Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01954:Sostdc1'

181389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sostdc1

Ensembl Gene

ENSMUSG00000036169

Gene Name

sclerostin domain containing 1

Synonyms

ectodin, Sostl, Wise, USAG-1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

IGL01954

Quality Score

Status

Chromosome

Chromosomal Location

36364168-36368451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36367121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 99 (V99A)

Ref Sequence

ENSEMBL: ENSMUSP00000040230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041407]

AlphaFold

Q9CQN4

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,741 (GRCm39)	D330E	probably damaging	Het
Acsm3	T	C	7: 119,374,306 (GRCm39)		probably benign	Het
Ankrd26	T	A	6: 118,535,966 (GRCm39)	Y156F	possibly damaging	Het
Bcr	G	A	10: 75,011,173 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,079,138 (GRCm39)	A188T	probably benign	Het
Ctdsp1	T	C	1: 74,433,242 (GRCm39)		probably benign	Het
Cts7	T	A	13: 61,500,637 (GRCm39)	R303S	probably benign	Het
Dock7	T	C	4: 98,971,388 (GRCm39)	D59G	probably damaging	Het
Garre1	A	T	7: 33,944,460 (GRCm39)	W91R	probably damaging	Het
Gpr149	T	C	3: 62,438,348 (GRCm39)	N603S	probably benign	Het
Gucy2g	A	G	19: 55,187,123 (GRCm39)	I1099T	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Ighv1-80	A	T	12: 115,876,253 (GRCm39)	V21D	probably benign	Het
Klhl18	T	C	9: 110,257,934 (GRCm39)	Y432C	probably damaging	Het
Lama4	A	G	10: 38,963,295 (GRCm39)	D1289G	probably benign	Het
Mab21l4	T	A	1: 93,079,794 (GRCm39)	D432V	probably damaging	Het
Mcm7	T	C	5: 138,165,507 (GRCm39)	T466A	probably damaging	Het
Megf8	A	G	7: 25,048,439 (GRCm39)	E1704G	possibly damaging	Het
Mettl25	C	T	10: 105,659,068 (GRCm39)	C405Y	probably damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Ndc1	T	A	4: 107,253,001 (GRCm39)	I590N	probably damaging	Het
Npnt	G	T	3: 132,615,724 (GRCm39)	N137K	probably damaging	Het
Numa1	C	T	7: 101,645,300 (GRCm39)	R309*	probably null	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or11i1	A	G	3: 106,729,311 (GRCm39)	I188T	possibly damaging	Het
Or5v1	C	A	17: 37,809,540 (GRCm39)		probably benign	Het
Pcdhb9	G	T	18: 37,534,794 (GRCm39)	V263F	probably damaging	Het
Pld4	T	C	12: 112,734,355 (GRCm39)		probably null	Het
Ppp2r3c	A	G	12: 55,339,353 (GRCm39)	L170P	probably damaging	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Rasal2	A	G	1: 157,005,269 (GRCm39)	S227P	possibly damaging	Het
Rasal2	A	T	1: 157,003,686 (GRCm39)	D324E	probably damaging	Het
Rcbtb1	A	G	14: 59,467,416 (GRCm39)	Y418C	probably damaging	Het
Rhag	T	C	17: 41,139,341 (GRCm39)	F92S	possibly damaging	Het
Scel	T	C	14: 103,840,678 (GRCm39)		probably benign	Het
Serinc5	A	G	13: 92,819,441 (GRCm39)	N125S	probably damaging	Het
Sgpl1	A	T	10: 60,936,672 (GRCm39)	M561K	probably benign	Het
Them6	A	G	15: 74,593,538 (GRCm39)	Y132C	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	A	T	6: 124,169,207 (GRCm39)	F641Y	probably damaging	Het
Vps13c	A	G	9: 67,876,580 (GRCm39)	Y3384C	probably damaging	Het
Zbtb32	G	T	7: 30,289,353 (GRCm39)		probably null	Het

Other mutations in Sostdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6752:Sostdc1	UTSW	12	36,364,411 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07