Mutagenetix > Incidental Mutation

Incidental Mutation 'R2182:Sost'

237251

Institutional Source

Beutler Lab

Gene Symbol

Sost

Ensembl Gene

ENSMUSG00000001494

Gene Name

sclerostin

Synonyms

5430411E23Rik

MMRRC Submission

040184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R2182 (G1)

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

101853284-101857841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101854676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 211 (Y211C)

Ref Sequence

ENSEMBL: ENSMUSP00000001534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001534]

AlphaFold

Q99P68

Predicted Effect

probably damaging
Transcript: ENSMUST00000001534
AA Change: Y211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001534
Gene: ENSMUSG00000001494
AA Change: Y211C

Domain	Start	End	E-Value	Type
Pfam:Sclerostin	1	208	8e-98	PFAM
Pfam:DAN	51	168	1.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123249

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit an increase in trabecular and cortical bone volume, mineral density, and formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,334,243 (GRCm39)	H17R	probably damaging	Het
Abca15	G	A	7: 119,939,450 (GRCm39)	W281*	probably null	Het
Aloxe3	G	A	11: 69,020,426 (GRCm39)	V157M	possibly damaging	Het
Arhgap26	G	T	18: 39,490,862 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,504,563 (GRCm39)	N698S	probably damaging	Het
Clec4a4	A	G	6: 122,990,716 (GRCm39)		probably null	Het
Clgn	C	T	8: 84,137,039 (GRCm39)	T252I	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,571 (GRCm39)	N179Y	probably damaging	Het
D630045J12Rik	C	T	6: 38,151,082 (GRCm39)		probably null	Het
Dennd5a	G	T	7: 109,533,201 (GRCm39)	R190S	probably benign	Het
Dtx4	C	A	19: 12,460,471 (GRCm39)	G384V	probably null	Het
Dxo	T	C	17: 35,057,868 (GRCm39)	V191A	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fntb	A	G	12: 76,909,309 (GRCm39)	N99S	probably benign	Het
Gm5773	T	A	3: 93,680,820 (GRCm39)	I164K	probably benign	Het
Golm2	A	G	2: 121,697,909 (GRCm39)	D75G	probably damaging	Het
Hyal5	T	C	6: 24,877,879 (GRCm39)	I325T	probably damaging	Het
Igsf8	G	A	1: 172,118,295 (GRCm39)		probably null	Het
Lamc2	A	G	1: 153,002,612 (GRCm39)	V17A	possibly damaging	Het
Lpxn	T	C	19: 12,810,122 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,386,464 (GRCm39)	V1296A	probably damaging	Het
Mpdz	A	T	4: 81,266,959 (GRCm39)	L318Q	probably damaging	Het
Mpl	T	A	4: 118,314,610 (GRCm39)	Q13L	probably benign	Het
Mpnd	A	G	17: 56,322,964 (GRCm39)	S399G	probably benign	Het
Mrps5	T	C	2: 127,444,407 (GRCm39)	L347P	probably damaging	Het
Naip1	T	A	13: 100,550,188 (GRCm39)	Q1217H	probably benign	Het
Nav2	G	A	7: 49,247,002 (GRCm39)	V2176I	probably benign	Het
Obi1	A	G	14: 104,743,612 (GRCm39)	S156P	possibly damaging	Het
Or13p3	T	C	4: 118,567,542 (GRCm39)	*313R	probably null	Het
Or7g33	T	C	9: 19,448,638 (GRCm39)	N196S	probably benign	Het
Or8b43	A	G	9: 38,360,420 (GRCm39)	N84S	probably benign	Het
Or8g36	A	T	9: 39,422,722 (GRCm39)	M98K	probably damaging	Het
Pbx2	C	A	17: 34,814,640 (GRCm39)	Y324*	probably null	Het
Pcsk7	T	A	9: 45,839,917 (GRCm39)	C702S	probably benign	Het
Pramel11	T	A	4: 143,623,760 (GRCm39)	H138L	possibly damaging	Het
Rictor	T	C	15: 6,801,685 (GRCm39)	S458P	probably damaging	Het
Scaf4	T	C	16: 90,027,028 (GRCm39)	M905V	probably benign	Het
Scarf2	T	C	16: 17,620,886 (GRCm39)	C185R	probably damaging	Het
Scd1	T	G	19: 44,391,732 (GRCm39)	I101L	probably benign	Het
Slc6a2	A	G	8: 93,687,876 (GRCm39)	M1V	probably null	Het
Sphkap	A	G	1: 83,254,405 (GRCm39)	S828P	probably damaging	Het
Tnn	T	C	1: 159,968,170 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,745,816 (GRCm39)	K1319R	unknown	Het
Vmn2r60	A	G	7: 41,844,931 (GRCm39)	T765A	probably benign	Het
Vmn2r91	C	A	17: 18,325,691 (GRCm39)	T103K	possibly damaging	Het
Zbtb44	T	C	9: 30,977,972 (GRCm39)	C429R	possibly damaging	Het
Zc3h4	G	A	7: 16,156,441 (GRCm39)	G327D	unknown	Het
Zfp292	A	G	4: 34,807,417 (GRCm39)	C1876R	probably damaging	Het
Zfp839	C	T	12: 110,834,772 (GRCm39)	L676F	probably damaging	Het
Zg16	A	G	7: 126,649,544 (GRCm39)	L139P	probably damaging	Het
Zscan12	A	G	13: 21,552,961 (GRCm39)	I262V	probably benign	Het

Other mutations in Sost

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Sost	APN	11	101,857,705 (GRCm39)	missense	probably damaging	1.00
IGL02487:Sost	APN	11	101,857,633 (GRCm39)	missense	possibly damaging	0.64
IGL02967:Sost	APN	11	101,855,084 (GRCm39)	missense	possibly damaging	0.50
R0724:Sost	UTSW	11	101,857,744 (GRCm39)	missense	probably benign	0.04
R1873:Sost	UTSW	11	101,855,069 (GRCm39)	missense	probably damaging	1.00
R3429:Sost	UTSW	11	101,854,865 (GRCm39)	missense	probably damaging	1.00
R4428:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4430:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4464:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4537:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4539:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4540:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4541:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4542:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R4710:Sost	UTSW	11	101,857,670 (GRCm39)	missense	probably damaging	0.97
R5125:Sost	UTSW	11	101,854,767 (GRCm39)	missense	probably damaging	1.00
R7297:Sost	UTSW	11	101,854,929 (GRCm39)	missense	probably damaging	1.00
R7779:Sost	UTSW	11	101,857,675 (GRCm39)	missense	possibly damaging	0.75
R9617:Sost	UTSW	11	101,854,892 (GRCm39)	missense	possibly damaging	0.85
RF013:Sost	UTSW	11	101,854,958 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGACTCAAGCTTCCTCTC -3'
(R):5'- GCAGATGTGTCCGAGTACAG -3'

Sequencing Primer
(F):5'- GACTCAAGCTTCCTCTCCTGGC -3'
(R):5'- ATGTGTCCGAGTACAGCTGCC -3'

Posted On

2014-10-02