Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Ocstamp'

537607

Institutional Source

Beutler Lab

Gene Symbol

Ocstamp

Ensembl Gene

ENSMUSG00000027670

Gene Name

osteoclast stimulatory transmembrane protein

Synonyms

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165393760-165400405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165397922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 115 (S115T)

Ref Sequence

ENSEMBL: ENSMUSP00000029213 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029213]

AlphaFold

Q9D611

Predicted Effect

probably benign
Transcript: ENSMUST00000029213
AA Change: S115T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: S115T

Domain	Start	End	E-Value	Type
transmembrane domain	52	71	N/A	INTRINSIC
transmembrane domain	86	108	N/A	INTRINSIC
transmembrane domain	121	140	N/A	INTRINSIC
transmembrane domain	222	244	N/A	INTRINSIC
Pfam:DC_STAMP	253	445	1.5e-35	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective osteoclast fusion but normal skeletal paramaters. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836 (GRCm38)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048 (GRCm38)	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626 (GRCm38)	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980 (GRCm38)	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256 (GRCm38)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388 (GRCm38)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848 (GRCm38)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173 (GRCm38)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248 (GRCm38)	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986 (GRCm38)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335 (GRCm38)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045 (GRCm38)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702 (GRCm38)		probably null	Het
D630003M21Rik	A	C	2: 158,204,774 (GRCm38)	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691 (GRCm38)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060 (GRCm38)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655 (GRCm38)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945 (GRCm38)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083 (GRCm38)	I96V	probably benign	Het
Gars	A	G	6: 55,079,338 (GRCm38)	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770 (GRCm38)	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304 (GRCm38)	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036 (GRCm38)	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008 (GRCm38)	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355 (GRCm38)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134 (GRCm38)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522 (GRCm38)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493 (GRCm38)	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458 (GRCm38)	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467 (GRCm38)	P47S	probably benign	Het
Map10	A	G	8: 125,670,399 (GRCm38)	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671 (GRCm38)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407 (GRCm38)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409 (GRCm38)	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475 (GRCm38)	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970 (GRCm38)	Q343*	probably null	Het
Olfr632	A	T	7: 103,937,586 (GRCm38)	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847 (GRCm38)		probably null	Het
Pcdhb20	A	T	18: 37,506,122 (GRCm38)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647 (GRCm38)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444 (GRCm38)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606 (GRCm38)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639 (GRCm38)	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777 (GRCm38)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964 (GRCm38)		probably benign	Het
Rspry1	C	T	8: 94,635,431 (GRCm38)	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770 (GRCm38)	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097 (GRCm38)	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920 (GRCm38)	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787 (GRCm38)	V438A	probably benign	Het
Spast	A	G	17: 74,351,962 (GRCm38)	E108G	probably benign	Het
Speg	A	G	1: 75,417,903 (GRCm38)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490 (GRCm38)		probably null	Het
Tgfbi	T	C	13: 56,626,137 (GRCm38)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892 (GRCm38)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472 (GRCm38)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644 (GRCm38)	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915 (GRCm38)	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491 (GRCm38)	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475 (GRCm38)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659 (GRCm38)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465 (GRCm38)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267 (GRCm38)	F493I	probably damaging	Het

Other mutations in Ocstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02109:Ocstamp	APN	2	165,397,336 (GRCm38)	missense	possibly damaging	0.65
IGL02207:Ocstamp	APN	2	165,397,663 (GRCm38)	missense	possibly damaging	0.66
IGL02863:Ocstamp	APN	2	165,397,508 (GRCm38)	missense	probably damaging	1.00
R0309:Ocstamp	UTSW	2	165,395,992 (GRCm38)	missense	possibly damaging	0.75
R0402:Ocstamp	UTSW	2	165,396,264 (GRCm38)	missense	possibly damaging	0.55
R0590:Ocstamp	UTSW	2	165,397,751 (GRCm38)	missense	probably damaging	0.98
R0624:Ocstamp	UTSW	2	165,397,852 (GRCm38)	missense	probably damaging	0.97
R1385:Ocstamp	UTSW	2	165,396,039 (GRCm38)	missense	probably benign	0.00
R1657:Ocstamp	UTSW	2	165,397,516 (GRCm38)	missense	probably damaging	0.99
R1696:Ocstamp	UTSW	2	165,396,174 (GRCm38)	missense	probably damaging	1.00
R4371:Ocstamp	UTSW	2	165,397,313 (GRCm38)	missense	possibly damaging	0.66
R4746:Ocstamp	UTSW	2	165,396,288 (GRCm38)	missense	probably benign	0.40
R4815:Ocstamp	UTSW	2	165,398,182 (GRCm38)	missense	probably benign	0.01
R5979:Ocstamp	UTSW	2	165,397,547 (GRCm38)	missense	probably damaging	1.00
R7084:Ocstamp	UTSW	2	165,398,037 (GRCm38)	nonsense	probably null
R7171:Ocstamp	UTSW	2	165,398,161 (GRCm38)	missense	probably benign
R7313:Ocstamp	UTSW	2	165,397,309 (GRCm38)	missense	probably damaging	1.00
R8162:Ocstamp	UTSW	2	165,397,867 (GRCm38)	missense	probably damaging	0.99
R9138:Ocstamp	UTSW	2	165,395,944 (GRCm38)	missense	probably benign	0.07
R9279:Ocstamp	UTSW	2	165,395,848 (GRCm38)	makesense	probably null
Z1088:Ocstamp	UTSW	2	165,395,918 (GRCm38)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCTCGACCTCAAATGTCAGG -3'
(R):5'- TTGGCCAGTCTTATCGCAGG -3'

Sequencing Primer
(F):5'- ACCTCAAATGTCAGGCTGCG -3'
(R):5'- AGTCTTATCGCAGGCCTGG -3'

Posted On

2018-10-18