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)
|
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
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |