Incidental Mutation 'IGL01653:Dcp1a'
| ID |
102893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dcp1a
|
| Ensembl Gene |
ENSMUSG00000021962 |
| Gene Name |
decapping mRNA 1A |
| Synonyms |
SMIF, Mitc1, 1110066A22Rik, D14Ertd817e, 4930568L04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30201613-30249013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30227528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 134
(S134P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022535]
[ENSMUST00000225196]
[ENSMUST00000225286]
|
| AlphaFold |
Q91YD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022535
AA Change: S153P
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022535
Gene: ENSMUSG00000021962
AA Change: S153P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DCP1
|
28 |
144 |
1.8e-44 |
PFAM |
|
low complexity region
|
327 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
472 |
N/A |
INTRINSIC |
|
Pfam:mRNA_decap_C
|
559 |
601 |
6.3e-22 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223658
AA Change: S134P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225124
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225196
AA Change: S153P
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225286
AA Change: S134P
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225923
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,317,770 (GRCm39) |
T468A |
possibly damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Dcp1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02698:Dcp1a
|
APN |
14 |
30,227,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL02799:Dcp1a
|
UTSW |
14 |
30,241,636 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0240:Dcp1a
|
UTSW |
14 |
30,206,551 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Dcp1a
|
UTSW |
14 |
30,241,636 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0646:Dcp1a
|
UTSW |
14 |
30,224,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Dcp1a
|
UTSW |
14 |
30,235,032 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1843:Dcp1a
|
UTSW |
14 |
30,240,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2111:Dcp1a
|
UTSW |
14 |
30,241,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3176:Dcp1a
|
UTSW |
14 |
30,227,499 (GRCm39) |
splice site |
probably benign |
|
|
R4948:Dcp1a
|
UTSW |
14 |
30,201,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Dcp1a
|
UTSW |
14 |
30,224,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Dcp1a
|
UTSW |
14 |
30,245,261 (GRCm39) |
makesense |
probably null |
|
|
R7767:Dcp1a
|
UTSW |
14 |
30,201,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7818:Dcp1a
|
UTSW |
14 |
30,201,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8248:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8248:Dcp1a
|
UTSW |
14 |
30,201,555 (GRCm39) |
intron |
probably benign |
|
|
R8250:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8271:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8297:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8302:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8326:Dcp1a
|
UTSW |
14 |
30,241,527 (GRCm39) |
nonsense |
probably null |
|
|
R8333:Dcp1a
|
UTSW |
14 |
30,244,883 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8818:Dcp1a
|
UTSW |
14 |
30,240,899 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9554:Dcp1a
|
UTSW |
14 |
30,201,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9599:Dcp1a
|
UTSW |
14 |
30,241,497 (GRCm39) |
missense |
probably benign |
|
|
R9641:Dcp1a
|
UTSW |
14 |
30,241,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation