Mutagenetix > Incidental Mutation

Incidental Mutation 'R7592:Dcst1'

587436

Institutional Source

Beutler Lab

Gene Symbol

Dcst1

Ensembl Gene

ENSMUSG00000042672

Gene Name

DC-STAMP domain containing 1

Synonyms

A330106H01Rik

MMRRC Submission

045639-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7592 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89257526-89272560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89260599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 555 (S555I)

Ref Sequence

ENSEMBL: ENSMUSP00000065502 (fasta)

Gene Model

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

AlphaFold

Q059Y8

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 benign
Transcript: ENSMUST00000070820
AA Change: S555I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: S555I

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

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,138 (GRCm39)	T204A	unknown	Het
Abca12	T	C	1: 71,327,836 (GRCm39)	T1415A	probably benign	Het
Adamtsl3	A	G	7: 81,986,459 (GRCm39)	T24A	probably benign	Het
Ankrd13b	A	C	11: 77,367,327 (GRCm39)	V194G	probably benign	Het
Aurkc	C	T	7: 7,003,006 (GRCm39)	T167I	probably benign	Het
Capn1	T	C	19: 6,064,469 (GRCm39)	Y10C	probably benign	Het
Ccnk	T	C	12: 108,152,724 (GRCm39)	S14P	possibly damaging	Het
Cebpe	T	A	14: 54,949,298 (GRCm39)	I40F	probably damaging	Het
Cers3	G	A	7: 66,439,377 (GRCm39)	C296Y	probably damaging	Het
Cog8	A	T	8: 107,776,861 (GRCm39)	C505S	possibly damaging	Het
Col4a3	A	G	1: 82,626,338 (GRCm39)	I92V	unknown	Het
Col5a3	T	A	9: 20,708,689 (GRCm39)	H645L	unknown	Het
Crispld1	A	T	1: 17,798,990 (GRCm39)	E37V	possibly damaging	Het
Csmd2	A	G	4: 128,357,591 (GRCm39)	Y1684C		Het
Cstdc5	A	T	16: 36,187,862 (GRCm39)	M1K	probably null	Het
Drc1	A	G	5: 30,499,060 (GRCm39)	S70G	possibly damaging	Het
Elavl2	A	T	4: 91,199,808 (GRCm39)		probably null	Het
Emc1	A	G	4: 139,087,877 (GRCm39)	H300R	probably benign	Het
Gcnt4	G	A	13: 97,083,669 (GRCm39)	V322I	probably benign	Het
Gsg1l2	A	G	11: 67,665,584 (GRCm39)	N51D	probably benign	Het
Gucy2e	A	T	11: 69,114,150 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,136,036 (GRCm39)	E579G	probably benign	Het
Hoxa4	T	C	6: 52,168,520 (GRCm39)	H50R	unknown	Het
Htr7	T	C	19: 36,034,292 (GRCm39)	Y121C	probably damaging	Het
Ift43	G	A	12: 86,207,964 (GRCm39)	D111N	probably damaging	Het
Itih3	A	G	14: 30,630,722 (GRCm39)	V863A	probably damaging	Het
Macf1	T	C	4: 123,304,686 (GRCm39)		probably benign	Het
Mgat3	A	G	15: 80,095,193 (GRCm39)	K7E	probably damaging	Het
Ndst4	T	A	3: 125,364,436 (GRCm39)	V371E	probably damaging	Het
Npr1	T	G	3: 90,372,323 (GRCm39)	D163A	possibly damaging	Het
Nudt12	T	C	17: 59,313,589 (GRCm39)	I330V	probably benign	Het
Or2a20	T	G	6: 43,194,179 (GRCm39)	C111G	probably damaging	Het
Or4k2	T	A	14: 50,424,020 (GRCm39)	Y219F	probably damaging	Het
Or51l4	C	A	7: 103,404,279 (GRCm39)	C171F	probably damaging	Het
Or7g32	C	A	9: 19,389,128 (GRCm39)	M139I	possibly damaging	Het
Poc1a	A	T	9: 106,226,967 (GRCm39)	R402S	probably benign	Het
Prex2	G	T	1: 11,193,437 (GRCm39)	V470L	probably damaging	Het
Prom1	T	C	5: 44,220,469 (GRCm39)	E93G	probably damaging	Het
Psma1	A	T	7: 113,868,961 (GRCm39)	M180K	probably benign	Het
Pudp	A	T	18: 50,701,053 (GRCm39)	F227I	probably damaging	Het
Rab15	T	A	12: 76,851,223 (GRCm39)	Q60L	probably damaging	Het
Scaf8	T	C	17: 3,221,497 (GRCm39)		probably null	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Sez6	T	C	11: 77,868,876 (GRCm39)	S976P	probably damaging	Het
Slc2a12	A	G	10: 22,540,802 (GRCm39)	Y219C	probably damaging	Het
Slc38a9	T	A	13: 112,831,889 (GRCm39)	I213K	probably damaging	Het
Stil	T	A	4: 114,881,005 (GRCm39)	D516E	probably benign	Het
Supt20	A	G	3: 54,614,543 (GRCm39)	D184G	probably damaging	Het
Tars3	G	A	7: 65,308,619 (GRCm39)	S263N	probably benign	Het
Tmem181a	C	A	17: 6,339,295 (GRCm39)	T68K	probably benign	Het
Trav21-dv12	G	T	14: 54,113,997 (GRCm39)	C39F	probably damaging	Het
Tshz1	T	C	18: 84,032,173 (GRCm39)	E745G	probably damaging	Het
Ugt1a8	T	A	1: 88,015,904 (GRCm39)	F106I	probably benign	Het
Vmn1r39	C	A	6: 66,781,428 (GRCm39)	V297L	probably benign	Het
Vmn2r101	G	A	17: 19,811,443 (GRCm39)		probably null	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het

