Incidental Mutation 'R0891:Dcst1'
| ID |
83493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcst1
|
| Ensembl Gene |
ENSMUSG00000042672 |
| Gene Name |
DC-STAMP domain containing 1 |
| Synonyms |
A330106H01Rik |
| MMRRC Submission |
039054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89257526-89272560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89260584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 560
(T560I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029676]
[ENSMUST00000070820]
[ENSMUST00000074582]
[ENSMUST00000107446]
[ENSMUST00000107448]
[ENSMUST00000184651]
|
| AlphaFold |
Q059Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029676
|
| SMART Domains |
Protein: ENSMUSP00000029676
Gene: ENSMUSG00000028041
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
29 |
158 |
1.2e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
208 |
360 |
1e-12 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.5e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
416 |
1.6e-54 |
PFAM |
|
Pfam:Reprolysin_2
|
257 |
405 |
9.9e-12 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
862 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070820
AA Change: T560I
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: T560I
| 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: ENSMUST00000074582
|
| SMART Domains |
Protein: ENSMUSP00000074167
Gene: ENSMUSG00000028041
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.6e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.6e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
2.9e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.2e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.7e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
254 |
405 |
1.1e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
813 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107446
|
| SMART Domains |
Protein: ENSMUSP00000103070
Gene: ENSMUSG00000028041
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
9.9e-22 |
PFAM |
|
Pfam:Reprolysin_3
|
209 |
360 |
5.9e-15 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
5e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
213 |
410 |
1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
1.4e-56 |
PFAM |
|
Pfam:Reprolysin_2
|
253 |
405 |
4e-11 |
PFAM |
|
low complexity region
|
416 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107448
|
| SMART Domains |
Protein: ENSMUSP00000103072
Gene: ENSMUSG00000028041
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.7e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.6e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.4e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.8e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
254 |
405 |
1.2e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127766
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184651
|
| SMART Domains |
Protein: ENSMUSP00000139147
Gene: ENSMUSG00000028041
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
164 |
2.9e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
394 |
1.7e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
214 |
410 |
3.1e-8 |
PFAM |
|
Pfam:Reprolysin
|
214 |
415 |
4.6e-56 |
PFAM |
|
Pfam:Reprolysin_3
|
238 |
360 |
1.9e-14 |
PFAM |
|
Pfam:Reprolysin_2
|
255 |
405 |
1.2e-10 |
PFAM |
|
DISIN
|
431 |
507 |
2.28e-37 |
SMART |
|
ACR
|
508 |
650 |
8.38e-56 |
SMART |
|
EGF
|
657 |
686 |
7.02e-1 |
SMART |
|
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
781 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
862 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
| Validation Efficiency |
100% (41/41) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
| Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
| Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
| Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
| Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
| Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
| Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
| Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
| Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGACCTCAAAGCTCTGGTAAC -3'
(R):5'- GCCAGCACTCTTTCGTGCAGTATTC -3'
Sequencing Primer
(F):5'- GGTAACCATTTTTCTCTGATCCAAG -3'
(R):5'- CAGAGCCTGGGGCCAAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation