Incidental Mutation 'R4184:Stc1'
ID 319884
Institutional Source Beutler Lab
Gene Symbol Stc1
Ensembl Gene ENSMUSG00000014813
Gene Name stanniocalcin 1
Synonyms
MMRRC Submission 041020-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R4184 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 69266738-69278850 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 69266834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000014957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014957]
AlphaFold O55183
Predicted Effect probably benign
Transcript: ENSMUST00000014957
SMART Domains Protein: ENSMUSP00000014957
Gene: ENSMUSG00000014813

DomainStartEndE-ValueType
Pfam:Stanniocalcin 6 206 1.6e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224911
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 95% (55/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 A T 7: 143,447,858 (GRCm39) K234* probably null Het
Ccdc178 A G 18: 22,157,841 (GRCm39) L539P probably damaging Het
Cd5 T A 19: 10,698,638 (GRCm39) N423I probably damaging Het
Ceacam20 C T 7: 19,710,041 (GRCm39) T355I probably damaging Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Cln8 T C 8: 14,945,030 (GRCm39) F115L probably benign Het
Cpne9 T A 6: 113,259,418 (GRCm39) probably benign Het
Cyp4a32 C T 4: 115,478,720 (GRCm39) T484I possibly damaging Het
Des C G 1: 75,339,228 (GRCm39) A251G probably benign Het
Dnah3 T C 7: 119,682,516 (GRCm39) D270G probably damaging Het
Epc1 T C 18: 6,453,578 (GRCm39) E249G possibly damaging Het
Fsbp T A 4: 11,584,058 (GRCm39) N252K probably benign Het
Gramd1a C A 7: 30,831,940 (GRCm39) probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Igsf10 C T 3: 59,227,152 (GRCm39) V2174M probably damaging Het
Kcnu1 T C 8: 26,352,445 (GRCm39) L204P probably damaging Het
Kdm7a T C 6: 39,125,911 (GRCm39) E628G probably benign Het
Klhl36 T C 8: 120,601,124 (GRCm39) M381T probably damaging Het
Kpna3 A T 14: 61,605,624 (GRCm39) Y474N probably damaging Het
Lsm8 G T 6: 18,849,604 (GRCm39) probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mbd2 T A 18: 70,751,050 (GRCm39) C362S probably damaging Het
Mex3b A G 7: 82,519,238 (GRCm39) R518G probably benign Het
Mical1 T C 10: 41,357,866 (GRCm39) probably benign Het
Myo18a T C 11: 77,748,613 (GRCm39) S1996P probably damaging Het
Or11g7 A G 14: 50,690,827 (GRCm39) Y106C probably damaging Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Otop2 T A 11: 115,220,671 (GRCm39) C504S probably benign Het
Pkhd1 T A 1: 20,279,501 (GRCm39) H2939L probably benign Het
Pkhd1 C T 1: 20,633,910 (GRCm39) V542M probably benign Het
Pkhd1l1 C T 15: 44,455,302 (GRCm39) T4021I probably benign Het
Prr36 T C 8: 4,263,409 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,813,650 (GRCm39) Y517F probably damaging Het
Pth1r A G 9: 110,571,300 (GRCm39) M1T probably null Het
Rdx C A 9: 51,978,680 (GRCm39) L163M probably damaging Het
Reep6 A G 10: 80,169,648 (GRCm39) Y112C probably damaging Het
Rpp21 A G 17: 36,568,611 (GRCm39) probably benign Het
Sacs T A 14: 61,451,393 (GRCm39) C4480S probably damaging Het
Slc15a1 G A 14: 121,703,574 (GRCm39) T512I probably benign Het
Slc22a22 A T 15: 57,119,962 (GRCm39) C170* probably null Het
Slc26a2 C T 18: 61,331,904 (GRCm39) R509K probably benign Het
Slc4a10 A G 2: 62,147,786 (GRCm39) probably benign Het
Tbc1d32 T A 10: 56,100,676 (GRCm39) T101S probably benign Het
Tsc2 T C 17: 24,850,990 (GRCm39) T23A probably benign Het
Vmn1r52 T G 6: 90,156,219 (GRCm39) F174L probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Zfpl1 A G 19: 6,131,170 (GRCm39) L274P probably damaging Het
Other mutations in Stc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Stc1 APN 14 69,275,726 (GRCm39) missense probably benign 0.21
IGL01918:Stc1 APN 14 69,269,103 (GRCm39) splice site probably benign
R0318:Stc1 UTSW 14 69,275,867 (GRCm39) missense probably damaging 0.98
R0322:Stc1 UTSW 14 69,266,858 (GRCm39) missense probably benign 0.08
R1699:Stc1 UTSW 14 69,275,776 (GRCm39) missense probably benign 0.00
R2005:Stc1 UTSW 14 69,269,096 (GRCm39) critical splice donor site probably null
R3801:Stc1 UTSW 14 69,275,924 (GRCm39) missense probably benign
R3803:Stc1 UTSW 14 69,275,924 (GRCm39) missense probably benign
R5206:Stc1 UTSW 14 69,269,048 (GRCm39) missense probably damaging 1.00
R5927:Stc1 UTSW 14 69,269,822 (GRCm39) missense probably benign 0.02
R6059:Stc1 UTSW 14 69,269,887 (GRCm39) missense probably damaging 1.00
R6185:Stc1 UTSW 14 69,275,813 (GRCm39) missense probably damaging 1.00
R7722:Stc1 UTSW 14 69,269,729 (GRCm39) missense possibly damaging 0.76
R8001:Stc1 UTSW 14 69,275,844 (GRCm39) missense probably benign 0.34
R8870:Stc1 UTSW 14 69,275,825 (GRCm39) missense probably benign 0.01
R8944:Stc1 UTSW 14 69,269,884 (GRCm39) missense possibly damaging 0.57
Predicted Primers
Posted On 2015-06-10