Incidental Mutation 'IGL03280:Dcp1b'
| ID |
415572 |
| 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 # |
IGL03280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
119152214-119198575 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 119157019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073909]
[ENSMUST00000112777]
[ENSMUST00000186889]
[ENSMUST00000187474]
[ENSMUST00000187940]
[ENSMUST00000190285]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073909
|
| SMART Domains |
Protein: ENSMUSP00000073568
Gene: ENSMUSG00000041477
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108397
Gene: ENSMUSG00000041477
| 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 |
probably benign
Transcript: ENSMUST00000186889
|
| SMART Domains |
Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
1.5e-59 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
5e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
5.6e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
2.7e-51 |
PFAM |
|
Pfam:PKD_channel
|
1261 |
1512 |
1.3e-9 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
1.7e-69 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187474
|
| SMART Domains |
Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
|
Pfam:PKD_channel
|
1261 |
1512 |
7.3e-10 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
8.3e-70 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187940
|
| SMART Domains |
Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
7.6e-60 |
PFAM |
|
PDB:4DEY|B
|
435 |
533 |
4e-63 |
PDB |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
588 |
782 |
2.8e-46 |
PFAM |
|
low complexity region
|
797 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
882 |
N/A |
INTRINSIC |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
965 |
1195 |
5.6e-51 |
PFAM |
|
Pfam:PKD_channel
|
1260 |
1512 |
5.8e-11 |
PFAM |
|
Pfam:Ion_trans
|
1283 |
1505 |
1.2e-66 |
PFAM |
|
Blast:EFh
|
1526 |
1554 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1640 |
1674 |
3.28e-15 |
SMART |
|
low complexity region
|
1794 |
1804 |
N/A |
INTRINSIC |
|
low complexity region
|
1974 |
1988 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189057
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190285
|
| SMART Domains |
Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
transmembrane domain
|
155 |
177 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
191 |
434 |
4e-58 |
PFAM |
|
PDB:4DEY|B
|
435 |
558 |
2e-57 |
PDB |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
transmembrane domain
|
579 |
598 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
613 |
807 |
1.5e-44 |
PFAM |
|
low complexity region
|
822 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
900 |
907 |
N/A |
INTRINSIC |
|
transmembrane domain
|
951 |
973 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
990 |
1220 |
3e-49 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1537 |
1.4e-7 |
PFAM |
|
Pfam:Ion_trans
|
1308 |
1530 |
4.4e-68 |
PFAM |
|
Blast:EFh
|
1551 |
1579 |
5e-9 |
BLAST |
|
Ca_chan_IQ
|
1665 |
1699 |
2.5e-19 |
SMART |
|
low complexity region
|
1819 |
1829 |
N/A |
INTRINSIC |
|
low complexity region
|
1999 |
2013 |
N/A |
INTRINSIC |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb4 |
T |
C |
6: 5,423,416 (GRCm39) |
S188P |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,497,315 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
G |
T |
8: 120,040,873 (GRCm39) |
G693W |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 110,036,498 (GRCm39) |
Y559* |
probably null |
Het |
| Cemip |
G |
A |
7: 83,636,538 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,273,415 (GRCm39) |
|
probably benign |
Het |
| Crygf |
A |
G |
1: 65,967,329 (GRCm39) |
Y151C |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,043,198 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,221,504 (GRCm39) |
|
probably benign |
Het |
| Gabrp |
C |
T |
11: 33,502,616 (GRCm39) |
R416Q |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,282,099 (GRCm39) |
S530G |
possibly damaging |
Het |
| Impg2 |
T |
A |
16: 56,088,631 (GRCm39) |
Y1052* |
probably null |
Het |
| Isg15 |
T |
C |
4: 156,284,319 (GRCm39) |
M70V |
probably benign |
Het |
| Krit1 |
T |
A |
5: 3,861,248 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,504,146 (GRCm39) |
D57G |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,174,937 (GRCm39) |
E309G |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,367,886 (GRCm39) |
|
probably benign |
Het |
| Nptx1 |
T |
C |
11: 119,435,555 (GRCm39) |
T254A |
probably damaging |
Het |
| Or12e9 |
A |
T |
2: 87,202,467 (GRCm39) |
D197V |
probably damaging |
Het |
| Pigm |
A |
G |
1: 172,204,420 (GRCm39) |
Y52C |
probably damaging |
Het |
| Pramel27 |
A |
T |
4: 143,578,489 (GRCm39) |
T250S |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,002,611 (GRCm39) |
T2022A |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,022,076 (GRCm39) |
L646Q |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,309,978 (GRCm39) |
I84F |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,319,744 (GRCm39) |
|
probably benign |
Het |
| Selenop |
T |
C |
15: 3,310,104 (GRCm39) |
|
probably benign |
Het |
| Siglecf |
T |
G |
7: 43,005,354 (GRCm39) |
V438G |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,581,499 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,096,862 (GRCm39) |
F43S |
probably benign |
Het |
| Tgm6 |
A |
G |
2: 129,980,851 (GRCm39) |
Y216C |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,728,811 (GRCm39) |
C1234* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,237,627 (GRCm39) |
I1095R |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,304,897 (GRCm39) |
H377Y |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation