Mutagenetix > Incidental Mutation

Incidental Mutation 'R9279:Ocstamp'

703488

Institutional Source

Beutler Lab

Gene Symbol

Ocstamp

Ensembl Gene

ENSMUSG00000027670

Gene Name

osteoclast stimulatory transmembrane protein

Synonyms

4833422F24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165237370-165242314 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 165237768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 499 (*499Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029213 (fasta)

Gene Model

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

AlphaFold

Q9D611

Predicted Effect

probably null
Transcript: ENSMUST00000029213
AA Change: *499Q

SMART Domains

Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: *499Q

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: 98.6%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	A	T	4: 139,044,079 (GRCm39)	H225L	possibly damaging	Het
Arhgap32	C	A	9: 32,168,655 (GRCm39)	H879Q	probably benign	Het
Axin2	A	G	11: 108,833,128 (GRCm39)	I438V	possibly damaging	Het
Btbd18	T	A	2: 84,491,920 (GRCm39)	C34S	probably damaging	Het
Carns1	G	T	19: 4,216,256 (GRCm39)	T642N	possibly damaging	Het
Casp8	T	C	1: 58,883,542 (GRCm39)	I283T	probably benign	Het
Ccdc136	T	A	6: 29,421,982 (GRCm39)		probably benign	Het
Ccnk	C	A	12: 108,161,946 (GRCm39)	Q284K	unknown	Het
Ceacam12	T	A	7: 17,801,177 (GRCm39)	L52H	probably damaging	Het
Cit	G	A	5: 116,065,970 (GRCm39)	D540N	probably damaging	Het
Cntnap1	T	C	11: 101,072,121 (GRCm39)	V458A	probably damaging	Het
Col6a5	T	A	9: 105,758,976 (GRCm39)	I2077F	probably damaging	Het
Dnah2	T	C	11: 69,409,104 (GRCm39)	K425E	probably benign	Het
Eya2	A	G	2: 165,529,631 (GRCm39)	S125G	probably benign	Het
Gabrg1	T	G	5: 70,934,599 (GRCm39)	M260L	probably benign	Het
Greb1	T	C	12: 16,732,153 (GRCm39)	S1603G	probably damaging	Het
Isx	A	G	8: 75,600,434 (GRCm39)	T56A	probably benign	Het
Kif2b	A	T	11: 91,467,975 (GRCm39)	S103T	probably benign	Het
Krtap26-1	T	C	16: 88,444,342 (GRCm39)	H93R	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mdm4	G	A	1: 132,924,416 (GRCm39)	T236M	probably damaging	Het
Mgat5	T	A	1: 127,325,348 (GRCm39)	L405Q	probably damaging	Het
Msantd1	A	G	5: 35,080,885 (GRCm39)	I272V	probably benign	Het
Or11h6	A	G	14: 50,880,493 (GRCm39)	K252E	possibly damaging	Het
Or1e16	G	A	11: 73,279,789 (GRCm39)	P21L	probably benign	Het
Or2n1d	G	A	17: 38,646,414 (GRCm39)	R122Q	probably damaging	Het
Or4c100	A	G	2: 88,356,211 (GRCm39)	M95V	probably benign	Het
Or5b12	A	T	19: 12,897,309 (GRCm39)	Y121*	probably null	Het
Pcdh15	T	A	10: 74,461,756 (GRCm39)		probably benign	Het
Pkdrej	C	T	15: 85,700,834 (GRCm39)	G1701S	probably damaging	Het
Ppp1r9a	A	G	6: 5,113,757 (GRCm39)	T754A	probably damaging	Het
Prss8	C	A	7: 127,527,082 (GRCm39)	Q55H	probably damaging	Het
Psg20	G	T	7: 18,416,670 (GRCm39)	R149S	probably benign	Het
Ptprz1	T	G	6: 23,002,444 (GRCm39)	N1511K	probably benign	Het
Rbbp8nl	C	T	2: 179,920,894 (GRCm39)		probably null	Het
Sgk2	A	G	2: 162,854,975 (GRCm39)	D362G	probably benign	Het
Sim1	T	C	10: 50,859,796 (GRCm39)	Y553H	probably damaging	Het
Sipa1l2	T	C	8: 126,208,896 (GRCm39)	D504G	probably damaging	Het
Smad7	T	C	18: 75,502,547 (GRCm39)	V174A	possibly damaging	Het
Smarcc1	T	A	9: 109,996,792 (GRCm39)	N303K	possibly damaging	Het
Snai3	T	C	8: 123,183,038 (GRCm39)	H169R	possibly damaging	Het
Tecpr2	T	A	12: 110,895,505 (GRCm39)	S331T	possibly damaging	Het
Tenm2	G	A	11: 35,959,303 (GRCm39)	T1082I	probably benign	Het
Tle4	A	T	19: 14,429,890 (GRCm39)	I627N	probably damaging	Het
Tnxb	A	T	17: 34,898,088 (GRCm39)	N912I	possibly damaging	Het
Ube2q2l	A	G	6: 136,377,978 (GRCm39)	V284A	probably damaging	Het
Vmn1r238	A	T	18: 3,122,994 (GRCm39)	V140E	probably damaging	Het
Vmn1r65	G	A	7: 6,011,988 (GRCm39)	T82I	probably benign	Het
Vps13b	A	G	15: 35,572,290 (GRCm39)	K969R	probably damaging	Het
Zfp943	A	G	17: 22,209,832 (GRCm39)	R35G	possibly damaging	Het

Other mutations in Ocstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02109:Ocstamp	APN	2	165,239,256 (GRCm39)	missense	possibly damaging	0.65
IGL02207:Ocstamp	APN	2	165,239,583 (GRCm39)	missense	possibly damaging	0.66
IGL02863:Ocstamp	APN	2	165,239,428 (GRCm39)	missense	probably damaging	1.00
R0309:Ocstamp	UTSW	2	165,237,912 (GRCm39)	missense	possibly damaging	0.75
R0402:Ocstamp	UTSW	2	165,238,184 (GRCm39)	missense	possibly damaging	0.55
R0590:Ocstamp	UTSW	2	165,239,671 (GRCm39)	missense	probably damaging	0.98
R0624:Ocstamp	UTSW	2	165,239,772 (GRCm39)	missense	probably damaging	0.97
R1385:Ocstamp	UTSW	2	165,237,959 (GRCm39)	missense	probably benign	0.00
R1657:Ocstamp	UTSW	2	165,239,436 (GRCm39)	missense	probably damaging	0.99
R1696:Ocstamp	UTSW	2	165,238,094 (GRCm39)	missense	probably damaging	1.00
R4371:Ocstamp	UTSW	2	165,239,233 (GRCm39)	missense	possibly damaging	0.66
R4746:Ocstamp	UTSW	2	165,238,208 (GRCm39)	missense	probably benign	0.40
R4815:Ocstamp	UTSW	2	165,240,102 (GRCm39)	missense	probably benign	0.01
R5979:Ocstamp	UTSW	2	165,239,467 (GRCm39)	missense	probably damaging	1.00
R6821:Ocstamp	UTSW	2	165,239,842 (GRCm39)	missense	probably benign	0.00
R7084:Ocstamp	UTSW	2	165,239,957 (GRCm39)	nonsense	probably null
R7171:Ocstamp	UTSW	2	165,240,081 (GRCm39)	missense	probably benign
R7313:Ocstamp	UTSW	2	165,239,229 (GRCm39)	missense	probably damaging	1.00
R8162:Ocstamp	UTSW	2	165,239,787 (GRCm39)	missense	probably damaging	0.99
R9138:Ocstamp	UTSW	2	165,237,864 (GRCm39)	missense	probably benign	0.07
Z1088:Ocstamp	UTSW	2	165,237,838 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGTCTAGCGGAAAGGGACTG -3'
(R):5'- CACGACTGTCATCTACCACAGG -3'

Sequencing Primer
(F):5'- AAGGGACTGGGCGGTCTG -3'
(R):5'- ACCTTGGTGCTACAGGCCTAC -3'

Posted On

2022-03-25