Mutagenetix > Incidental Mutations

Incidental Mutation 'R5529:Dcstamp'

433599

Institutional Source

Beutler Lab

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

Tm7sf4, 4833414I07Rik, DC-STAMP

MMRRC Submission

043087-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R5529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39745930-39760938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39754536 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 114 (I114V)

Ref Sequence

ENSEMBL: ENSMUSP00000154362 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022913
AA Change: I114V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: I114V

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: I114V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000227792
AA Change: I114V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000228556
AA Change: I114V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000228701

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 95.7%
20x: 92.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,264,881	Y2079C	probably damaging	Het
Alg2	T	C	4: 47,472,101	R236G	probably damaging	Het
Alpl	T	A	4: 137,746,422	N323I	probably damaging	Het
Anxa3	A	G	5: 96,828,379	E172G	probably benign	Het
Atp8a2	A	G	14: 59,793,865		probably null	Het
Cadps	T	C	14: 12,454,285	K1078E	probably damaging	Het
Ces2e	G	T	8: 104,929,911	V258L	probably benign	Het
Daam2	A	G	17: 49,459,057	F1041S	probably benign	Het
Ddhd2	C	T	8: 25,739,560	R496Q	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eml6	T	A	11: 29,764,126	R1335S	probably benign	Het
F12	T	C	13: 55,422,059	N102S	probably benign	Het
Fbn1	G	A	2: 125,373,950	L712F	probably benign	Het
Fgf1	G	T	18: 38,858,604	F37L	probably damaging	Het
Fgf14	T	A	14: 123,980,455	H212L	probably damaging	Het
Gm10036	A	T	18: 15,832,801	Q3L	probably benign	Het
Hivep1	T	C	13: 42,156,650	F789L	possibly damaging	Het
Hspg2	C	A	4: 137,551,828	T3074N	probably damaging	Het
Katnb1	C	T	8: 95,097,672	R495C	probably damaging	Het
Kdm5b	C	T	1: 134,588,003	H122Y	probably damaging	Het
Ky	C	T	9: 102,542,075	S427L	probably benign	Het
Med9	T	G	11: 59,960,660	V105G	probably benign	Het
Ndufa11	T	A	17: 56,721,059	V43D	probably damaging	Het
Nlrp4b	T	A	7: 10,714,946	C359S	possibly damaging	Het
Olfr361	T	A	2: 37,084,909	I280F	possibly damaging	Het
Olfr558	A	T	7: 102,709,693	K145*	probably null	Het
Paxbp1	T	A	16: 91,030,513	Y478F	possibly damaging	Het
Pole	G	A	5: 110,332,466	E92K	probably benign	Het
Prom1	G	T	5: 44,026,768	L449M	probably damaging	Het
Psg28	G	A	7: 18,430,448	T113I	probably benign	Het
Reln	A	C	5: 21,932,715	V2493G	possibly damaging	Het
Rp1	C	T	1: 4,345,832	V1686I	probably benign	Het
Setbp1	T	C	18: 79,086,652	I122V	probably damaging	Het
Setd5	T	C	6: 113,121,568	Y721H	probably damaging	Het
Shroom1	T	C	11: 53,463,922	F223S	probably damaging	Het
Son	T	A	16: 91,655,466	L367Q	probably damaging	Het
Spred2	G	T	11: 20,021,301	D363Y	probably damaging	Het
Tbc1d8	T	G	1: 39,372,755	Y1000S	probably benign	Het
Tdp2	A	T	13: 24,838,236	K213*	probably null	Het
Tmem89	T	C	9: 108,915,477	I146T	probably damaging	Het
Vhl	T	C	6: 113,629,463	V147A	probably benign	Het
Vmn2r23	C	T	6: 123,713,451	L429F	probably benign	Het
Vrk2	T	C	11: 26,499,036	D186G	probably damaging	Het
Wisp2	T	C	2: 163,825,359		probably null	Het
Zbtb40	A	G	4: 136,983,163	F1222L	possibly damaging	Het
Zfp266	A	G	9: 20,506,734	S7P	probably damaging	Het
Zfp472	T	A	17: 32,978,433	I494K	possibly damaging	Het
Zfp655	A	G	5: 145,244,736	E468G	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
R1186:Dcstamp	UTSW	15	39754629	unclassified	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
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'- TGCAGCCTTTTACTGGATCC -3'
(R):5'- TCATTCATATGAGCCTCCAGGG -3'

Sequencing Primer
(F):5'- TACTGGATCCTGCCACCCG -3'
(R):5'- AGAGAGACCACCAGAGTCTG -3'

Posted On

2016-10-06