Incidental Mutation 'IGL01954:Sostdc1'
ID181389
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sostdc1
Ensembl Gene ENSMUSG00000036169
Gene Namesclerostin domain containing 1
Synonymsectodin, Wise, Sostl, USAG-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.333) question?
Stock #IGL01954
Quality Score
Status
Chromosome12
Chromosomal Location36314139-36318452 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36317122 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 99 (V99A)
Ref Sequence ENSEMBL: ENSMUSP00000040230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041407]
Predicted Effect probably damaging
Transcript: ENSMUST00000041407
AA Change: V99A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040230
Gene: ENSMUSG00000036169
AA Change: V99A

DomainStartEndE-ValueType
Pfam:Sclerostin 6 206 2.1e-112 PFAM
Pfam:DAN 47 168 3.2e-17 PFAM
Pfam:Cys_knot 72 185 1.2e-7 PFAM
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 is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene cause variable defects in many aspects of tooth development, including tooth number, size and cusp pattern. Observed phenotypes may include cranial and palatal defects, neonatal death, altered trigeminal ganglion morphology, and resistance to cisplatin-induced renal injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T A 1: 93,152,072 D432V probably damaging Het
4931406P16Rik A T 7: 34,245,035 W91R probably damaging Het
Acsm3 T C 7: 119,775,083 probably benign Het
Ankrd26 T A 6: 118,559,005 Y156F possibly damaging Het
Bcr G A 10: 75,175,341 probably null Het
Cpn2 C T 16: 30,260,320 A188T probably benign Het
Ctdsp1 T C 1: 74,394,083 probably benign Het
Cts7 T A 13: 61,352,823 R303S probably benign Het
Dock7 T C 4: 99,083,151 D59G probably damaging Het
Gm436 A T 4: 144,670,171 D330E probably damaging Het
Gpr149 T C 3: 62,530,927 N603S probably benign Het
Gucy2g A G 19: 55,198,691 I1099T probably benign Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Ighv1-80 A T 12: 115,912,633 V21D probably benign Het
Klhl18 T C 9: 110,428,866 Y432C probably damaging Het
Lama4 A G 10: 39,087,299 D1289G probably benign Het
Mcm7 T C 5: 138,167,245 T466A probably damaging Het
Megf8 A G 7: 25,349,014 E1704G possibly damaging Het
Mettl25 C T 10: 105,823,207 C405Y probably damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Ndc1 T A 4: 107,395,804 I590N probably damaging Het
Npnt G T 3: 132,909,963 N137K probably damaging Het
Numa1 C T 7: 101,996,093 R309* probably null Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr110 C A 17: 37,498,649 probably benign Het
Olfr266 A G 3: 106,821,995 I188T possibly damaging Het
Pcdhb9 G T 18: 37,401,741 V263F probably damaging Het
Pld4 T C 12: 112,767,921 probably null Het
Ppp2r3c A G 12: 55,292,568 L170P probably damaging Het
Prex2 T A 1: 11,140,011 D558E possibly damaging Het
Rasal2 A G 1: 157,177,699 S227P possibly damaging Het
Rasal2 A T 1: 157,176,116 D324E probably damaging Het
Rcbtb1 A G 14: 59,229,967 Y418C probably damaging Het
Rhag T C 17: 40,828,450 F92S possibly damaging Het
Scel T C 14: 103,603,242 probably benign Het
Serinc5 A G 13: 92,682,933 N125S probably damaging Het
Sgpl1 A T 10: 61,100,893 M561K probably benign Het
Them6 A G 15: 74,721,689 Y132C probably damaging Het
Vmn2r27 A T 6: 124,192,248 F641Y probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13c A G 9: 67,969,298 Y3384C probably damaging Het
Zbtb32 G T 7: 30,589,928 probably null Het
Other mutations in Sostdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0588:Sostdc1 UTSW 12 36317021 splice site probably benign
R0671:Sostdc1 UTSW 12 36317341 missense probably damaging 0.99
R2184:Sostdc1 UTSW 12 36317296 missense probably damaging 0.97
R4320:Sostdc1 UTSW 12 36317420 missense probably benign 0.04
R4480:Sostdc1 UTSW 12 36317166 missense probably damaging 0.99
R5511:Sostdc1 UTSW 12 36317166 missense probably damaging 1.00
R5589:Sostdc1 UTSW 12 36317247 nonsense probably null
R5665:Sostdc1 UTSW 12 36314408 missense probably benign 0.39
R6453:Sostdc1 UTSW 12 36314408 missense probably benign 0.39
R6752:Sostdc1 UTSW 12 36314412 missense probably benign 0.00
R7232:Sostdc1 UTSW 12 36317311 missense possibly damaging 0.87
R8810:Sostdc1 UTSW 12 36317230 missense possibly damaging 0.88
Posted On2014-05-07