Incidental Mutation 'R2371:Dcst1'
ID 247521
Institutional Source Beutler Lab
Gene Symbol Dcst1
Ensembl Gene ENSMUSG00000042672
Gene Name DC-STAMP domain containing 1
Synonyms A330106H01Rik
MMRRC Submission 040351-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2371 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89257526-89272560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 89265949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 179 (V179L)
Ref Sequence ENSEMBL: ENSMUSP00000065502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070820] [ENSMUST00000208216]
AlphaFold Q059Y8
Predicted Effect possibly damaging
Transcript: ENSMUST00000070820
AA Change: V179L

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: V179L

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000098929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139467
Predicted Effect probably benign
Transcript: ENSMUST00000208216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200174
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.0%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Adamts18 T A 8: 114,431,893 (GRCm39) E1105V probably benign Het
Colec10 A G 15: 54,325,796 (GRCm39) I209V possibly damaging Het
Cttnbp2 T G 6: 18,380,603 (GRCm39) S1422R possibly damaging Het
Fbxw9 T C 8: 85,788,658 (GRCm39) Y165H probably benign Het
Fgl2 A T 5: 21,580,816 (GRCm39) Y386F probably damaging Het
Gabrb2 A G 11: 42,482,691 (GRCm39) Y183C probably damaging Het
Hlcs A G 16: 94,068,926 (GRCm39) L245P probably damaging Het
Hormad1 T A 3: 95,482,910 (GRCm39) I132K probably benign Het
Itga8 A T 2: 12,258,277 (GRCm39) D262E probably damaging Het
Jhy G A 9: 40,828,778 (GRCm39) T376I probably benign Het
Kidins220 T C 12: 25,107,323 (GRCm39) L1592P probably damaging Het
Kif3b T C 2: 153,164,743 (GRCm39) I587T possibly damaging Het
Lrrc7 A G 3: 157,866,697 (GRCm39) Y1015H probably damaging Het
Lvrn T G 18: 47,011,230 (GRCm39) probably null Het
Mapkbp1 C A 2: 119,841,261 (GRCm39) Q83K probably damaging Het
Or2g25 T C 17: 37,971,044 (GRCm39) Y60C probably damaging Het
Or5b12 A T 19: 12,897,031 (GRCm39) I214N probably benign Het
Pigc T C 1: 161,798,579 (GRCm39) V187A possibly damaging Het
Ros1 A T 10: 52,039,991 (GRCm39) H333Q possibly damaging Het
Rreb1 T C 13: 38,100,513 (GRCm39) F215L probably benign Het
Rtcb C T 10: 85,779,697 (GRCm39) M324I probably benign Het
Senp2 A G 16: 21,837,125 (GRCm39) I125V possibly damaging Het
Shroom3 A G 5: 92,928,729 (GRCm39) K95E probably damaging Het
Wrnip1 C T 13: 32,986,410 (GRCm39) P64S probably benign Het
Zbtb24 C T 10: 41,327,264 (GRCm39) A50V probably damaging Het
Other mutations in Dcst1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAAAGGCTCTGCAATGTCTGGG -3'
(R):5'- TCATTATGGAGGCCCAGAAGG -3'

Sequencing Primer
(F):5'- CTGCAATGTCTGGGGATAGTGATAC -3'
(R):5'- CCCAGAAGGTGGCCTAATGTCTAG -3'
Posted On 2014-11-11