Incidental Mutation 'R6300:Sfrp4'
ID 509060
Institutional Source Beutler Lab
Gene Symbol Sfrp4
Ensembl Gene ENSMUSG00000021319
Gene Name secreted frizzled-related protein 4
Synonyms
MMRRC Submission 044409-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R6300 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 19807345-19816995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19808023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 141 (A141T)
Ref Sequence ENSEMBL: ENSMUSP00000152498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002883] [ENSMUST00000002885] [ENSMUST00000220944] [ENSMUST00000221014] [ENSMUST00000222464] [ENSMUST00000222992]
AlphaFold Q9Z1N6
Predicted Effect probably damaging
Transcript: ENSMUST00000002883
AA Change: A141T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002883
Gene: ENSMUSG00000021319
AA Change: A141T

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 unknown
Transcript: ENSMUST00000221810
AA Change: A14T
Predicted Effect probably damaging
Transcript: ENSMUST00000222464
AA Change: A141T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222992
Meta Mutation Damage Score 0.4979 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably damaging Het
Other mutations in Sfrp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Sfrp4 APN 13 19,807,800 (GRCm39) missense possibly damaging 0.83
IGL03139:Sfrp4 APN 13 19,807,728 (GRCm39) missense probably damaging 0.98
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
R8544:Sfrp4 UTSW 13 19,816,336 (GRCm39) splice site probably null
R9478:Sfrp4 UTSW 13 19,807,610 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTAGTGGACGTGAACTGCAG -3'
(R):5'- TGAGAGATAAACTTCTGGGCC -3'

Sequencing Primer
(F):5'- ACGTGAACTGCAGCTCTGTG -3'
(R):5'- GAGATAAACTTCTGGGCCCTTCAC -3'
Posted On 2018-04-02