Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:Sostdc1'

437370

Institutional Source

Beutler Lab

Gene Symbol

Sostdc1

Ensembl Gene

ENSMUSG00000036169

Gene Name

sclerostin domain containing 1

Synonyms

ectodin, Sostl, Wise, USAG-1

MMRRC Submission

043142-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R5589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36364168-36368451 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 36367246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 141 (Q141*)

Ref Sequence

ENSEMBL: ENSMUSP00000040230 (fasta)

Gene Model

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

AlphaFold

Q9CQN4

Predicted Effect

probably null
Transcript: ENSMUST00000041407
AA Change: Q141*

SMART Domains

Protein: ENSMUSP00000040230
Gene: ENSMUSG00000036169
AA Change: Q141*

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

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cdh24	G	T	14: 54,874,832 (GRCm39)	T391N	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Gpt2	A	G	8: 86,219,740 (GRCm39)	Y62C	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
L1td1	C	A	4: 98,626,341 (GRCm39)	N845K	possibly damaging	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Trim45	C	T	3: 100,837,257 (GRCm39)	P531L	probably damaging	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zbtb40	T	C	4: 136,722,594 (GRCm39)	D828G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	probably damaging	Het

Other mutations in Sostdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CCAAATACATTTCGGACGGCC -3'
(R):5'- GCAGATGCTTTCTAGTCAGTCC -3'

Sequencing Primer
(F):5'- ATTTCGGACGGCCAGTGC -3'
(R):5'- TAGTCAGTCCAGGTCTAGCTCAG -3'

Posted On

2016-10-26