Incidental Mutation 'IGL01918:Stc1'
ID 180030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stc1
Ensembl Gene ENSMUSG00000014813
Gene Name stanniocalcin 1
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # IGL01918
Quality Score
Status
Chromosome 14
Chromosomal Location 69266738-69278850 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 69269103 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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,097,098 (GRCm39) Q71R probably benign Het
Ankfy1 T C 11: 72,631,281 (GRCm39) V409A probably benign Het
Ap4m1 A G 5: 138,171,106 (GRCm39) T69A probably damaging Het
B3gat2 A T 1: 23,884,209 (GRCm39) K306* probably null Het
Calr A G 8: 85,569,479 (GRCm39) probably benign Het
Ccdc54 C T 16: 50,411,215 (GRCm39) W17* probably null Het
Cd68 T C 11: 69,555,927 (GRCm39) S204G possibly damaging Het
Cep128 A T 12: 91,200,984 (GRCm39) I342K probably damaging Het
Ces1d T A 8: 93,904,703 (GRCm39) I346L probably benign Het
Cfap70 T A 14: 20,475,467 (GRCm39) D418V possibly damaging Het
Cntnap4 A T 8: 113,478,866 (GRCm39) R197S possibly damaging Het
Ddx31 G T 2: 28,764,176 (GRCm39) V461F probably damaging Het
Eps15l1 T C 8: 73,121,756 (GRCm39) M714V possibly damaging Het
Fshb A T 2: 106,889,272 (GRCm39) F11I probably benign Het
Fsip2 T G 2: 82,822,482 (GRCm39) C6072G possibly damaging Het
Fuz T G 7: 44,546,383 (GRCm39) L93R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm8991 G A 5: 16,935,678 (GRCm39) noncoding transcript Het
Itga11 C A 9: 62,680,278 (GRCm39) N973K probably benign Het
Lca5 T A 9: 83,305,201 (GRCm39) T202S probably damaging Het
Lrp1 G A 10: 127,390,458 (GRCm39) L3053F probably damaging Het
Mapk13 T C 17: 28,994,304 (GRCm39) Y129H probably damaging Het
Mast1 T A 8: 85,647,838 (GRCm39) H512L probably damaging Het
Mlip T C 9: 77,081,281 (GRCm39) N213S probably damaging Het
Mtcl1 C T 17: 66,675,263 (GRCm39) G734R possibly damaging Het
Myo9a T A 9: 59,686,985 (GRCm39) I30N probably damaging Het
Or4b13 A G 2: 90,082,675 (GRCm39) I219T probably damaging Het
Pctp T C 11: 89,878,162 (GRCm39) D124G probably benign Het
Phc3 A G 3: 30,968,565 (GRCm39) probably null Het
Plat T A 8: 23,270,453 (GRCm39) F457I possibly damaging Het
Snw1 T C 12: 87,502,438 (GRCm39) K319E probably benign Het
Sox8 A G 17: 25,789,111 (GRCm39) L129P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Szt2 A G 4: 118,241,450 (GRCm39) probably benign Het
Tmem81 T A 1: 132,435,698 (GRCm39) V168D probably damaging Het
Ttc41 C A 10: 86,549,054 (GRCm39) Q83K probably damaging Het
Ugt1a5 T C 1: 88,094,267 (GRCm39) V165A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b A G 7: 79,937,560 (GRCm39) probably null Het
Zap70 T C 1: 36,817,868 (GRCm39) Y290H possibly damaging Het
Other mutations in Stc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Stc1 APN 14 69,275,726 (GRCm39) missense probably benign 0.21
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
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
Posted On 2014-05-07