Mutagenetix > Incidental Mutation

Incidental Mutation 'R7171:Ocstamp'

558245

Institutional Source

Beutler Lab

Gene Symbol

Ocstamp

Ensembl Gene

ENSMUSG00000027670

Gene Name

osteoclast stimulatory transmembrane protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7171 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165393760-165400405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 165398161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 35 (K35I)

Ref Sequence

ENSEMBL: ENSMUSP00000029213 (fasta)

Gene Model

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

AlphaFold

Q9D611

Predicted Effect

probably benign
Transcript: ENSMUST00000029213
AA Change: K35I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029213
Gene: ENSMUSG00000027670
AA Change: K35I

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	T	C	2: 154,612,977	N154S	unknown	Het
9530053A07Rik	T	A	7: 28,154,519	L1636*	probably null	Het
Ank3	C	T	10: 69,992,481	H2327Y		Het
Ano6	A	G	15: 95,920,291	Y305C	probably damaging	Het
Apc2	A	G	10: 80,315,336	T2075A	possibly damaging	Het
Arl6	A	G	16: 59,623,092	V93A	possibly damaging	Het
Bcas3	T	C	11: 85,583,937	S790P	probably damaging	Het
Bcl9l	C	A	9: 44,505,151	H211N	probably benign	Het
Bptf	G	T	11: 107,131,407	D172E	unknown	Het
Card9	T	G	2: 26,359,484	I22L	possibly damaging	Het
Catsperg1	C	A	7: 29,185,212	G933V	probably damaging	Het
Catsperg2	T	A	7: 29,705,325	H771L	possibly damaging	Het
Ccdc66	T	C	14: 27,493,272	N281S	possibly damaging	Het
Cfap54	A	T	10: 92,776,210	L3162H	probably damaging	Het
Clca4a	A	G	3: 144,958,173	L503P	probably benign	Het
Cpn1	T	C	19: 43,974,031	N160D	probably damaging	Het
Ctsh	T	A	9: 90,067,101	I206K	probably benign	Het
Cyb561d1	G	A	3: 108,199,363	T180M	probably damaging	Het
Dapk1	A	T	13: 60,761,785	D1404V	probably damaging	Het
Dip2c	G	T	13: 9,506,648	R76L	probably benign	Het
Dnah7c	T	C	1: 46,680,738	I2783T	probably damaging	Het
E130308A19Rik	T	C	4: 59,690,333	Y56H	probably damaging	Het
Efemp2	G	T	19: 5,480,257	A310S	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Faap24	G	A	7: 35,392,854	Q213*	probably null	Het
Fam181b	G	A	7: 93,080,735	G239S	possibly damaging	Het
Fancm	T	C	12: 65,101,620	W670R	probably damaging	Het
Fmnl1	T	C	11: 103,190,398	Y357H	probably damaging	Het
Fryl	A	T	5: 73,122,310	V215E	probably damaging	Het
Fscn2	C	A	11: 120,362,509	N267K	probably damaging	Het
Fsip2	T	A	2: 82,986,227	Y4101*	probably null	Het
Gcn1l1	G	A	5: 115,590,293	V738I	probably benign	Het
Gdf9	C	T	11: 53,437,539	R441C	probably damaging	Het
Gipc3	C	T	10: 81,341,621	G79E	probably damaging	Het
Gzmf	T	A	14: 56,205,934	I196L	probably benign	Het
Hectd1	A	T	12: 51,759,297	V1852E	probably damaging	Het
Hip1r	A	T	5: 123,995,944	Q256L	probably benign	Het
Hmgxb4	T	C	8: 75,020,262	S405P	probably damaging	Het
Il9r	T	A	11: 32,192,671	H294L	probably benign	Het
Kif12	G	A	4: 63,168,694	T331I	probably damaging	Het
Krtap8-1	A	T	16: 89,487,906	M1K	probably null	Het
Lamc2	A	T	1: 153,139,749	C613S	probably damaging	Het
Lgr4	T	A	2: 110,000,969	N314K	probably benign	Het
Lpcat2	T	C	8: 92,909,266	I432T	probably benign	Het
Mfhas1	T	C	8: 35,588,992	V207A	probably benign	Het
Msh3	T	G	13: 92,349,298	T173P	probably benign	Het
Mup15	T	A	4: 61,438,268	M87L	probably benign	Het
N4bp2	T	C	5: 65,808,022	V1138A	probably benign	Het
Noc2l	T	C	4: 156,241,722	V422A	probably benign	Het
Notch3	C	T	17: 32,158,962	G74D	probably damaging	Het
Olfr360	T	C	2: 37,068,388	F28L	possibly damaging	Het
Olfr459	T	G	6: 41,772,027	T91P	probably benign	Het
Olfr482	A	G	7: 108,095,135	V145A	probably benign	Het
Olfr692	A	G	7: 105,368,761	H145R	probably benign	Het
Plekhh2	T	A	17: 84,521,788	V29D	probably damaging	Het
Pof1b	A	G	X: 112,644,345	I544T	probably benign	Het
Rad54l2	C	T	9: 106,713,478	R483H	probably damaging	Het
Rapgef6	T	A	11: 54,676,363	D1128E	possibly damaging	Het
Rhbdl2	T	A	4: 123,814,256	I86N	possibly damaging	Het
Rims1	C	A	1: 22,428,489	R68L		Het
Rnf157	A	G	11: 116,362,373	F70L	possibly damaging	Het
Rtp3	C	T	9: 110,985,941	C452Y	unknown	Het
S100a14	A	T	3: 90,527,762	K27*	probably null	Het
Scai	C	T	2: 39,106,936	G282D	possibly damaging	Het
Sclt1	A	T	3: 41,717,760	I132N	probably benign	Het
Serpinf1	T	A	11: 75,417,985	Q2L	possibly damaging	Het
Skor2	T	A	18: 76,860,986	V801E	probably benign	Het
Slc16a10	C	G	10: 40,037,259	E484D	probably benign	Het
Slc1a5	T	A	7: 16,797,538	D489E	probably damaging	Het
Slx4	C	T	16: 3,990,786	R430H	probably benign	Het
Teddm1b	A	T	1: 153,874,933	I163F	probably damaging	Het
Tmem171	A	T	13: 98,692,236	C135*	probably null	Het
Tmem82	C	T	4: 141,614,973	R306H	possibly damaging	Het
Tmem94	T	A	11: 115,790,955		probably null	Het
Trpm2	A	C	10: 77,924,014	L1096R	probably damaging	Het
Trrap	T	A	5: 144,794,049	L780Q	probably damaging	Het
Txlnb	A	G	10: 17,842,984	D521G	probably benign	Het
Usp7	T	C	16: 8,716,526	D59G	probably benign	Het
Vcan	G	A	13: 89,725,591	T48I	probably damaging	Het
Vmn1r45	A	G	6: 89,933,334	L218P	probably damaging	Het
Wdr25	A	T	12: 109,024,996	T370S	probably damaging	Het

