Incidental Mutation 'R7722:Stc1'
ID 595298
Institutional Source Beutler Lab
Gene Symbol Stc1
Ensembl Gene ENSMUSG00000014813
Gene Name stanniocalcin 1
Synonyms
MMRRC Submission 045778-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R7722 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 69266738-69278850 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69269729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 103 (I103N)
Ref Sequence ENSEMBL: ENSMUSP00000014957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014957]
AlphaFold O55183
Predicted Effect possibly damaging
Transcript: ENSMUST00000014957
AA Change: I103N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014957
Gene: ENSMUSG00000014813
AA Change: I103N

DomainStartEndE-ValueType
Pfam:Stanniocalcin 6 206 1.6e-104 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,029,231 (GRCm39) E151G probably benign Het
Alpk2 A T 18: 65,483,228 (GRCm39) L260H probably damaging Het
Amh T C 10: 80,642,458 (GRCm39) V247A probably benign Het
Ank2 T A 3: 126,822,951 (GRCm39) I431L probably benign Het
Ano7 G A 1: 93,318,145 (GRCm39) A286T probably damaging Het
Atp8a1 T A 5: 67,780,041 (GRCm39) probably null Het
Brd1 A T 15: 88,613,762 (GRCm39) S378T probably damaging Het
Clrn1 T A 3: 58,753,755 (GRCm39) N202I possibly damaging Het
Cspp1 T C 1: 10,145,126 (GRCm39) V308A probably benign Het
Cyp2a5 T C 7: 26,536,543 (GRCm39) L174P probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Fancm T A 12: 65,153,235 (GRCm39) D1230E probably damaging Het
Fbxl17 A T 17: 63,663,823 (GRCm39) N555K probably damaging Het
Fmnl2 A C 2: 52,944,479 (GRCm39) S153R Het
Fras1 G A 5: 96,917,413 (GRCm39) V3478M probably damaging Het
Gnptab T C 10: 88,215,390 (GRCm39) F37S probably damaging Het
Gpr183 T G 14: 122,192,270 (GRCm39) I84L probably damaging Het
Hcn1 A G 13: 118,039,314 (GRCm39) H410R unknown Het
Hmcn1 A G 1: 150,543,631 (GRCm39) V2848A probably damaging Het
Hmcn2 A T 2: 31,272,512 (GRCm39) R1331* probably null Het
Hsd17b4 A C 18: 50,279,591 (GRCm39) N190T probably damaging Het
Itprid2 T C 2: 79,492,689 (GRCm39) S1079P probably damaging Het
Kif14 A G 1: 136,396,033 (GRCm39) D113G probably benign Het
Kmt2e T G 5: 23,702,016 (GRCm39) D881E probably benign Het
Lamb1 T A 12: 31,373,570 (GRCm39) L1481Q probably damaging Het
Limk2 T C 11: 3,306,092 (GRCm39) probably null Het
Luc7l2 T A 6: 38,580,243 (GRCm39) S281T unknown Het
Map3k5 A G 10: 20,007,891 (GRCm39) D1240G probably benign Het
Med13l C A 5: 118,885,472 (GRCm39) T1475K probably benign Het
Med17 G T 9: 15,182,987 (GRCm39) Q353K probably benign Het
Mlh3 A G 12: 85,314,266 (GRCm39) V640A probably benign Het
Mms22l T A 4: 24,517,201 (GRCm39) Y361N probably damaging Het
Mtmr2 T A 9: 13,716,104 (GRCm39) N532K probably benign Het
Mtss1 G A 15: 58,926,935 (GRCm39) T47I probably damaging Het
Mturn T C 6: 54,676,545 (GRCm39) probably null Het
Muc20 A C 16: 32,617,756 (GRCm39) S3A probably benign Het
Nde1 T C 16: 14,008,128 (GRCm39) Y164H unknown Het
Neurl1b A G 17: 26,660,132 (GRCm39) T451A probably benign Het
Or52u1 C A 7: 104,237,505 (GRCm39) Q165K possibly damaging Het
Or8g18 A T 9: 39,148,885 (GRCm39) Y278* probably null Het
Pgap3 G A 11: 98,281,610 (GRCm39) A196V probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scart1 C A 7: 139,802,299 (GRCm39) C209* probably null Het
Sdcbp T A 4: 6,385,063 (GRCm39) V94E possibly damaging Het
Sgo2a T G 1: 58,055,696 (GRCm39) F627V probably benign Het
Skor2 A C 18: 76,950,339 (GRCm39) N889T probably benign Het
Slc35f4 A T 14: 49,543,731 (GRCm39) N288K probably benign Het
Slc9b2 T A 3: 135,035,596 (GRCm39) V355E probably null Het
Smarcc2 A G 10: 128,317,597 (GRCm39) E566G possibly damaging Het
Sorcs2 T C 5: 36,200,871 (GRCm39) E559G probably damaging Het
Sphkap T C 1: 83,256,642 (GRCm39) D369G probably benign Het
Stx8 T C 11: 68,094,544 (GRCm39) V219A probably damaging Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Tshz2 T A 2: 169,727,192 (GRCm39) L596Q probably benign Het
Tti1 A G 2: 157,849,527 (GRCm39) Y571H probably benign Het
Zbtb40 A G 4: 136,718,829 (GRCm39) I956T probably damaging Het
Zfp990 A C 4: 145,263,532 (GRCm39) N177H possibly 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
R4184:Stc1 UTSW 14 69,266,834 (GRCm39) start gained 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
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'- GAGCTGAGTGTTCAAGATAGTCC -3'
(R):5'- ACTCTGGTTATGGTGGCCAAC -3'

Sequencing Primer
(F):5'- CTGAGTGTTCAAGATAGTCCAAGAG -3'
(R):5'- CCCCCATGCTGTGAAGAAGAG -3'
Posted On 2019-11-12