Other mutations in Dcst1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02373:Dcst1	APN	3	89,265,198 (GRCm39)	missense	probably damaging	0.98
R0722:Dcst1	UTSW	3	89,261,112 (GRCm39)	missense	probably benign	0.04
R0782:Dcst1	UTSW	3	89,264,807 (GRCm39)	missense	possibly damaging	0.88
R0891:Dcst1	UTSW	3	89,260,584 (GRCm39)	missense	probably benign	0.16
R1434:Dcst1	UTSW	3	89,259,826 (GRCm39)	missense	probably damaging	1.00
R1807:Dcst1	UTSW	3	89,260,848 (GRCm39)	missense	probably damaging	1.00
R1831:Dcst1	UTSW	3	89,260,057 (GRCm39)	missense	probably damaging	0.98
R2129:Dcst1	UTSW	3	89,264,852 (GRCm39)	missense	probably damaging	0.97
R2371:Dcst1	UTSW	3	89,265,949 (GRCm39)	missense	possibly damaging	0.47
R4600:Dcst1	UTSW	3	89,263,643 (GRCm39)	missense	probably benign	0.01
R4761:Dcst1	UTSW	3	89,264,860 (GRCm39)	missense	possibly damaging	0.83
R4906:Dcst1	UTSW	3	89,257,814 (GRCm39)	missense	possibly damaging	0.85
R4974:Dcst1	UTSW	3	89,265,110 (GRCm39)	missense	probably benign	0.27
R5552:Dcst1	UTSW	3	89,272,373 (GRCm39)	missense	probably benign	0.03
R5910:Dcst1	UTSW	3	89,257,731 (GRCm39)	missense	possibly damaging	0.94
R5943:Dcst1	UTSW	3	89,263,718 (GRCm39)	splice site	probably null
R5992:Dcst1	UTSW	3	89,259,883 (GRCm39)	missense	probably damaging	1.00
R6630:Dcst1	UTSW	3	89,271,633 (GRCm39)	missense	possibly damaging	0.75
R6685:Dcst1	UTSW	3	89,264,180 (GRCm39)	missense	possibly damaging	0.49
R6877:Dcst1	UTSW	3	89,257,667 (GRCm39)	missense	probably benign	0.06
R7805:Dcst1	UTSW	3	89,260,068 (GRCm39)	missense	probably damaging	1.00
R7825:Dcst1	UTSW	3	89,260,128 (GRCm39)	missense	possibly damaging	0.95
R8517:Dcst1	UTSW	3	89,272,455 (GRCm39)	missense	probably benign	0.01
R9151:Dcst1	UTSW	3	89,271,558 (GRCm39)	missense	probably benign	0.10
R9218:Dcst1	UTSW	3	89,272,412 (GRCm39)	missense	probably benign	0.13
R9599:Dcst1	UTSW	3	89,265,075 (GRCm39)	nonsense	probably null
R9608:Dcst1	UTSW	3	89,266,442 (GRCm39)	missense	possibly damaging	0.91
R9750:Dcst1	UTSW	3	89,261,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTCAAAGCTCTGGTAACC -3'
(R):5'- TTCCTTTCGAAGTGAGCCTG -3'

Sequencing Primer
(F):5'- GGTAACCATTTTTCTCTGATCCAAG -3'
(R):5'- AAGTGAGCCTGGGCCCAG -3'

Posted On

2019-10-24