Incidental Mutation 'IGL03139:Sfrp4'
ID 410625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sfrp4
Ensembl Gene ENSMUSG00000021319
Gene Name secreted frizzled-related protein 4
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL03139
Quality Score
Status
Chromosome 13
Chromosomal Location 19807345-19816995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19807728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 42 (M42I)
Ref Sequence ENSEMBL: ENSMUSP00000152498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002883] [ENSMUST00000002885] [ENSMUST00000220944] [ENSMUST00000221014] [ENSMUST00000222464] [ENSMUST00000222992]
AlphaFold Q9Z1N6
Predicted Effect possibly damaging
Transcript: ENSMUST00000002883
AA Change: M42I

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002883
Gene: ENSMUSG00000021319
AA Change: M42I

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FRI 23 141 1.8e-60 SMART
C345C 187 290 2.7e-27 SMART
low complexity region 306 314 N/A INTRINSIC
low complexity region 316 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002885
SMART Domains Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Ependymin 87 210 1e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220755
Predicted Effect probably benign
Transcript: ENSMUST00000220944
Predicted Effect probably benign
Transcript: ENSMUST00000221014
Predicted Effect probably benign
Transcript: ENSMUST00000221810
Predicted Effect probably damaging
Transcript: ENSMUST00000222464
AA Change: M42I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000222992
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight reduction in female fertility, normal body size, and normal serum phosphate and calcium levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,391,067 (GRCm39) F97L probably benign Het
Acad10 T C 5: 121,764,145 (GRCm39) Y928C probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Atxn7 T C 14: 14,052,994 (GRCm38) V144A probably damaging Het
Baiap2l2 T A 15: 79,155,753 (GRCm39) N107I probably damaging Het
Cd180 A G 13: 102,842,924 (GRCm39) K657E probably damaging Het
Cep192 T C 18: 67,961,547 (GRCm39) probably null Het
Cma2 A G 14: 56,211,256 (GRCm39) I183V probably damaging Het
Col18a1 C A 10: 76,949,177 (GRCm39) A112S possibly damaging Het
Ctu2 A G 8: 123,205,446 (GRCm39) D100G possibly damaging Het
Defb29 T C 2: 152,380,812 (GRCm39) K66E probably damaging Het
Dis3l T A 9: 64,219,232 (GRCm39) D566V probably damaging Het
Dtx1 C A 5: 120,832,955 (GRCm39) R161L probably damaging Het
Efcab6 T A 15: 83,836,422 (GRCm39) L436F probably benign Het
Fip1l1 A G 5: 74,731,776 (GRCm39) I254V possibly damaging Het
Gid8 C A 2: 180,356,501 (GRCm39) A46E probably damaging Het
Grm8 G T 6: 27,618,649 (GRCm39) Q398K probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c T C 18: 60,379,221 (GRCm39) V252A probably benign Het
Kcnt1 T C 2: 25,784,480 (GRCm39) probably benign Het
Lrrc8a T C 2: 30,145,683 (GRCm39) S166P probably damaging Het
Map2k6 A T 11: 110,387,299 (GRCm39) probably benign Het
Mmab A G 5: 114,571,405 (GRCm39) L157P probably damaging Het
Mmrn1 A T 6: 60,953,324 (GRCm39) E535V probably damaging Het
Mup4 T C 4: 59,958,482 (GRCm39) probably benign Het
Nup210 A G 6: 90,997,221 (GRCm39) S820P probably benign Het
Or52b4 A G 7: 102,184,517 (GRCm39) K188E possibly damaging Het
Pik3cg T C 12: 32,242,222 (GRCm39) I963V probably damaging Het
Plcg1 T C 2: 160,590,049 (GRCm39) probably null Het
Plscr1 T C 9: 92,148,438 (GRCm39) probably benign Het
Prss36 C T 7: 127,532,783 (GRCm39) G202E probably damaging Het
Psen2 A T 1: 180,068,350 (GRCm39) V101E probably damaging Het
Saxo1 T C 4: 86,405,999 (GRCm39) M67V possibly damaging Het
Strn3 C A 12: 51,699,633 (GRCm39) probably benign Het
Tgfb1i1 C A 7: 127,848,476 (GRCm39) P197Q possibly damaging Het
Thsd4 A G 9: 59,904,456 (GRCm39) V580A probably benign Het
Tjp1 C A 7: 64,990,182 (GRCm39) probably benign Het
Tprn C T 2: 25,154,066 (GRCm39) A456V probably benign Het
Ttc34 T C 4: 154,945,727 (GRCm39) Y763H probably benign Het
Ttn T C 2: 76,601,507 (GRCm39) T18686A probably benign Het
Uggt2 T A 14: 119,332,722 (GRCm39) T71S probably benign Het
Vmn2r120 T A 17: 57,831,742 (GRCm39) Y349F probably benign Het
Zbtb41 A G 1: 139,351,576 (GRCm39) T230A probably benign Het
Other mutations in Sfrp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Sfrp4 APN 13 19,807,800 (GRCm39) missense possibly damaging 0.83
IGL03174:Sfrp4 APN 13 19,816,377 (GRCm39) missense probably benign
P0043:Sfrp4 UTSW 13 19,807,765 (GRCm39) missense probably benign 0.00
PIT4366001:Sfrp4 UTSW 13 19,814,414 (GRCm39) missense unknown
R2021:Sfrp4 UTSW 13 19,816,496 (GRCm39) missense probably benign 0.45
R4548:Sfrp4 UTSW 13 19,807,936 (GRCm39) missense possibly damaging 0.88
R5723:Sfrp4 UTSW 13 19,807,868 (GRCm39) missense probably damaging 1.00
R6279:Sfrp4 UTSW 13 19,808,023 (GRCm39) missense probably damaging 1.00
R6300:Sfrp4 UTSW 13 19,808,023 (GRCm39) missense probably damaging 1.00
R8544:Sfrp4 UTSW 13 19,816,336 (GRCm39) splice site probably null
R9478:Sfrp4 UTSW 13 19,807,610 (GRCm39) missense unknown
Posted On 2016-08-02