Incidental Mutation 'R6752:Sostdc1'
ID 530845
Institutional Source Beutler Lab
Gene Symbol Sostdc1
Ensembl Gene ENSMUSG00000036169
Gene Name sclerostin domain containing 1
Synonyms ectodin, Sostl, Wise, USAG-1
MMRRC Submission 044869-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R6752 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 36364168-36368451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36364411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000040230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041407]
AlphaFold Q9CQN4
Predicted Effect probably benign
Transcript: ENSMUST00000041407
AA Change: V40A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040230
Gene: ENSMUSG00000036169
AA Change: V40A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,086,309 (GRCm39) L45S probably benign Het
Agbl2 G A 2: 90,633,418 (GRCm39) C518Y probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aox1 T C 1: 58,086,398 (GRCm39) I101T probably benign Het
Arhgap23 T C 11: 97,343,074 (GRCm39) F241S probably damaging Het
Asmt A G X: 169,110,096 (GRCm39) M202V probably benign Het
Atp6v0a2 A G 5: 124,779,452 (GRCm39) E189G probably damaging Het
Birc2 G A 9: 7,857,345 (GRCm39) A376V probably benign Het
Ccbe1 C T 18: 66,209,378 (GRCm39) probably null Het
Chst2 C A 9: 95,286,802 (GRCm39) E515* probably null Het
Col12a1 A T 9: 79,540,706 (GRCm39) N2426K possibly damaging Het
Dmrt2 A G 19: 25,655,706 (GRCm39) N435S probably damaging Het
Dnah14 A G 1: 181,421,017 (GRCm39) K123E probably benign Het
Dock4 T A 12: 40,870,616 (GRCm39) L1452Q probably damaging Het
Galnt7 G A 8: 58,105,985 (GRCm39) R10C probably damaging Het
Gm16506 A G 14: 43,964,876 (GRCm39) I22T unknown Het
H2-Q6 A G 17: 35,647,103 (GRCm39) T292A probably damaging Het
Ifne A G 4: 88,798,319 (GRCm39) M33T probably benign Het
Igf2r G A 17: 12,933,831 (GRCm39) R808W probably damaging Het
Igfbp5 T C 1: 72,903,068 (GRCm39) E169G probably damaging Het
Inppl1 G A 7: 101,481,749 (GRCm39) R198* probably null Het
Irgm1 T C 11: 48,757,290 (GRCm39) T174A probably damaging Het
Itih3 C T 14: 30,645,446 (GRCm39) G21S possibly damaging Het
Klra4 G T 6: 130,038,991 (GRCm39) Q134K probably benign Het
Mfsd1 T A 3: 67,503,936 (GRCm39) Y309* probably null Het
Mrps10 A G 17: 47,688,740 (GRCm39) N162S probably damaging Het
Mtmr14 T C 6: 113,217,358 (GRCm39) F90S probably damaging Het
Myh15 A G 16: 49,003,290 (GRCm39) D1783G probably damaging Het
Myo3b A G 2: 70,119,856 (GRCm39) E972G probably damaging Het
Myt1 G T 2: 181,442,875 (GRCm39) V455F probably damaging Het
Nbea A T 3: 55,944,640 (GRCm39) S575T probably benign Het
Nbea T A 3: 55,875,730 (GRCm39) T1647S probably benign Het
Ntn4 A G 10: 93,570,037 (GRCm39) N466S probably benign Het
Or10ag52 A G 2: 87,043,388 (GRCm39) M51V probably benign Het
Or5b114-ps1 T A 19: 13,352,890 (GRCm39) L188H unknown Het
Or5h27 T A 16: 59,006,694 (GRCm39) N51Y probably damaging Het
Pcdhgb4 T A 18: 37,853,704 (GRCm39) I33N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pom121l2 T G 13: 22,165,939 (GRCm39) F70C probably damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Rab11fip2 T C 19: 59,895,475 (GRCm39) D471G probably damaging Het
Rnh1 A G 7: 140,743,354 (GRCm39) V207A probably benign Het
Sh3tc2 C A 18: 62,094,108 (GRCm39) T49N probably benign Het
Skint4 T C 4: 111,977,060 (GRCm39) M158T possibly damaging Het
Skint7 T A 4: 111,837,463 (GRCm39) H80Q probably benign Het
Smg1 A G 7: 117,762,539 (GRCm39) probably benign Het
Sptlc1 C A 13: 53,489,394 (GRCm39) K437N possibly damaging Het
Stat2 T C 10: 128,119,622 (GRCm39) F503L probably damaging Het
Syt16 A T 12: 74,275,987 (GRCm39) probably null Het
Tspyl1 T C 10: 34,158,583 (GRCm39) S103P probably benign Het
Ube4a A T 9: 44,837,246 (GRCm39) S1053R probably damaging Het
Vipr1 A G 9: 121,482,959 (GRCm39) N58S probably damaging Het
Zfp184 C A 13: 22,143,578 (GRCm39) A428E probably damaging Het
Zfp292 A C 4: 34,808,593 (GRCm39) F1484V possibly damaging Het
Zfp599 G A 9: 22,160,840 (GRCm39) H442Y probably damaging Het
Zfp944 G A 17: 22,558,500 (GRCm39) T249I probably benign Het
Zkscan14 T A 5: 145,132,316 (GRCm39) H405L probably damaging Het
Other mutations in Sostdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Sostdc1 APN 12 36,367,121 (GRCm39) missense probably damaging 1.00
R0588:Sostdc1 UTSW 12 36,367,020 (GRCm39) splice site probably benign
R0671:Sostdc1 UTSW 12 36,367,340 (GRCm39) missense probably damaging 0.99
R2184:Sostdc1 UTSW 12 36,367,295 (GRCm39) missense probably damaging 0.97
R4320:Sostdc1 UTSW 12 36,367,419 (GRCm39) missense probably benign 0.04
R4480:Sostdc1 UTSW 12 36,367,165 (GRCm39) missense probably damaging 0.99
R5511:Sostdc1 UTSW 12 36,367,165 (GRCm39) missense probably damaging 1.00
R5589:Sostdc1 UTSW 12 36,367,246 (GRCm39) nonsense probably null
R5665:Sostdc1 UTSW 12 36,364,407 (GRCm39) missense probably benign 0.39
R6453:Sostdc1 UTSW 12 36,364,407 (GRCm39) missense probably benign 0.39
R7232:Sostdc1 UTSW 12 36,367,310 (GRCm39) missense possibly damaging 0.87
R8810:Sostdc1 UTSW 12 36,367,229 (GRCm39) missense possibly damaging 0.88
R9019:Sostdc1 UTSW 12 36,364,431 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- CTTGGGAAGGGATTCCACAGTC -3'
(R):5'- TGCAAAAGCGTAGATGGTTCAC -3'

Sequencing Primer
(F):5'- AGGGATTCCACAGTCCACAGTG -3'
(R):5'- GTGCTACTGAAATGCCTG -3'
Posted On 2018-08-01