinf2 T C 14: 55,917,859 (GRCm39) H210R probably benign Het
Tmem168 A T 6: 13,591,446 (GRCm39) Y457N probably benign Het
Topbp1 T C 9: 103,200,727 (GRCm39) S587P probably benign Het
Tpp1 T A 7: 105,398,156 (GRCm39) I336F probably benign Het
Ttc28 G A 5: 111,424,896 (GRCm39) V1574I probably benign Het
Tut4 A G 4: 108,400,029 (GRCm39) K1277E probably damaging Het
Vmn2r52 A T 7: 9,905,181 (GRCm39) D219E probably benign Het
Zbtb40 G T 4: 136,745,904 (GRCm39) A43E probably damaging Het
Zfp970 G A 2: 177,167,010 (GRCm39) A195T 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
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
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
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'- CAGATGTTCTCAGGGTCTGTCC -3'
(R):5'- ATACACAGGTTCCAGTGGCC -3'

Sequencing Primer
(F):5'- CAGGGTCTGTCCTTGGCTC -3'
(R):5'- CTGGTCACAGCGTGAGG -3'
Posted On 2021-10-11