Incidental Mutation 'R6409:Sfrp1'
ID 514780
Institutional Source Beutler Lab
Gene Symbol Sfrp1
Ensembl Gene ENSMUSG00000031548
Gene Name secreted frizzled-related protein 1
Synonyms sFRP-1, 2210415K03Rik
MMRRC Submission 044554-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R6409 (G1)
Quality Score 216.009
Status Validated
Chromosome 8
Chromosomal Location 23901518-23939648 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23907394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 198 (I198T)
Ref Sequence ENSEMBL: ENSMUSP00000033952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033952]
AlphaFold Q8C4U3
Predicted Effect possibly damaging
Transcript: ENSMUST00000033952
AA Change: I198T

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033952
Gene: ENSMUSG00000031548
AA Change: I198T

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
FRI 57 171 7.9e-64 SMART
C345C 199 300 9.79e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (32/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are fertile and display increased trabecular bone area, decreased brain weights, slight hematological abnormalities in males, and increased heart weight in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,902,558 (GRCm39) Q556K probably benign Het
Adgrf3 A G 5: 30,402,312 (GRCm39) V572A probably damaging Het
Ahnak G A 19: 8,986,938 (GRCm39) V2741M probably benign Het
Ascc3 T C 10: 50,721,676 (GRCm39) V2043A probably benign Het
B3glct C T 5: 149,658,916 (GRCm39) R239C probably benign Het
Cacna2d4 T A 6: 119,259,189 (GRCm39) V626E probably damaging Het
Cdcp3 G A 7: 130,863,800 (GRCm39) probably benign Het
Cfap54 T C 10: 92,803,354 (GRCm39) N1563D probably benign Het
Duox2 G C 2: 122,115,148 (GRCm39) H1110D probably damaging Het
Inppl1 A T 7: 101,478,168 (GRCm39) F648I probably damaging Het
Mefv C A 16: 3,528,657 (GRCm39) probably null Het
Ms4a4b T C 19: 11,438,724 (GRCm39) probably null Het
Mtus2 T C 5: 148,014,425 (GRCm39) V406A probably benign Het
Nup88 T C 11: 70,835,798 (GRCm39) R554G probably null Het
Or1x2 A G 11: 50,918,015 (GRCm39) Y62C probably damaging Het
Or4d10 C T 19: 12,052,111 (GRCm39) probably benign Het
Or8h8 A T 2: 86,753,515 (GRCm39) Y120* probably null Het
Pde10a A G 17: 9,168,270 (GRCm39) D246G probably damaging Het
Pmm1 T C 15: 81,845,008 (GRCm39) T9A probably benign Het
Pramel19 C T 4: 101,797,874 (GRCm39) Q91* probably null Het
Psg18 T C 7: 18,087,446 (GRCm39) M71V probably benign Het
Rapgef4 A G 2: 72,008,581 (GRCm39) H253R probably benign Het
Rfc4 T C 16: 22,932,823 (GRCm39) *371W probably null Het
Rgs18 T A 1: 144,650,931 (GRCm39) K17* probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sertm1 T C 3: 54,806,788 (GRCm39) Y79C probably benign Het
Slc15a2 T A 16: 36,582,232 (GRCm39) I254F probably benign Het
Slc29a4 A G 5: 142,697,826 (GRCm39) D93G probably damaging Het
Smo T C 6: 29,736,113 (GRCm39) L35S unknown Het
Tbc1d8 A G 1: 39,411,669 (GRCm39) S1056P probably benign Het
Ttll9 A G 2: 152,841,261 (GRCm39) D286G probably damaging Het
Vmn2r14 A G 5: 109,364,096 (GRCm39) Y607H probably benign Het
Vps8 T A 16: 21,297,189 (GRCm39) C564S probably benign Het
Zc3h12d A G 10: 7,743,082 (GRCm39) H284R probably benign Het
Zfp106 A T 2: 120,362,585 (GRCm39) S79T probably damaging Het
Other mutations in Sfrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Sfrp1 APN 8 23,902,354 (GRCm39) splice site probably benign
R3845:Sfrp1 UTSW 8 23,902,264 (GRCm39) missense probably damaging 1.00
R5056:Sfrp1 UTSW 8 23,907,420 (GRCm39) missense probably damaging 0.97
R5468:Sfrp1 UTSW 8 23,936,226 (GRCm39) missense probably benign 0.05
R5835:Sfrp1 UTSW 8 23,936,260 (GRCm39) missense possibly damaging 0.87
R6760:Sfrp1 UTSW 8 23,901,904 (GRCm39) missense probably damaging 1.00
R8118:Sfrp1 UTSW 8 23,902,000 (GRCm39) missense probably damaging 1.00
R8956:Sfrp1 UTSW 8 23,902,159 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGGACCCCTTCACTGTTAC -3'
(R):5'- TGCCTAGACAGACTTCATTTTGC -3'

Sequencing Primer
(F):5'- CTGTTACTCACAAGAAGCCTTTCAGG -3'
(R):5'- CCTAGACAGACTTCATTTTGCCTAAG -3'
Posted On 2018-05-04