Mutagenetix > Incidental Mutations

Incidental Mutation 'R1831:Dcst1'

207303

Institutional Source

Beutler Lab

Gene Symbol

Dcst1

Ensembl Gene

ENSMUSG00000042672

Gene Name

DC-STAMP domain containing 1

Synonyms

MMRRC Submission

039858-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89350219-89365253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89352750 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 596 (F596L)

Ref Sequence

ENSEMBL: ENSMUSP00000065502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029676] [ENSMUST00000070820] [ENSMUST00000074582] [ENSMUST00000107446] [ENSMUST00000107448] [ENSMUST00000184651]

Predicted Effect

probably benign
Transcript: ENSMUST00000029676

SMART Domains

Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	29	158	1.2e-14	PFAM
Pfam:Reprolysin_3	208	360	1e-12	PFAM
Pfam:Reprolysin_5	212	394	1.5e-15	PFAM
Pfam:Reprolysin_4	214	410	3.1e-8	PFAM
Pfam:Reprolysin	214	416	1.6e-54	PFAM
Pfam:Reprolysin_2	257	405	9.9e-12	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	763	781	N/A	INTRINSIC
low complexity region	808	862	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070820
AA Change: F596L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: F596L

Domain	Start	End	E-Value	Type
coiled coil region	18	44	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	108	125	N/A	INTRINSIC
transmembrane domain	398	420	N/A	INTRINSIC
Pfam:DC_STAMP	431	621	1.5e-55	PFAM
Blast:RING	672	710	3e-17	BLAST
SCOP:d1ldjb_	672	710	2e-3	SMART
low complexity region	717	728	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074582

SMART Domains

Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.6e-21	PFAM
Pfam:Reprolysin_5	212	394	1.6e-15	PFAM
Pfam:Reprolysin_4	214	410	2.9e-8	PFAM
Pfam:Reprolysin	214	415	4.2e-56	PFAM
Pfam:Reprolysin_3	238	360	1.7e-14	PFAM
Pfam:Reprolysin_2	254	405	1.1e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	760	813	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098929

Predicted Effect

probably benign
Transcript: ENSMUST00000107446

SMART Domains

Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	9.9e-22	PFAM
Pfam:Reprolysin_3	209	360	5.9e-15	PFAM
Pfam:Reprolysin_5	212	394	5e-16	PFAM
Pfam:Reprolysin_4	213	410	1e-8	PFAM
Pfam:Reprolysin	214	415	1.4e-56	PFAM
Pfam:Reprolysin_2	253	405	4e-11	PFAM
low complexity region	416	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107448

SMART Domains

Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.7e-21	PFAM
Pfam:Reprolysin_5	212	394	1.6e-15	PFAM
Pfam:Reprolysin_4	214	410	3e-8	PFAM
Pfam:Reprolysin	214	415	4.4e-56	PFAM
Pfam:Reprolysin_3	238	360	1.8e-14	PFAM
Pfam:Reprolysin_2	254	405	1.2e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	783	837	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200174

Predicted Effect

probably benign
Transcript: ENSMUST00000184651

SMART Domains

Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Pep_M12B_propep	31	164	2.9e-21	PFAM
Pfam:Reprolysin_5	212	394	1.7e-15	PFAM
Pfam:Reprolysin_4	214	410	3.1e-8	PFAM
Pfam:Reprolysin	214	415	4.6e-56	PFAM
Pfam:Reprolysin_3	238	360	1.9e-14	PFAM
Pfam:Reprolysin_2	255	405	1.2e-10	PFAM
DISIN	431	507	2.28e-37	SMART
ACR	508	650	8.38e-56	SMART
EGF	657	686	7.02e-1	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	763	781	N/A	INTRINSIC
low complexity region	808	862	N/A	INTRINSIC

