Incidental Mutation 'R5552:Dcst1'
| ID |
435164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcst1
|
| Ensembl Gene |
ENSMUSG00000042672 |
| Gene Name |
DC-STAMP domain containing 1 |
| Synonyms |
A330106H01Rik |
| MMRRC Submission |
043109-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5552 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89257526-89272560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89272373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 30
(D30G)
|
| 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: D30G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: D30G
| 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: ENSMUST00000127766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208216
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,813,530 (GRCm39) |
Y403H |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Arhgap19 |
T |
C |
19: 41,772,819 (GRCm39) |
I291M |
probably benign |
Het |
| Blzf1 |
A |
T |
1: 164,130,058 (GRCm39) |
I91N |
probably damaging |
Het |
| Cdh2 |
T |
C |
18: 16,773,520 (GRCm39) |
T270A |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,470,272 (GRCm39) |
M1906K |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,483,846 (GRCm39) |
D799G |
probably benign |
Het |
| Csnk1g3 |
T |
C |
18: 54,065,355 (GRCm39) |
F313L |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,521,855 (GRCm39) |
V53A |
possibly damaging |
Het |
| Dlgap2 |
G |
T |
8: 14,881,342 (GRCm39) |
G805* |
probably null |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,966,855 (GRCm39) |
V222E |
probably damaging |
Het |
| Gli1 |
C |
A |
10: 127,166,131 (GRCm39) |
A1041S |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,243 (GRCm39) |
Q116L |
probably benign |
Het |
| H3c4 |
A |
G |
13: 23,760,295 (GRCm39) |
D107G |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,480,914 (GRCm39) |
L2985Q |
possibly damaging |
Het |
| Hk2 |
G |
T |
6: 82,707,804 (GRCm39) |
R694S |
possibly damaging |
Het |
| Htt |
A |
G |
5: 34,979,118 (GRCm39) |
M834V |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,195,578 (GRCm39) |
Y1600H |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,057,157 (GRCm39) |
Y340* |
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,938,569 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,284,768 (GRCm39) |
F586L |
probably benign |
Het |
| Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,616 (GRCm39) |
F234S |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,285,360 (GRCm39) |
V267A |
possibly damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,665 (GRCm39) |
I228N |
probably damaging |
Het |
| Or6c69c |
T |
C |
10: 129,911,014 (GRCm39) |
V245A |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,112,682 (GRCm39) |
V343A |
probably damaging |
Het |
| Pmfbp1 |
T |
A |
8: 110,258,383 (GRCm39) |
L649Q |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,914,872 (GRCm39) |
I2511V |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,145,135 (GRCm39) |
T64S |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,106,967 (GRCm39) |
R361* |
probably null |
Het |
| Serpina3g |
T |
C |
12: 104,206,595 (GRCm39) |
V132A |
probably damaging |
Het |
| Thada |
A |
C |
17: 84,736,558 (GRCm39) |
S908A |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,497 (GRCm39) |
Q459* |
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 |
|
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'- TCAGACACTGGGGAATCCTG -3'
(R):5'- CTACCCAGTTGTTCTGAGGG -3'
Sequencing Primer
(F):5'- TGCCGAGGAGTAAGGCC -3'
(R):5'- CAGTTGTTCTGAGGGCTCCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation