Incidental Mutation 'IGL01635:Dcp1b'
| ID |
92952 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcp1b
|
| Ensembl Gene |
ENSMUSG00000041477 |
| Gene Name |
decapping mRNA 1B |
| Synonyms |
B930050E02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.630)
|
| Stock # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119152214-119198575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119183498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 195
(I195N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073909]
[ENSMUST00000112777]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073909
AA Change: I195N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000073568
Gene: ENSMUSG00000041477
AA Change: I195N
| 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 damaging
Transcript: ENSMUST00000112777
AA Change: I195N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108397
Gene: ENSMUSG00000041477
AA Change: I195N
| 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: ENSMUST00000136437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149651
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,243 (GRCm39) |
E106G |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
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 |
|
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 |
|
|
R2395:Dcp1b
|
UTSW |
6 |
119,192,025 (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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation