Mutagenetix > Incidental Mutation

Incidental Mutation 'R4710:Sost'

353226

Institutional Source

Beutler Lab

Gene Symbol

Sost

Ensembl Gene

ENSMUSG00000001494

Gene Name

sclerostin

Synonyms

5430411E23Rik

MMRRC Submission

042019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101853284-101857841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101857670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 44 (P44S)

Ref Sequence

ENSEMBL: ENSMUSP00000001534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001534] [ENSMUST00000003612] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000151678]

AlphaFold

Q99P68

Predicted Effect

probably damaging
Transcript: ENSMUST00000001534
AA Change: P44S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001534
Gene: ENSMUSG00000001494
AA Change: P44S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000003612

SMART Domains

Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107172

SMART Domains

Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107173

SMART Domains

Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	54	201	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151678

SMART Domains

Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	3	108	6.99e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176599

Meta Mutation Damage Score

0.3937

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (75/76)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,618,262 (GRCm39)	Q185L	probably benign	Het
Acaca	T	A	11: 84,283,163 (GRCm39)	I2243N	possibly damaging	Het
Adamts18	A	G	8: 114,433,558 (GRCm39)	S1059P	probably damaging	Het
Aox4	A	T	1: 58,294,797 (GRCm39)	K1002M	probably damaging	Het
Ap1b1	A	G	11: 4,981,664 (GRCm39)	Y524C	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cntn2	T	A	1: 132,455,963 (GRCm39)	H185L	possibly damaging	Het
Col4a2	C	A	8: 11,459,462 (GRCm39)	P299Q	probably benign	Het
Commd3	A	G	2: 18,679,093 (GRCm39)	N106S	probably benign	Het
Coro7	T	G	16: 4,452,797 (GRCm39)		probably benign	Het
Ctf1	C	A	7: 127,316,252 (GRCm39)	P66Q	probably damaging	Het
Dclre1c	T	C	2: 3,441,898 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,529,493 (GRCm39)	L317Q	probably damaging	Het
Dnah2	A	G	11: 69,368,903 (GRCm39)	L1667P	probably damaging	Het
Dpp4	A	G	2: 62,190,659 (GRCm39)	I399T	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Erg	T	C	16: 95,190,893 (GRCm39)	D90G	possibly damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Gimd1	T	C	3: 132,340,609 (GRCm39)	S42P	possibly damaging	Het
Gm5526	T	A	1: 45,896,579 (GRCm39)		noncoding transcript	Het
Gnl2	T	A	4: 124,947,252 (GRCm39)	S625T	probably benign	Het
H2-Q2	A	G	17: 35,562,278 (GRCm39)	E175G	probably damaging	Het
Hmgxb3	G	A	18: 61,270,547 (GRCm39)	P926S	probably damaging	Het
Ifi213	G	A	1: 173,394,738 (GRCm39)		probably benign	Het
Inhba	T	C	13: 16,201,068 (GRCm39)	V210A	probably benign	Het
Kansl1l	G	A	1: 66,840,655 (GRCm39)	A215V	possibly damaging	Het
Kcnk1	T	A	8: 126,756,267 (GRCm39)	V263D	probably damaging	Het
Kcnk9	A	G	15: 72,384,824 (GRCm39)	I118T	probably damaging	Het
Lamb1	A	G	12: 31,332,582 (GRCm39)	I283V	probably benign	Het
Larp7-ps	T	C	4: 92,079,212 (GRCm39)	E203G	possibly damaging	Het
Lias	A	G	5: 65,555,070 (GRCm39)	D88G	probably benign	Het
Lrrk2	G	A	15: 91,584,130 (GRCm39)	V297M	possibly damaging	Het
Maea	C	T	5: 33,526,034 (GRCm39)	R237C	probably benign	Het
Mdfi	T	A	17: 48,135,511 (GRCm39)	N73I	probably damaging	Het
Mphosph6	T	A	8: 118,528,641 (GRCm39)	M1L	probably damaging	Het
Mta2	T	A	19: 8,926,517 (GRCm39)	I486N	probably damaging	Het
Nbr1	C	T	11: 101,466,101 (GRCm39)	P769L	probably damaging	Het
Ncam2	T	A	16: 81,262,594 (GRCm39)		probably null	Het
Ndel1	A	G	11: 68,736,163 (GRCm39)	Y26H	probably damaging	Het
Neb	T	C	2: 52,150,610 (GRCm39)	R2473G	probably benign	Het
Or10ag53	T	A	2: 87,082,384 (GRCm39)	D34E	possibly damaging	Het
Or2t46	A	T	11: 58,472,548 (GRCm39)	I293F	probably damaging	Het
Or4c3d	T	C	2: 89,882,494 (GRCm39)	Y58C	probably damaging	Het
Or5h19	T	A	16: 58,856,638 (GRCm39)	H154L	possibly damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Prkn	A	C	17: 12,073,720 (GRCm39)	Q346P	possibly damaging	Het
Prrc2b	T	A	2: 32,083,869 (GRCm39)	S236R	possibly damaging	Het
Rae1	G	T	2: 172,857,185 (GRCm39)		probably benign	Het
Rnf112	T	C	11: 61,340,657 (GRCm39)	D491G	probably damaging	Het
Rnf220	C	T	4: 117,146,411 (GRCm39)		probably benign	Het
Ryr3	G	A	2: 112,596,646 (GRCm39)	L2483F	probably damaging	Het
Sema6a	T	C	18: 47,403,750 (GRCm39)	N624S	probably benign	Het
Sgms1	C	T	19: 32,137,537 (GRCm39)	V10M	probably damaging	Het
Slc23a2	T	C	2: 131,898,629 (GRCm39)	N636S	probably benign	Het
Slc25a48	C	T	13: 56,611,379 (GRCm39)	T162I	probably damaging	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Snrnp200	T	C	2: 127,068,053 (GRCm39)	L850P	probably damaging	Het
Sox18	A	G	2: 181,312,688 (GRCm39)	Y148H	probably damaging	Het
Stk-ps1	A	G	17: 36,708,562 (GRCm39)		noncoding transcript	Het
Tas2r104	T	A	6: 131,662,407 (GRCm39)	T101S	probably damaging	Het
Traf3ip2	C	T	10: 39,515,256 (GRCm39)	P345S	possibly damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn2r4	A	G	3: 64,317,201 (GRCm39)		probably null	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfat	A	T	15: 68,052,131 (GRCm39)	D554E	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	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
R2182:Sost	UTSW	11	101,854,676 (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
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'- AAATGTGTCCCTGCCCTGATG -3'
(R):5'- ACCGTATCTAGGCTGGACACTG -3'

Sequencing Primer
(F):5'- TGCCCTGATGTAGCAGAGG -3'
(R):5'- TGGACACTGGAGCCTGTG -3'

Posted On

2015-10-21