Incidental Mutation 'R0722:Dcst1'
| ID |
218775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcst1
|
| Ensembl Gene |
ENSMUSG00000042672 |
| Gene Name |
DC-STAMP domain containing 1 |
| Synonyms |
A330106H01Rik |
| MMRRC Submission |
038904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R0722 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89257526-89272560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89261112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 480
(R480H)
|
| 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: R480H
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065502
Gene: ENSMUSG00000042672
AA Change: R480H
| 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: ENSMUST00000200174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128002
|
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
| Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
| Bmper |
G |
T |
9: 23,285,224 (GRCm39) |
V258L |
probably benign |
Het |
| Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
| Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
| Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
| Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
| Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
| Ermard |
A |
G |
17: 15,242,390 (GRCm39) |
T189A |
probably benign |
Het |
| Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
| Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
| Herc4 |
A |
G |
10: 63,121,844 (GRCm39) |
I399V |
probably null |
Het |
| Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
| Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
| Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
| Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
| Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
| Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
| Pcna |
A |
G |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
| Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
| Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
| Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
| Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
| Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,730,645 (GRCm39) |
F620S |
probably damaging |
Het |
| Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
| Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
| Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
| Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
| Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAGCACAATAGGCAGAGTCTC -3'
(R):5'- TGTCAGATTGATGCACGCAGGAAG -3'
Sequencing Primer
(F):5'- TAGGCAGAGTCTCTAGGAGC -3'
(R):5'- TGCCAGAGGACACCTTATTG -3'
|
| Posted On |
2014-08-20 |
Incidental Mutation