Mutagenetix > Incidental Mutations

Incidental Mutation 'R8870:Stc1'

676238

Institutional Source

Beutler Lab

Gene Symbol

Stc1

Ensembl Gene

ENSMUSG00000014813

Gene Name

stanniocalcin 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R8870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69029238-69041804 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69038376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 206 (H206L)

Ref Sequence

ENSEMBL: ENSMUSP00000014957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014957]

AlphaFold

O55183

Predicted Effect

probably benign
Transcript: ENSMUST00000014957
AA Change: H206L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000014957
Gene: ENSMUSG00000014813
AA Change: H206L

Domain	Start	End	E-Value	Type
Pfam:Stanniocalcin	6	206	1.6e-104	PFAM

Meta Mutation Damage Score

0.0759

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,721	N1082Y	possibly damaging	Het
3110002H16Rik	A	G	18: 12,188,561	E473G	probably benign	Het
4930444P10Rik	G	A	1: 16,066,227	Q122*	probably null	Het
Ak8	C	T	2: 28,735,590	T215M	probably benign	Het
Ano3	T	A	2: 110,783,729	I210F	probably benign	Het
Atg9b	A	G	5: 24,387,034	F656L	probably damaging	Het
Bscl2	T	C	19: 8,847,429	M292T	probably benign	Het
Cachd1	G	T	4: 100,897,781	C143F	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccnb1ip1	C	T	14: 50,791,993	G204E	probably benign	Het
Ccr1	T	A	9: 123,963,985	L169F	probably benign	Het
Cdc42bpg	A	G	19: 6,314,520	N593D	possibly damaging	Het
Cdh20	T	C	1: 104,945,323	S265P	probably damaging	Het
Cenpk	A	G	13: 104,230,857	E67G	probably damaging	Het
Cep76	A	T	18: 67,640,120	I36K	probably benign	Het
Clock	A	T	5: 76,235,785	I507N	probably benign	Het
Cpne1	T	C	2: 156,078,953	T110A	probably benign	Het
Crybg2	A	T	4: 134,091,214	E1427V	possibly damaging	Het
Ctu1	A	C	7: 43,675,322	K62Q	probably damaging	Het
Drd5	C	A	5: 38,320,404	Q247K	possibly damaging	Het
Ect2l	A	T	10: 18,138,860	L808*	probably null	Het
Ficd	A	T	5: 113,738,187	D141V	probably damaging	Het
Fnbp1	A	G	2: 31,048,210	Y148H		Het
Gm11639	A	G	11: 104,900,674	T2905A	probably benign	Het
Gm14409	T	A	2: 177,265,519	Q62L	probably benign	Het
Gm49368	A	G	7: 128,101,513	K485R	probably benign	Het
Gpr75	C	A	11: 30,891,860	A255D	probably benign	Het
Hcrtr2	G	T	9: 76,246,384	A242D	probably damaging	Het
Iapp	G	T	6: 142,298,876	V10F	probably benign	Het
Ikzf2	A	G	1: 69,683,258	S31P	possibly damaging	Het
Il18rap	G	A	1: 40,525,120		probably benign	Het
Irak2	A	T	6: 113,686,941	N423Y	probably damaging	Het
Itpkb	A	G	1: 180,332,179		probably benign	Het
Itpr1	A	G	6: 108,388,211	I874M	probably damaging	Het
Kif26b	G	T	1: 178,865,029	V512F	probably damaging	Het
Lhx6	G	A	2: 36,105,220		probably benign	Het
Lrfn1	A	G	7: 28,459,493	E279G	possibly damaging	Het
Masp1	A	C	16: 23,496,132	D126E	probably damaging	Het
Mef2a	T	C	7: 67,240,428	I299V	probably benign	Het
Midn	A	G	10: 80,150,105	S10G	probably damaging	Het
Mrps12	A	T	7: 28,739,936	L118Q	probably damaging	Het
Mxi1	G	A	19: 53,371,695	G283S	probably damaging	Het
Mzf1	A	G	7: 13,052,909	V78A	probably benign	Het
Ncoa6	A	G	2: 155,421,158	V452A	probably damaging	Het
Neb	A	G	2: 52,161,469	Y6600H	probably damaging	Het
Nlgn2	A	G	11: 69,825,471	L748P	possibly damaging	Het
Nnmt	A	T	9: 48,603,501	L72H	probably damaging	Het
Nrxn3	A	G	12: 90,204,786	T964A	probably benign	Het
Olfr1277	T	A	2: 111,270,119	I83F	possibly damaging	Het
Olfr1388	T	A	11: 49,444,523	V224E	probably damaging	Het
Olfr197	G	A	16: 59,185,767	P239S	unknown	Het
Olfr251	A	G	9: 38,378,424	N175S	probably benign	Het
Olfr360	A	G	2: 37,068,970	I222V	probably benign	Het
Olfr395	T	G	11: 73,906,899	M198L	probably benign	Het
Olfr952	A	G	9: 39,426,252	V273A	probably damaging	Het
Osbpl11	A	G	16: 33,214,480	N280D	probably benign	Het
Peg10	A	T	6: 4,754,825	Y202F	probably damaging	Het
Pick1	A	G	15: 79,255,907	R469G	unknown	Het
Rev3l	A	G	10: 39,862,790	I2847V	probably damaging	Het
Rnaseh2b	T	A	14: 62,332,168	L18Q	probably damaging	Het
Rpl19	A	G	11: 98,029,789	Y122C	probably benign	Het
Selp	A	G	1: 164,137,218	Y483C	probably damaging	Het
Setd2	T	A	9: 110,594,253	F347L		Het
Snx14	A	G	9: 88,413,488	I208T	probably benign	Het
Spag16	T	A	1: 69,996,858	F348L	probably benign	Het
Spata22	A	T	11: 73,340,265	N115I	probably damaging	Het
Spata31	T	C	13: 64,921,004	V322A	probably benign	Het
Spata5	A	G	3: 37,448,512	N607D	probably benign	Het
Tas2r129	A	G	6: 132,951,559	D153G	probably damaging	Het
Tmem196	T	A	12: 120,018,533	N167K	possibly damaging	Het
Tmpo	T	C	10: 91,151,719	T356A	probably damaging	Het
Tnks	A	G	8: 34,847,279		probably null	Het
Ttbk1	A	C	17: 46,470,735	L364R	probably damaging	Het
Vmn1r176	A	T	7: 23,835,055	N224K	probably damaging	Het
Vmn1r36	T	A	6: 66,716,736	M52L	probably benign	Het
Vmn2r93	A	T	17: 18,305,058	H326L	possibly damaging	Het
Wdr78	C	T	4: 103,087,332		probably null	Het
Wrn	A	T	8: 33,329,192	M244K	probably benign	Het
Zcchc24	C	T	14: 25,757,154	A102T	probably benign	Het

Other mutations in Stc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Stc1	APN	14	69038277	missense	probably benign	0.21
IGL01918:Stc1	APN	14	69031654	splice site	probably benign
R0318:Stc1	UTSW	14	69038418	missense	probably damaging	0.98
R0322:Stc1	UTSW	14	69029409	missense	probably benign	0.08
R1699:Stc1	UTSW	14	69038327	missense	probably benign	0.00
R2005:Stc1	UTSW	14	69031647	critical splice donor site	probably null
R3801:Stc1	UTSW	14	69038475	missense	probably benign
R3803:Stc1	UTSW	14	69038475	missense	probably benign
R4184:Stc1	UTSW	14	69029385	start gained	probably benign
R5206:Stc1	UTSW	14	69031599	missense	probably damaging	1.00
R5927:Stc1	UTSW	14	69032373	missense	probably benign	0.02
R6059:Stc1	UTSW	14	69032438	missense	probably damaging	1.00
R6185:Stc1	UTSW	14	69038364	missense	probably damaging	1.00
R7722:Stc1	UTSW	14	69032280	missense	possibly damaging	0.76
R8001:Stc1	UTSW	14	69038395	missense	probably benign	0.34
R8944:Stc1	UTSW	14	69032435	missense	possibly damaging	0.57

Predicted Primers

PCR Primer
(F):5'- TTGGTGTCTGAACCTGCTCC -3'
(R):5'- ACACTCAAAGTTGGTGTGTCAAC -3'

Sequencing Primer
(F):5'- GAACCTGCTCCTGCCTTTG -3'
(R):5'- CACCCCTAAAATGCTATTAGTTTGG -3'

Posted On

2021-07-15