Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02607:Dcstamp'

300324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

Tm7sf4, 4833414I07Rik, DC-STAMP

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

IGL02607

Quality Score

Status

Chromosome

Chromosomal Location

39745930-39760938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39754584 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 130 (R130G)

Ref Sequence

ENSEMBL: ENSMUSP00000153957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022913] [ENSMUST00000227368] [ENSMUST00000227792] [ENSMUST00000228556] [ENSMUST00000228701]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022913
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: R130G

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
transmembrane domain	58	75	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC
transmembrane domain	214	236	N/A	INTRINSIC
Pfam:DC_STAMP	242	421	1e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227368
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227792
AA Change: R130G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228556
AA Change: R130G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000228701

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Targeted disruption of this gene causes complete loss of osteoclast and macrophage cell fusion and leads to reduced bone-resorbing activity and mild osteopetrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	A	16: 90,929,947	T98M	probably damaging	Het
Abca17	C	T	17: 24,327,705	W307*	probably null	Het
Cit	A	G	5: 115,859,209	I84V	probably benign	Het
Cltc	T	C	11: 86,706,714	D1132G	probably benign	Het
Cobll1	A	T	2: 65,151,085	S54T	probably damaging	Het
Dennd4a	A	G	9: 64,862,327	M439V	probably damaging	Het
Dnajc15	T	A	14: 77,840,216	I110F	probably damaging	Het
Dock1	T	C	7: 134,851,513	F824L	probably benign	Het
Eml2	A	G	7: 19,206,111	H617R	probably damaging	Het
Fgd6	A	T	10: 94,044,448	Q388L	possibly damaging	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Fmnl3	A	T	15: 99,324,772	L431Q	probably damaging	Het
Gng8	T	C	7: 16,894,934		probably benign	Het
Hmcn1	T	A	1: 150,744,995	I1155F	possibly damaging	Het
Muc4	G	T	16: 32,775,819	C3135F	possibly damaging	Het
Mycbp2	C	T	14: 103,285,273	G685D	probably damaging	Het
Olfr1389	T	C	11: 49,430,512	F12S	probably damaging	Het
Pcdhb8	A	T	18: 37,357,581	I771F	probably benign	Het
Pkn2	A	G	3: 142,794,101		probably null	Het
Rrn3	G	T	16: 13,806,563	V420L	possibly damaging	Het
Samm50	A	T	15: 84,207,838	Y338F	probably benign	Het
Slc2a7	C	T	4: 150,154,705	T129I	probably benign	Het
Tbc1d8	T	C	1: 39,379,511	I806V	probably benign	Het
Tex2	T	C	11: 106,546,747	E699G	unknown	Het
Vmn2r85	T	C	10: 130,426,421	K150E	possibly damaging	Het

Other mutations in Dcstamp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Dcstamp	APN	15	39754416	missense	probably benign	0.05
IGL01963:Dcstamp	APN	15	39760359	missense	possibly damaging	0.82
IGL02132:Dcstamp	APN	15	39754532	missense	probably damaging	0.97
IGL02139:Dcstamp	APN	15	39754458	missense	probably damaging	1.00
IGL03003:Dcstamp	APN	15	39754510	missense	possibly damaging	0.64
IGL03061:Dcstamp	APN	15	39760397	missense	possibly damaging	0.81
IGL03191:Dcstamp	APN	15	39754224	missense	probably benign	0.00
R1144:Dcstamp	UTSW	15	39760368	missense	possibly damaging	0.94
R1186:Dcstamp	UTSW	15	39754629	splice site	probably null
R1663:Dcstamp	UTSW	15	39754944	nonsense	probably null
R2117:Dcstamp	UTSW	15	39755175	nonsense	probably null
R2202:Dcstamp	UTSW	15	39754312	missense	probably damaging	0.99
R4484:Dcstamp	UTSW	15	39754224	missense	probably benign	0.00
R4642:Dcstamp	UTSW	15	39754722	missense	probably benign	0.01
R5384:Dcstamp	UTSW	15	39759319	missense	probably damaging	0.99
R5529:Dcstamp	UTSW	15	39754536	missense	probably benign	0.04
R5558:Dcstamp	UTSW	15	39759540	missense	probably damaging	1.00
R5562:Dcstamp	UTSW	15	39754402	missense	possibly damaging	0.88
R6261:Dcstamp	UTSW	15	39754735	missense	possibly damaging	0.65
R6299:Dcstamp	UTSW	15	39755203	missense	probably damaging	1.00
R6377:Dcstamp	UTSW	15	39754921	missense	probably benign	0.01
R6566:Dcstamp	UTSW	15	39754336	missense	possibly damaging	0.54
R6596:Dcstamp	UTSW	15	39754209	missense	possibly damaging	0.95
R6869:Dcstamp	UTSW	15	39754458	missense	probably damaging	1.00
R7030:Dcstamp	UTSW	15	39759533	missense	probably damaging	0.96
R7945:Dcstamp	UTSW	15	39760401	makesense	probably null
R8178:Dcstamp	UTSW	15	39755026	missense	probably damaging	1.00
R8821:Dcstamp	UTSW	15	39754789	missense	probably benign	0.14
Z1177:Dcstamp	UTSW	15	39759596	missense	probably benign	0.03

Posted On

2015-04-16