Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Sostdc1'

237376

Institutional Source

Beutler Lab

Gene Symbol

Sostdc1

Ensembl Gene

ENSMUSG00000036169

Gene Name

sclerostin domain containing 1

Synonyms

ectodin, Sostl, Wise, USAG-1

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.538) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36364168-36368451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36367295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 157 (I157S)

Ref Sequence

ENSEMBL: ENSMUSP00000040230 (fasta)

Gene Model

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

AlphaFold

Q9CQN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000041407
AA Change: I157S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040230
Gene: ENSMUSG00000036169
AA Change: I157S

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	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
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

Predicted Primers

PCR Primer
(F):5'- AATACATTTCGGACGGCCAG -3'
(R):5'- GATGCTTTCTAGTCAGTCCAGG -3'

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

Posted On

2014-10-02