Incidental Mutation 'R6178:Dcp1a'
ID |
487893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcp1a
|
Ensembl Gene |
ENSMUSG00000021962 |
Gene Name |
decapping mRNA 1A |
Synonyms |
SMIF, Mitc1, 1110066A22Rik, D14Ertd817e, 4930568L04Rik |
MMRRC Submission |
044320-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.262)
|
Stock # |
R6178 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30201613-30249013 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to G
at 30245261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glycine
at position 603
(*603G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022535]
[ENSMUST00000225196]
[ENSMUST00000225286]
|
AlphaFold |
Q91YD3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022535
AA Change: *603G
|
SMART Domains |
Protein: ENSMUSP00000022535 Gene: ENSMUSG00000021962 AA Change: *603G
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 |
noncoding transcript
Transcript: ENSMUST00000223568
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225124
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225196
AA Change: *603G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225521
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225407
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225243
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225806
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (54/55) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,678,468 (GRCm39) |
I61V |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,542,598 (GRCm39) |
T616I |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,852,671 (GRCm39) |
N195S |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Atg7 |
T |
A |
6: 114,701,856 (GRCm39) |
I621N |
probably damaging |
Het |
Becn1 |
T |
A |
11: 101,182,336 (GRCm39) |
I283F |
probably damaging |
Het |
Btnl12 |
T |
C |
16: 37,676,422 (GRCm39) |
Y115C |
probably damaging |
Het |
C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
Celsr1 |
C |
A |
15: 85,785,222 (GRCm39) |
R3004M |
probably benign |
Het |
Clspn |
A |
T |
4: 126,471,529 (GRCm39) |
|
probably null |
Het |
Csmd3 |
T |
C |
15: 48,536,854 (GRCm39) |
Y116C |
probably damaging |
Het |
Dmrtc1b |
C |
T |
X: 101,757,169 (GRCm39) |
P205S |
possibly damaging |
Het |
Fev |
G |
T |
1: 74,923,698 (GRCm39) |
|
probably benign |
Het |
Fry |
T |
A |
5: 150,377,987 (GRCm39) |
V393E |
probably damaging |
Het |
Gm30646 |
A |
G |
7: 30,132,081 (GRCm39) |
|
probably null |
Het |
Gm3676 |
C |
T |
14: 41,363,452 (GRCm39) |
E175K |
probably benign |
Het |
Gm4847 |
T |
C |
1: 166,469,905 (GRCm39) |
Y56C |
probably damaging |
Het |
Gm5422 |
T |
C |
10: 31,125,688 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
A |
G |
3: 107,848,397 (GRCm39) |
V174A |
probably benign |
Het |
Isoc1 |
G |
T |
18: 58,804,664 (GRCm39) |
V191F |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 33,874,009 (GRCm39) |
D132V |
possibly damaging |
Het |
Kcp |
T |
C |
6: 29,482,887 (GRCm39) |
D1394G |
possibly damaging |
Het |
Marchf10 |
T |
G |
11: 105,280,440 (GRCm39) |
D615A |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,495,187 (GRCm39) |
I50T |
probably damaging |
Het |
Mgp |
A |
G |
6: 136,849,722 (GRCm39) |
C79R |
probably damaging |
Het |
Mpdz |
T |
A |
4: 81,226,602 (GRCm39) |
K1344N |
probably damaging |
Het |
Mrgpre |
T |
A |
7: 143,334,708 (GRCm39) |
Y265F |
possibly damaging |
Het |
Mro |
G |
A |
18: 74,006,295 (GRCm39) |
V80M |
possibly damaging |
Het |
Mrpl44 |
G |
T |
1: 79,755,895 (GRCm39) |
C167F |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,410,079 (GRCm39) |
M1218V |
probably null |
Het |
Naa16 |
T |
C |
14: 79,620,780 (GRCm39) |
I100V |
possibly damaging |
Het |
Nup205 |
A |
T |
6: 35,220,778 (GRCm39) |
Y1860F |
possibly damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,533 (GRCm39) |
Y198F |
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,819 (GRCm39) |
I316M |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4c103 |
T |
C |
2: 88,513,977 (GRCm39) |
Y33C |
probably damaging |
Het |
Plcb3 |
A |
G |
19: 6,932,071 (GRCm39) |
|
probably null |
Het |
Pnpla3 |
G |
A |
15: 84,065,132 (GRCm39) |
A309T |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,498,296 (GRCm39) |
S624P |
possibly damaging |
Het |
Ripor2 |
T |
C |
13: 24,894,113 (GRCm39) |
S714P |
possibly damaging |
Het |
Robo4 |
C |
T |
9: 37,316,926 (GRCm39) |
Q414* |
probably null |
Het |
Shc2 |
A |
G |
10: 79,465,954 (GRCm39) |
I161T |
probably damaging |
Het |
Slc35b2 |
C |
T |
17: 45,877,302 (GRCm39) |
T143I |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,898,880 (GRCm39) |
D77G |
probably damaging |
Het |
Snx6 |
A |
C |
12: 54,807,249 (GRCm39) |
D243E |
probably damaging |
Het |
Taar8b |
A |
G |
10: 23,967,711 (GRCm39) |
V161A |
probably benign |
Het |
Tbr1 |
T |
A |
2: 61,635,159 (GRCm39) |
D36E |
possibly damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,618 (GRCm39) |
N118S |
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,852,517 (GRCm39) |
F478L |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,704,837 (GRCm39) |
D27G |
probably benign |
Het |
Trim30d |
T |
G |
7: 104,137,202 (GRCm39) |
M1L |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,679,301 (GRCm39) |
V420A |
probably damaging |
Het |
Ubap2 |
G |
T |
4: 41,206,981 (GRCm39) |
P199H |
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,926,212 (GRCm39) |
T512A |
probably damaging |
Het |
Zfp65 |
G |
A |
13: 67,858,437 (GRCm39) |
P76S |
probably benign |
Het |
Zic5 |
A |
T |
14: 122,696,748 (GRCm39) |
H622Q |
unknown |
Het |
Zpld1 |
A |
T |
16: 55,053,993 (GRCm39) |
N266K |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,972 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Dcp1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01653:Dcp1a
|
APN |
14 |
30,227,528 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGCTGTAAACCTGGACTGTC -3'
(R):5'- TGCTGCACAGTGAAACCTCC -3'
Sequencing Primer
(F):5'- AACCTGGACTGTCATTGTAACTGC -3'
(R):5'- CATCATCACTGAGAACGTCTCTAGG -3'
|
Posted On |
2017-10-10 |