Mutagenetix > Incidental Mutation

Incidental Mutation 'R8517:Dcst1'

656191

Institutional Source

Beutler Lab

Gene Symbol

Dcst1

Ensembl Gene

ENSMUSG00000042672

Gene Name

DC-STAMP domain containing 1

Synonyms

A330106H01Rik

MMRRC Submission

067849-MU

Accession Numbers

Essential gene?

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

Stock #

R8517 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89257526-89272560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89272455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 3 (F3L)

Ref Sequence

ENSEMBL: ENSMUSP00000065502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070820] [ENSMUST00000208216]

AlphaFold

Q059Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000070820
AA Change: F3L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: F3L

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: ENSMUST00000208216

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,206 (GRCm39)	D131E	probably damaging	Het
Abca17	C	A	17: 24,536,207 (GRCm39)	V487F	probably benign	Het
Anapc5	T	C	5: 122,959,093 (GRCm39)	S41G	probably benign	Het
Aoc1	C	T	6: 48,883,644 (GRCm39)	Q507*	probably null	Het
Ccdc171	G	A	4: 83,661,298 (GRCm39)	R1136H	probably damaging	Het
Clspn	A	G	4: 126,460,012 (GRCm39)	D413G	probably benign	Het
Copz2	A	G	11: 96,744,309 (GRCm39)	K74E	possibly damaging	Het
Cpsf4l	C	A	11: 113,599,651 (GRCm39)	A45S	probably benign	Het
Cr2	T	C	1: 194,838,207 (GRCm39)	I710V	probably benign	Het
Csmd2	G	A	4: 128,446,479 (GRCm39)	R3348Q		Het
Dchs2	A	G	3: 83,178,419 (GRCm39)	I1157M	probably damaging	Het
Dennd5b	A	C	6: 148,930,619 (GRCm39)	C743G	probably damaging	Het
Dnah6	T	C	6: 73,155,440 (GRCm39)	E725G	probably benign	Het
Dnajc3	G	T	14: 119,190,589 (GRCm39)	G51*	probably null	Het
Dyrk2	T	C	10: 118,696,926 (GRCm39)	T111A	probably benign	Het
F5	T	A	1: 164,003,822 (GRCm39)	F206I	probably damaging	Het
Fam217b	T	A	2: 178,062,565 (GRCm39)	S176R	probably benign	Het
Farsb	A	T	1: 78,439,933 (GRCm39)	L313*	probably null	Het
Fbh1	A	G	2: 11,782,241 (GRCm39)		probably null	Het
Fgd4	G	A	16: 16,240,509 (GRCm39)	T740I	probably benign	Het
Gprc6a	G	T	10: 51,507,337 (GRCm39)	A64D	probably benign	Het
Gtf3c1	A	T	7: 125,253,723 (GRCm39)	V1365E	probably damaging	Het
Hdc	C	G	2: 126,439,890 (GRCm39)		probably null	Het
Igkv5-39	T	G	6: 69,877,553 (GRCm39)	I68L	possibly damaging	Het
Kcnh2	A	T	5: 24,531,636 (GRCm39)	V425D	probably damaging	Het
Kcnj12	T	C	11: 60,960,199 (GRCm39)	S166P	probably benign	Het
Krtap16-1	A	T	11: 99,876,524 (GRCm39)	C293*	probably null	Het
Map7	T	C	10: 20,137,581 (GRCm39)	V251A	probably damaging	Het
Myo7b	G	T	18: 32,100,244 (GRCm39)	L1597M	possibly damaging	Het
Nmu	T	C	5: 76,493,326 (GRCm39)	E82G	possibly damaging	Het
Nup85	T	C	11: 115,455,390 (GRCm39)		probably null	Het
Nwd2	A	G	5: 63,948,925 (GRCm39)	N166D	probably damaging	Het
Or52n2b	T	A	7: 104,565,681 (GRCm39)	H274L	possibly damaging	Het
Pbrm1	C	A	14: 30,789,739 (GRCm39)	D784E	probably benign	Het
Pcdhgb1	T	A	18: 37,815,117 (GRCm39)	M536K	possibly damaging	Het
Pml	T	A	9: 58,127,651 (GRCm39)	Q698L	possibly damaging	Het
Pon1	T	C	6: 5,171,769 (GRCm39)	Y294C	probably benign	Het
Rasal2	T	C	1: 156,973,849 (GRCm39)		probably null	Het
Rims1	T	A	1: 22,522,246 (GRCm39)	H484L	probably damaging	Het
Rpia	C	A	6: 70,743,630 (GRCm39)	V274L	possibly damaging	Het
Sart1	A	G	19: 5,433,225 (GRCm39)	L424P	probably damaging	Het
Scnm1	A	C	3: 95,040,134 (GRCm39)		probably null	Het
Slfn8	T	A	11: 82,894,968 (GRCm39)	M613L	possibly damaging	Het
Snph	A	G	2: 151,435,641 (GRCm39)	V429A	probably damaging	Het
Tarbp1	T	A	8: 127,170,934 (GRCm39)	D1022V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ttc8	A	G	12: 98,909,594 (GRCm39)	N100D	probably benign	Het
Zbtb49	T	A	5: 38,357,997 (GRCm39)	H752L	probably benign	Het
Zfp1005	A	T	2: 150,110,043 (GRCm39)	E244D	probably benign	Het
Zfp263	T	C	16: 3,564,760 (GRCm39)		probably null	Het
Zfp46	A	G	4: 136,018,458 (GRCm39)	T431A	probably benign	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
R7592:Dcst1	UTSW	3	89,260,599 (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
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'- TCAGACACTGGGGAATCCTG -3'
(R):5'- AGTGTGTCTCCAGGAAAGGC -3'

Sequencing Primer
(F):5'- TGGATGGCCCCATAGCAGAG -3'
(R):5'- AGAGTCTTCAGGTTCTATGGACC -3'

Posted On

2020-10-20