Incidental Mutation 'R2395:Dcp1b'
ID |
248489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcp1b
|
Ensembl Gene |
ENSMUSG00000041477 |
Gene Name |
decapping mRNA 1B |
Synonyms |
B930050E02Rik |
MMRRC Submission |
040363-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.630)
|
Stock # |
R2395 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
119152214-119198575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119192025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 314
(S314P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073909]
[ENSMUST00000112777]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073909
AA Change: S314P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000073568 Gene: ENSMUSG00000041477 AA Change: S314P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
Pfam:DCP1
|
10 |
131 |
1.3e-53 |
PFAM |
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112777
AA Change: S314P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108397 Gene: ENSMUSG00000041477 AA Change: S314P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
Pfam:DCP1
|
13 |
129 |
3e-46 |
PFAM |
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
low complexity region
|
515 |
526 |
N/A |
INTRINSIC |
Pfam:mRNA_decap_C
|
536 |
578 |
2.1e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149651
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (30/30) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function in removing the 5' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,519,305 (GRCm39) |
C341F |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
Mlph |
A |
G |
1: 90,861,228 (GRCm39) |
T288A |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
Nab1 |
A |
G |
1: 52,529,741 (GRCm39) |
I52T |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
Riox1 |
A |
T |
12: 83,997,418 (GRCm39) |
|
probably null |
Het |
Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,026,435 (GRCm39) |
L373* |
probably null |
Het |
Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
probably damaging |
Het |
|
Other mutations in Dcp1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01296:Dcp1b
|
APN |
6 |
119,192,319 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01320:Dcp1b
|
APN |
6 |
119,192,036 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01348:Dcp1b
|
APN |
6 |
119,160,679 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01635:Dcp1b
|
APN |
6 |
119,183,498 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02888:Dcp1b
|
APN |
6 |
119,197,048 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03280:Dcp1b
|
APN |
6 |
119,157,019 (GRCm39) |
intron |
probably benign |
|
R1672:Dcp1b
|
UTSW |
6 |
119,194,872 (GRCm39) |
missense |
probably benign |
|
R2421:Dcp1b
|
UTSW |
6 |
119,192,227 (GRCm39) |
missense |
probably benign |
0.28 |
R2512:Dcp1b
|
UTSW |
6 |
119,183,473 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2870:Dcp1b
|
UTSW |
6 |
119,191,735 (GRCm39) |
missense |
probably benign |
|
R2870:Dcp1b
|
UTSW |
6 |
119,191,735 (GRCm39) |
missense |
probably benign |
|
R4450:Dcp1b
|
UTSW |
6 |
119,183,437 (GRCm39) |
missense |
probably benign |
0.01 |
R5394:Dcp1b
|
UTSW |
6 |
119,152,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R5688:Dcp1b
|
UTSW |
6 |
119,194,872 (GRCm39) |
missense |
probably benign |
|
R7734:Dcp1b
|
UTSW |
6 |
119,192,244 (GRCm39) |
missense |
probably benign |
0.00 |
R7752:Dcp1b
|
UTSW |
6 |
119,152,318 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7847:Dcp1b
|
UTSW |
6 |
119,192,256 (GRCm39) |
missense |
probably benign |
|
R8274:Dcp1b
|
UTSW |
6 |
119,160,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R8325:Dcp1b
|
UTSW |
6 |
119,192,397 (GRCm39) |
nonsense |
probably null |
|
R9424:Dcp1b
|
UTSW |
6 |
119,196,993 (GRCm39) |
nonsense |
probably null |
|
R9576:Dcp1b
|
UTSW |
6 |
119,196,993 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGAAACTGTAAAGCCCTCC -3'
(R):5'- GCACAGGGGTTATACTTATGCAC -3'
Sequencing Primer
(F):5'- AAAGCCCTCCCGGACCTTTG -3'
(R):5'- AGGGGTTATACTTATGCACTGCCC -3'
|
Posted On |
2014-11-11 |