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a transmembrane protein. A similar gene in human has been associated with dendritic cells. [provided by RefSeq, May 2015]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,577,255	D77G	probably damaging	Het
Adam1b	A	G	5: 121,502,937	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Capn8	G	A	1: 182,611,101		probably null	Het
Carmil1	A	T	13: 24,164,879	V15E	probably benign	Het
Ccdc42	T	A	11: 68,590,979	M133K	probably benign	Het
Cd5	T	C	19: 10,719,569	D485G	probably damaging	Het
Cep104	T	A	4: 154,002,546	V842E	probably benign	Het
Cep162	T	A	9: 87,206,932	I966L	probably damaging	Het
Cklf	T	C	8: 104,251,055	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,348,253	P587S	probably benign	Het
Cyp21a1	A	T	17: 34,804,035		probably benign	Het
Cyp26a1	A	T	19: 37,700,623	L335F	probably damaging	Het
Dennd6a	T	A	14: 26,606,954	L44H	probably damaging	Het
Dnah6	G	A	6: 73,181,797	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333	T311S	probably benign	Het
Dthd1	A	G	5: 62,827,229	T426A	probably benign	Het
Dync1h1	A	G	12: 110,614,059	K118R	probably damaging	Het
Efemp1	A	T	11: 28,921,442	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,354,415	Y87N	probably damaging	Het
Ern1	A	T	11: 106,399,842		probably null	Het
Fam184a	A	T	10: 53,647,084	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,423,219	E351G	probably damaging	Het
Fmn2	A	G	1: 174,609,945	S1161G	probably benign	Het
Frem1	A	G	4: 83,020,837	S3P	possibly damaging	Het
Gm10260	A	G	13: 97,760,545	V15A	probably benign	Het
Gm281	A	G	14: 13,899,619	I101T	probably damaging	Het
Gpr3	C	T	4: 133,211,143	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,615,806	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,168,369	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Hacd2	T	C	16: 35,102,064	Y208H	probably damaging	Het
Hid1	C	T	11: 115,348,903	G734R	probably damaging	Het
Ifi207	A	G	1: 173,732,426	I160T	unknown	Het
Itga11	T	A	9: 62,782,018	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,855,343	S157P	probably damaging	Het
Lamb3	A	G	1: 193,334,879	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc66	G	A	5: 73,607,426	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,400,146	S1213N	possibly damaging	Het
Med1	T	C	11: 98,156,611		probably benign	Het
Megf6	C	T	4: 154,270,677	T1483M	probably benign	Het
Micall2	A	G	5: 139,716,753	V245A	probably benign	Het
Mipep	T	G	14: 60,872,063	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,601,478	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789	M165L	probably benign	Het
Nmbr	C	A	10: 14,766,865	T56K	probably benign	Het
Nxpe2	T	A	9: 48,326,152	M268L	probably benign	Het
Oasl2	A	G	5: 114,901,306	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,337,527	V377E	probably damaging	Het
Olfr115	G	A	17: 37,609,839	S304L	possibly damaging	Het
Olfr738	T	A	14: 50,414,201		probably null	Het
Ovgp1	A	G	3: 105,985,068	R346G	probably benign	Het
Parp14	T	A	16: 35,858,588	N337Y	possibly damaging	Het
Pask	A	C	1: 93,320,769		probably null	Het
Pax3	G	T	1: 78,132,340	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,544,034	M594K	probably benign	Het
Pms1	A	G	1: 53,207,211	F390L	probably benign	Het
Polg	G	A	7: 79,459,770	T433I	probably benign	Het
Prex1	T	C	2: 166,585,101	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,479,222	C1921*	probably null	Het
Rif1	T	A	2: 52,078,495	L230*	probably null	Het
Rnf148	A	G	6: 23,654,773	F75L	probably damaging	Het
Sclt1	A	G	3: 41,727,111	V91A	probably damaging	Het
Sirt1	T	C	10: 63,320,646	D735G	probably benign	Het
Spag5	T	A	11: 78,314,256	N622K	probably benign	Het
Sspo	T	G	6: 48,489,786	C3935W	probably damaging	Het
Strbp	A	G	2: 37,625,265	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 116,090,536	T541A	possibly damaging	Het
Thada	A	C	17: 84,231,114	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,860,294	S685T	probably benign	Het
Tldc1	T	C	8: 119,771,253	M171V	probably null	Het
Tpsb2	T	A	17: 25,366,520		probably null	Het
Trip4	C	A	9: 65,858,340	G359V	probably damaging	Het
Tsr1	T	C	11: 74,900,356	F254L	probably benign	Het
Vmn1r120	T	C	7: 21,053,631	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,307,707	Y137*	probably null	Het
Vmn2r52	T	C	7: 10,159,488	K575E	probably damaging	Het
Wdr95	A	G	5: 149,552,426	Y63C	probably damaging	Het

Other mutations in Dcst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02373:Dcst1	APN	3	89357891	missense	probably damaging	0.98
R0722:Dcst1	UTSW	3	89353805	missense	probably benign	0.04
R0782:Dcst1	UTSW	3	89357500	missense	possibly damaging	0.88
R0891:Dcst1	UTSW	3	89353277	missense	probably benign	0.16
R1434:Dcst1	UTSW	3	89352519	missense	probably damaging	1.00
R1807:Dcst1	UTSW	3	89353541	missense	probably damaging	1.00
R2129:Dcst1	UTSW	3	89357545	missense	probably damaging	0.97
R2371:Dcst1	UTSW	3	89358642	missense	possibly damaging	0.47
R4600:Dcst1	UTSW	3	89356336	missense	probably benign	0.01
R4761:Dcst1	UTSW	3	89357553	missense	possibly damaging	0.83
R4906:Dcst1	UTSW	3	89350507	missense	possibly damaging	0.85
R4974:Dcst1	UTSW	3	89357803	missense	probably benign	0.27
R5552:Dcst1	UTSW	3	89365066	missense	probably benign	0.03
R5910:Dcst1	UTSW	3	89350424	missense	possibly damaging	0.94
R5943:Dcst1	UTSW	3	89356411	splice site	probably null
R5992:Dcst1	UTSW	3	89352576	missense	probably damaging	1.00
R6630:Dcst1	UTSW	3	89364326	missense	possibly damaging	0.75
R6685:Dcst1	UTSW	3	89356873	missense	possibly damaging	0.49
R6877:Dcst1	UTSW	3	89350360	missense	probably benign	0.06
R7592:Dcst1	UTSW	3	89353292	missense	probably benign	0.06
R7805:Dcst1	UTSW	3	89352761	missense	probably damaging	1.00
R7825:Dcst1	UTSW	3	89352821	missense	possibly damaging	0.95
R8517:Dcst1	UTSW	3	89365148	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGTAGAAGAACAGAGCCCG -3'
(R):5'- AACTGGAAGTCCACCCTGTAC -3'

Sequencing Primer
(F):5'- GAACAGAGCCCGCTTCTTC -3'
(R):5'- GAAGTCCACCCTGTACCTCCAG -3'

Posted On

2014-06-23