Other mutations in Ocstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02109:Ocstamp	APN	2	165397336	missense	possibly damaging	0.65
IGL02207:Ocstamp	APN	2	165397663	missense	possibly damaging	0.66
IGL02863:Ocstamp	APN	2	165397508	missense	probably damaging	1.00
R0309:Ocstamp	UTSW	2	165395992	missense	possibly damaging	0.75
R0402:Ocstamp	UTSW	2	165396264	missense	possibly damaging	0.55
R0590:Ocstamp	UTSW	2	165397751	missense	probably damaging	0.98
R0624:Ocstamp	UTSW	2	165397852	missense	probably damaging	0.97
R1385:Ocstamp	UTSW	2	165396039	missense	probably benign	0.00
R1657:Ocstamp	UTSW	2	165397516	missense	probably damaging	0.99
R1696:Ocstamp	UTSW	2	165396174	missense	probably damaging	1.00
R4371:Ocstamp	UTSW	2	165397313	missense	possibly damaging	0.66
R4746:Ocstamp	UTSW	2	165396288	missense	probably benign	0.40
R4815:Ocstamp	UTSW	2	165398182	missense	probably benign	0.01
R5979:Ocstamp	UTSW	2	165397547	missense	probably damaging	1.00
R6821:Ocstamp	UTSW	2	165397922	missense	probably benign	0.00
R7084:Ocstamp	UTSW	2	165398037	nonsense	probably null
R7313:Ocstamp	UTSW	2	165397309	missense	probably damaging	1.00
R8162:Ocstamp	UTSW	2	165397867	missense	probably damaging	0.99
R9138:Ocstamp	UTSW	2	165395944	missense	probably benign	0.07
R9279:Ocstamp	UTSW	2	165395848	makesense	probably null
Z1088:Ocstamp	UTSW	2	165395918	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTGAGCACAAATAGGCAGCG -3'
(R):5'- ATCTGGAAAGTGTACGGGTTCC -3'

Sequencing Primer
(F):5'- GCCCAGGCTTAGGAAGAC -3'
(R):5'- TACAGGTGGAAGTTCTGG -3'

Posted On

2019-06-26