Incidental Mutation 'IGL02373:Dcst1'
ID |
291004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dcst1
|
Ensembl Gene |
ENSMUSG00000042672 |
Gene Name |
DC-STAMP domain containing 1 |
Synonyms |
A330106H01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL02373
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
89257526-89272560 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 89265198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 217
(N217K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070820]
[ENSMUST00000208216]
|
AlphaFold |
Q059Y8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070820
AA Change: N217K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000065502 Gene: ENSMUSG00000042672 AA Change: N217K
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 |
noncoding transcript
Transcript: ENSMUST00000200174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208216
|
Coding Region Coverage |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
C |
T |
4: 86,168,042 (GRCm39) |
L462F |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,607,832 (GRCm39) |
D4080G |
possibly damaging |
Het |
Apc |
A |
C |
18: 34,449,212 (GRCm39) |
D2002A |
probably damaging |
Het |
Apobr |
T |
A |
7: 126,184,563 (GRCm39) |
F25I |
probably damaging |
Het |
Cyp4a10 |
T |
A |
4: 115,378,274 (GRCm39) |
L120* |
probably null |
Het |
Daam2 |
A |
G |
17: 49,780,408 (GRCm39) |
S704P |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fmn1 |
C |
A |
2: 113,194,471 (GRCm39) |
P57Q |
unknown |
Het |
Galnt1 |
G |
A |
18: 24,413,092 (GRCm39) |
G464D |
possibly damaging |
Het |
Ggcx |
T |
A |
6: 72,404,902 (GRCm39) |
W437R |
probably damaging |
Het |
Igkv13-54-1 |
T |
C |
6: 69,594,304 (GRCm39) |
|
noncoding transcript |
Het |
Iglon5 |
T |
C |
7: 43,128,643 (GRCm39) |
E58G |
probably benign |
Het |
Met |
C |
T |
6: 17,491,528 (GRCm39) |
P97S |
probably damaging |
Het |
Msantd5f6 |
T |
C |
4: 73,321,880 (GRCm39) |
M52V |
probably benign |
Het |
Myg1 |
T |
A |
15: 102,245,268 (GRCm39) |
M158K |
probably damaging |
Het |
Ncald |
T |
A |
15: 37,372,453 (GRCm39) |
M131L |
probably benign |
Het |
Nipa2 |
T |
C |
7: 55,582,876 (GRCm39) |
I290V |
probably benign |
Het |
Or4f14b |
C |
A |
2: 111,775,178 (GRCm39) |
V208L |
probably benign |
Het |
Or5p79 |
A |
T |
7: 108,221,310 (GRCm39) |
Y97F |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,334 (GRCm39) |
L84S |
probably benign |
Het |
Ppfia3 |
C |
T |
7: 45,008,273 (GRCm39) |
R48Q |
probably damaging |
Het |
Rab12 |
A |
G |
17: 66,805,060 (GRCm39) |
L156P |
probably damaging |
Het |
Slc28a3 |
C |
T |
13: 58,726,218 (GRCm39) |
|
probably null |
Het |
Slc4a11 |
T |
C |
2: 130,526,818 (GRCm39) |
N770S |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,372 (GRCm39) |
|
probably null |
Het |
Vmn2r130 |
A |
T |
17: 23,295,866 (GRCm39) |
R679* |
probably null |
Het |
Vwa5b2 |
G |
A |
16: 20,423,594 (GRCm39) |
R1169H |
probably damaging |
Het |
|
Other mutations in Dcst1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |