Incidental Mutation 'IGL01320:Dcp1b'
| ID |
74025 |
| 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 # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119152214-119198575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119192036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 317
(S317R)
|
| 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: S317R
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073568
Gene: ENSMUSG00000041477
AA Change: S317R
| 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: S317R
PolyPhen 2
Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108397
Gene: ENSMUSG00000041477
AA Change: S317R
| 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
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
possibly 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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation