Mutagenetix > Incidental Mutations

Incidental Mutation 'R1186:Dcstamp'

102190

Institutional Source

Beutler Lab

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

Tm7sf4, 4833414I07Rik, DC-STAMP

MMRRC Submission

039258-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39745930-39760938 bp(+) (GRCm38)

Type of Mutation

unclassified (374 bp from exon)

DNA Base Change (assembly)

A to G at 39754629 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154564 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022913
AA Change: T145A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: T145A

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

probably benign
Transcript: ENSMUST00000227368
AA Change: T145A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000227792
AA Change: T145A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228556
AA Change: T145A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably null
Transcript: ENSMUST00000228701

Meta Mutation Damage Score

0.1391

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Ddx5	T	C	11: 106,783,979		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Galnt17	G	T	5: 131,111,742	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024		probably benign	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Senp2	T	C	16: 22,011,504	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spred1	A	T	2: 117,177,697	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGGAACGCTTTGATTGCGGC -3'
(R):5'- TCTTATTCAGCGGGAGGACACAGG -3'

Sequencing Primer
(F):5'- CTTTGATTGCGGCTGGCAC -3'
(R):5'- AAGTCAACAGCTCTGTCGTG -3'

Posted On

2014-01-15