Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Dcstamp'

238781

Institutional Source

Beutler Lab

Gene Symbol

Dcstamp

Ensembl Gene

ENSMUSG00000022303

Gene Name

dendrocyte expressed seven transmembrane protein

Synonyms

Tm7sf4, 4833414I07Rik, DC-STAMP

MMRRC Submission

040204-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39745930-39760938 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39754312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 39 (V39E)

Ref Sequence

ENSEMBL: ENSMUSP00000153957 (fasta)

Gene Model

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

AlphaFold

Q7TNJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022913
AA Change: V39E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022913
Gene: ENSMUSG00000022303
AA Change: V39E

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 damaging
Transcript: ENSMUST00000227368
AA Change: V39E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227792
AA Change: V39E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228556
AA Change: V39E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000228701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,898,668	V249A	possibly damaging	Het
5330417C22Rik	C	T	3: 108,475,043	G270E	probably damaging	Het
9930111J21Rik2	C	G	11: 49,019,322	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291	T386I	probably damaging	Het
Abca14	T	C	7: 120,289,541	Y1237H	probably benign	Het
Abi3bp	T	G	16: 56,613,203	L550R	probably benign	Het
Abi3bp	C	T	16: 56,650,725	R578*	probably null	Het
Adamts7	A	T	9: 90,180,676	K394N	probably damaging	Het
Ahdc1	A	G	4: 133,065,909	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,374,526	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,523,882	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,767,015	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,453,515	T11K	probably benign	Het
Calr3	A	G	8: 72,434,839	L40S	probably damaging	Het
Ccar1	A	C	10: 62,745,287	D1119E	unknown	Het
Cdan1	C	A	2: 120,720,760	C1093F	probably damaging	Het
Cdk12	T	G	11: 98,210,638	S441A	unknown	Het
Ces4a	T	A	8: 105,146,114	V333E	probably damaging	Het
Cfap61	T	C	2: 146,214,680	L1193P	probably damaging	Het
Chd2	A	T	7: 73,478,668	D856E	probably benign	Het
Chil3	T	C	3: 106,164,246	D34G	probably benign	Het
Cln3	T	A	7: 126,579,218	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,819	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,694	D976A	probably benign	Het
Dicer1	C	T	12: 104,731,038	V87M	possibly damaging	Het
Duox1	A	G	2: 122,344,713	T1331A	probably benign	Het
Fam184a	T	A	10: 53,652,434	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,688,557	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,508	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,546,962	M463K	probably benign	Het
Garem2	A	G	5: 30,114,764	D408G	probably benign	Het
Gm12169	A	G	11: 46,528,567	N70S	probably benign	Het
Gm6370	T	A	5: 146,493,729	D241E	probably benign	Het
Gpc3	T	A	X: 52,397,206	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,511,542	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,291,183	I134N	probably damaging	Het
Il15ra	T	A	2: 11,718,344		probably null	Het
Ints8	A	T	4: 11,225,712	M615K	possibly damaging	Het
Irak1	G	A	X: 74,017,138	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,239,463		probably null	Het
Knstrn	T	A	2: 118,830,975		probably null	Het
Letm1	C	A	5: 33,769,486	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,722,911	P95L	probably damaging	Het
Map2k2	T	C	10: 81,119,379	S14P	probably damaging	Het
Me3	T	C	7: 89,850,381	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 126,391,295	E178G	probably benign	Het
Nop56	T	A	2: 130,277,568	I51N	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nudt5	A	T	2: 5,855,983	I22F	possibly damaging	Het
Olfr1198	C	G	2: 88,746,609	G93A	probably benign	Het
Olfr164	C	T	16: 19,286,297	A149T	probably benign	Het
Olfr714	T	A	7: 107,074,316	W163R	probably damaging	Het
Pbrm1	A	G	14: 31,032,449	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,352,044	N231K	probably benign	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pid1	T	A	1: 84,038,438	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,537,360	S1091P	probably benign	Het
Plcb4	T	C	2: 136,002,594	I144T	probably benign	Het
Plxnd1	T	C	6: 115,962,764	N1418S	probably benign	Het
Pmm1	T	C	15: 81,956,400	T82A	probably benign	Het
Prrc2b	C	A	2: 32,223,464	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,650	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,612,800		probably null	Het
Rbm8a2	T	C	1: 175,978,854	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,690,504	S336P	probably damaging	Het
Serpina11	G	T	12: 103,985,974	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,693,396	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,436,762	T159I	probably benign	Het
Slc19a1	T	C	10: 77,041,924	C98R	possibly damaging	Het
Slc22a20	A	T	19: 5,971,525	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,731,621	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843	L531P	possibly damaging	Het
Tex45	A	T	8: 3,479,028	D201V	probably benign	Het
Tln1	C	T	4: 43,553,083		probably null	Het
Tmem39b	A	C	4: 129,693,923	S32A	probably benign	Het
Tmx3	T	C	18: 90,527,913	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,190,638	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,199,042		probably null	Het
Tssk2	A	G	16: 17,898,739	D2G	possibly damaging	Het
Ttn	T	C	2: 76,771,641	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,389,074	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,926,619	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,601,439	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,864,170	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,356,685	H32L	probably benign	Het
Wsb1	T	C	11: 79,240,386	I395V	probably benign	Het
Zfat	T	C	15: 68,179,860	D695G	probably benign	Het
Zfp358	G	T	8: 3,496,995	V526F	possibly damaging	Het
Zfp651	A	G	9: 121,762,637	T8A	possibly damaging	Het
Zmat1	A	G	X: 134,973,112	L476P	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCATTTCTTGGTGGGAGTCC -3'
(R):5'- CAAAGCGTTCCTACCTTCACG -3'

Sequencing Primer
(F):5'- TGGAACTCACCTTGTAGACCAGG -3'
(R):5'- GTTCCTACCTTCACGGAGGC -3'

Posted On

2014-10-02