|Institutional Source||Beutler Lab|
|Gene Name||secreted frizzled-related protein 1|
|Is this an essential gene?||Probably essential (E-score: 0.758)|
|Stock #||R5056 (G1)|
|Chromosomal Location||23411502-23449632 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 23417404 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 207 (F207I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033952 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033952]|
|Predicted Effect||probably damaging
AA Change: F207I
PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: F207I
|Meta Mutation Damage Score||0.7037|
|Coding Region Coverage||
|Validation Efficiency||99% (73/74)|
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||
|Other mutations in Sfrp1||
(F):5'- TCACTGTTACTCACAAGAAGCC -3'
(R):5'- GCTTACTCTGCCTAGACAGAC -3'
(F):5'- CTGTTACTCACAAGAAGCCTTTCAGG -3'
(R):5'- CCTAGACAGACTTCATTTTGCCTAAG -3'