Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02132:Dcstamp'

281040

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 non essential (E-score: 0.491) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

39745930-39760938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39754532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 112 (E112D)

Ref Sequence

ENSEMBL: ENSMUSP00000153957 (fasta)

Gene Model

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

AlphaFold

Q7TNJ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022913
AA Change: E112D

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

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: E112D

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: E112D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227792
AA Change: E112D

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228556
AA Change: E112D

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Gen1	A	G	12: 11,241,866	S706P	probably benign	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,453,470	T34I	probably benign	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Psd2	T	G	18: 36,004,756		probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Trps1	T	A	15: 50,822,278	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,330,347	S1027P	probably benign	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	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
IGL02139:Dcstamp	APN	15	39754458	missense	probably damaging	1.00
IGL02607:Dcstamp	APN	15	39754584	missense	possibly damaging	0.94
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
R9473:Dcstamp	UTSW	15	39754576	missense	probably damaging	1.00
Z1177:Dcstamp	UTSW	15	39759596	missense	probably benign	0.03

Posted On

2015-04-16