Incidental Mutation 'R5206:Stc1'
ID 402047
Institutional Source Beutler Lab
Gene Symbol Stc1
Ensembl Gene ENSMUSG00000014813
Gene Name stanniocalcin 1
Synonyms
MMRRC Submission 042781-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # R5206 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 69266738-69278850 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69269048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 72 (D72V)
Ref Sequence ENSEMBL: ENSMUSP00000014957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014957]
AlphaFold O55183
Predicted Effect probably damaging
Transcript: ENSMUST00000014957
AA Change: D72V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014957
Gene: ENSMUSG00000014813
AA Change: D72V

DomainStartEndE-ValueType
Pfam:Stanniocalcin 6 206 1.6e-104 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224911
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,772,272 (GRCm39) E487G probably benign Het
2610021A01Rik A T 7: 41,276,009 (GRCm39) K571* probably null Het
A2m T C 6: 121,651,766 (GRCm39) V1278A probably damaging Het
Abcc2 T C 19: 43,806,589 (GRCm39) V801A probably damaging Het
Acod1 T A 14: 103,292,731 (GRCm39) D418E possibly damaging Het
Bsn G A 9: 107,982,572 (GRCm39) A3727V unknown Het
Cmah T G 13: 24,648,267 (GRCm39) F501V probably damaging Het
Csf2rb2 T A 15: 78,176,952 (GRCm39) I173L probably benign Het
Dnah12 T C 14: 26,491,942 (GRCm39) W1126R probably damaging Het
Dock5 G T 14: 68,000,633 (GRCm39) A1690E probably benign Het
Dop1b T C 16: 93,598,472 (GRCm39) L1879P probably damaging Het
Eif3j2 A T 18: 43,610,647 (GRCm39) D55E probably benign Het
Fam83f G A 15: 80,576,255 (GRCm39) G302D possibly damaging Het
Fus G A 7: 127,568,969 (GRCm39) G40D unknown Het
Glrp1 GTGCTGCTGCTGCTGCTGCTGCTGCTG GTGCTGCTGCTGCTGCTGCTGCTG 1: 88,430,997 (GRCm39) probably benign Het
Gxylt2 T C 6: 100,781,576 (GRCm39) V417A probably damaging Het
Hhipl1 G A 12: 108,278,437 (GRCm39) R255H probably damaging Het
Ints8 A T 4: 11,216,477 (GRCm39) I838N possibly damaging Het
Lama5 C A 2: 179,833,097 (GRCm39) C1579F probably damaging Het
Med13 C T 11: 86,210,705 (GRCm39) R479H probably damaging Het
Or51ag1 A T 7: 103,155,309 (GRCm39) Y281* probably null Het
Or5b113 G T 19: 13,342,429 (GRCm39) G146C possibly damaging Het
Or5k15 G T 16: 58,710,381 (GRCm39) N67K probably damaging Het
Or6e1 T A 14: 54,520,155 (GRCm39) M66L probably benign Het
Or9g3 T A 2: 85,589,967 (GRCm39) Y251F probably benign Het
Pak6 A G 2: 118,523,784 (GRCm39) E313G probably benign Het
Pigs T A 11: 78,224,549 (GRCm39) Y145N probably damaging Het
Pla2g2f T A 4: 138,479,662 (GRCm39) D165V probably benign Het
Plbd1 C T 6: 136,618,154 (GRCm39) V133M probably benign Het
Ppp1r14bl C T 1: 23,141,183 (GRCm39) G44R probably benign Het
Ryr3 T C 2: 112,675,056 (GRCm39) Y1352C probably damaging Het
Scamp1 C T 13: 94,368,615 (GRCm39) R51H probably damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Slc2a2 G A 3: 28,762,756 (GRCm39) V100M probably damaging Het
Slc38a10 C G 11: 119,995,888 (GRCm39) A1062P probably damaging Het
Snai1 T C 2: 167,380,888 (GRCm39) I127T probably benign Het
Stat4 G A 1: 52,144,395 (GRCm39) G692D probably damaging Het
Tmc1 T C 19: 20,804,024 (GRCm39) N351S probably damaging Het
Trim28 A G 7: 12,759,275 (GRCm39) I130V probably benign Het
Trim39 A G 17: 36,571,382 (GRCm39) Y459H probably damaging Het
Ugt1a6b C A 1: 88,035,170 (GRCm39) Y169* probably null Het
Vasp T C 7: 18,992,780 (GRCm39) probably benign Het
Vmn2r99 G T 17: 19,598,868 (GRCm39) G184V probably benign Het
Xrcc1 C T 7: 24,266,988 (GRCm39) T358I probably damaging Het
Zfp219 A G 14: 52,247,022 (GRCm39) V35A probably benign 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
R4184:Stc1 UTSW 14 69,266,834 (GRCm39) start gained probably benign
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 PCR Primer
(F):5'- CCCAAATCAAATTCCGAGGGTAAG -3'
(R):5'- ATGTTTGCAAGCCTGGGATG -3'

Sequencing Primer
(F):5'- AGATCATGTGCCCTTGGTATTAGAC -3'
(R):5'- CCTGGGATGAGCCTGGTTAGAAG -3'
Posted On 2016-07-22