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: 0.614)
|
| 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 |
Incidental Mutation