Incidental Mutation 'IGL00335:Sost'
ID 6017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sost
Ensembl Gene ENSMUSG00000001494
Gene Name sclerostin
Synonyms 5430411E23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL00335
Quality Score
Status
Chromosome 11
Chromosomal Location 101853284-101857841 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101857705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 32 (D32G)
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: D32G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001534
Gene: ENSMUSG00000001494
AA Change: D32G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151678
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 3 108 6.99e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176599
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,769,833 (GRCm39) noncoding transcript Het
4930579F01Rik C A 3: 137,891,959 (GRCm39) probably benign Het
Aurkc T A 7: 6,999,547 (GRCm39) I18N probably damaging Het
Bace1 T C 9: 45,750,588 (GRCm39) probably null Het
Chrne C T 11: 70,506,588 (GRCm39) V311I probably benign Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cyp2c70 C T 19: 40,156,020 (GRCm39) V177M probably damaging Het
Dusp10 A G 1: 183,801,328 (GRCm39) E365G probably benign Het
Fcgbp C A 7: 27,785,560 (GRCm39) N332K possibly damaging Het
Irx4 T C 13: 73,416,810 (GRCm39) V402A probably benign Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lama3 A G 18: 12,582,645 (GRCm39) probably benign Het
Lhfpl7 A G 5: 113,383,869 (GRCm39) R96G probably benign Het
Lrrc8b T C 5: 105,628,365 (GRCm39) I237T probably damaging Het
Mepe G T 5: 104,485,843 (GRCm39) G328C probably damaging Het
Numb A G 12: 83,854,906 (GRCm39) I129T probably damaging Het
Or5h25 T C 16: 58,930,961 (GRCm39) D4G probably benign Het
Or6c209 T C 10: 129,483,306 (GRCm39) I103T probably benign Het
Osmr T C 15: 6,866,504 (GRCm39) D390G probably benign Het
Pglyrp3 G A 3: 91,929,986 (GRCm39) V51I probably damaging Het
Phactr2 T C 10: 13,121,279 (GRCm39) T470A probably damaging Het
Psmg1 G A 16: 95,781,268 (GRCm39) T259I possibly damaging Het
Rtl3 T C X: 105,882,543 (GRCm39) T240A probably benign Het
Ryr1 C T 7: 28,824,385 (GRCm39) probably null Het
Slc10a6 A G 5: 103,756,991 (GRCm39) S258P probably benign Het
Slc1a6 T C 10: 78,637,647 (GRCm39) L391P probably damaging Het
Slc6a7 C T 18: 61,134,681 (GRCm39) V465M possibly damaging Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Tifab A G 13: 56,324,282 (GRCm39) S54P probably damaging Het
Tnrc6a T A 7: 122,770,003 (GRCm39) S598T probably benign Het
Vmn2r1 T A 3: 64,012,809 (GRCm39) I890N probably damaging Het
Wapl A G 14: 34,414,593 (GRCm39) D485G probably benign Het
Wee2 A T 6: 40,438,995 (GRCm39) I373F probably damaging Het
Xkr6 A G 14: 64,056,664 (GRCm39) T192A probably damaging Het
Zfp638 A G 6: 83,956,700 (GRCm39) D1769G probably damaging Het
Other mutations in Sost
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20