Incidental Mutation 'R4650:Dis3l2'
ID |
351193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l2
|
Ensembl Gene |
ENSMUSG00000053333 |
Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
Synonyms |
8030493P09Rik, 4930429A22Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R4650 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86918043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 550
(D550G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
AlphaFold |
Q8CI75 |
PDB Structure |
Structure of mouse Dis3L2 in complex with oligoU RNA substrate [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065694
AA Change: D550G
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000070506 Gene: ENSMUSG00000053333 AA Change: D550G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
RNB
|
369 |
719 |
8.9e-140 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168237
AA Change: D564G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132673 Gene: ENSMUSG00000053333 AA Change: D564G
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
RNB
|
383 |
733 |
8.9e-140 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185304
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190618
|
SMART Domains |
Protein: ENSMUSP00000139579 Gene: ENSMUSG00000053333
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
33 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
PDB:2VNU|D
|
50 |
123 |
4e-10 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195266
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110025L11Rik |
T |
A |
16: 88,860,603 (GRCm39) |
Y77F |
unknown |
Het |
4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
Aldoa |
A |
G |
7: 126,396,879 (GRCm39) |
S71P |
possibly damaging |
Het |
Arhgef12 |
A |
G |
9: 42,893,266 (GRCm39) |
V979A |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Brd8 |
T |
C |
18: 34,739,752 (GRCm39) |
T674A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
Capza1 |
A |
G |
3: 104,752,296 (GRCm39) |
V14A |
probably damaging |
Het |
Cdk2 |
A |
T |
10: 128,538,364 (GRCm39) |
I135N |
probably damaging |
Het |
Celf4 |
A |
T |
18: 25,629,302 (GRCm39) |
M407K |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
Cideb |
A |
G |
14: 55,992,688 (GRCm39) |
V76A |
possibly damaging |
Het |
Dbpht2 |
C |
G |
12: 74,345,933 (GRCm39) |
|
noncoding transcript |
Het |
Dnah1 |
A |
T |
14: 31,006,844 (GRCm39) |
|
probably null |
Het |
Edc4 |
T |
A |
8: 106,619,307 (GRCm39) |
L1293* |
probably null |
Het |
Elp5 |
A |
G |
11: 69,860,398 (GRCm39) |
V203A |
possibly damaging |
Het |
Fndc7 |
T |
C |
3: 108,770,135 (GRCm39) |
N597S |
probably benign |
Het |
Gjb3 |
T |
C |
4: 127,220,484 (GRCm39) |
Y16C |
probably damaging |
Het |
Gm5773 |
A |
G |
3: 93,680,712 (GRCm39) |
D128G |
probably benign |
Het |
Gnb1l |
T |
C |
16: 18,363,025 (GRCm39) |
|
probably null |
Het |
Gon4l |
G |
A |
3: 88,770,859 (GRCm39) |
D514N |
possibly damaging |
Het |
Grhl3 |
T |
A |
4: 135,276,547 (GRCm39) |
|
probably null |
Het |
Hoxc10 |
T |
C |
15: 102,875,698 (GRCm39) |
S136P |
probably benign |
Het |
Ift22 |
G |
A |
5: 136,940,655 (GRCm39) |
V107I |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
Lgi4 |
G |
A |
7: 30,768,554 (GRCm39) |
A518T |
probably benign |
Het |
Lhx2 |
T |
A |
2: 38,250,052 (GRCm39) |
N290K |
probably damaging |
Het |
Ltbp4 |
A |
T |
7: 27,013,734 (GRCm39) |
C1092S |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,412 (GRCm39) |
I2450V |
probably benign |
Het |
Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
Myb |
A |
G |
10: 21,028,840 (GRCm39) |
L86P |
probably damaging |
Het |
Myh3 |
C |
T |
11: 66,977,270 (GRCm39) |
T333M |
probably damaging |
Het |
Nek11 |
T |
C |
9: 105,225,279 (GRCm39) |
N78D |
possibly damaging |
Het |
Nmi |
C |
A |
2: 51,838,646 (GRCm39) |
C296F |
probably benign |
Het |
Nphs1 |
A |
T |
7: 30,181,895 (GRCm39) |
T1163S |
probably benign |
Het |
Npy4r |
C |
T |
14: 33,868,181 (GRCm39) |
G369D |
possibly damaging |
Het |
Ola1 |
T |
C |
2: 72,972,309 (GRCm39) |
T221A |
probably damaging |
Het |
Or51d1 |
A |
G |
7: 102,348,027 (GRCm39) |
D194G |
probably damaging |
Het |
Or8c11 |
T |
C |
9: 38,289,699 (GRCm39) |
F168S |
probably damaging |
Het |
Pfkfb2 |
A |
T |
1: 130,633,200 (GRCm39) |
N184K |
possibly damaging |
Het |
Plce1 |
T |
C |
19: 38,513,088 (GRCm39) |
V129A |
probably benign |
Het |
Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
Pth |
A |
T |
7: 112,985,026 (GRCm39) |
*116K |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
Rwdd3 |
A |
G |
3: 120,952,826 (GRCm39) |
F55S |
probably damaging |
Het |
Serpinb9d |
A |
T |
13: 33,386,836 (GRCm39) |
L301F |
probably benign |
Het |
Slc35e4 |
A |
G |
11: 3,862,677 (GRCm39) |
C171R |
probably damaging |
Het |
Slco1a4 |
A |
T |
6: 141,758,424 (GRCm39) |
I529K |
possibly damaging |
Het |
Styk1 |
A |
T |
6: 131,277,532 (GRCm39) |
W370R |
probably damaging |
Het |
Tmprss11e |
C |
A |
5: 86,875,212 (GRCm39) |
W18L |
probably damaging |
Het |
Trpv1 |
A |
C |
11: 73,129,089 (GRCm39) |
E2A |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,261,035 (GRCm39) |
I1799N |
probably damaging |
Het |
Vmn1r213 |
G |
A |
13: 23,196,422 (GRCm39) |
C335Y |
possibly damaging |
Het |
Vps37c |
C |
T |
19: 10,690,273 (GRCm39) |
S245L |
probably benign |
Het |
Wrn |
T |
C |
8: 33,745,537 (GRCm39) |
T1191A |
probably benign |
Het |
Zfp13 |
A |
G |
17: 23,799,112 (GRCm39) |
L153P |
probably damaging |
Het |
Zfp472 |
T |
G |
17: 33,196,631 (GRCm39) |
S235R |
possibly damaging |
Het |
|
Other mutations in Dis3l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01382:Dis3l2
|
APN |
1 |
86,784,925 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01607:Dis3l2
|
APN |
1 |
86,673,209 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02233:Dis3l2
|
APN |
1 |
86,917,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02698:Dis3l2
|
APN |
1 |
86,976,551 (GRCm39) |
splice site |
probably benign |
|
R0514:Dis3l2
|
UTSW |
1 |
86,974,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0893:Dis3l2
|
UTSW |
1 |
86,971,928 (GRCm39) |
splice site |
probably null |
|
R1086:Dis3l2
|
UTSW |
1 |
86,917,871 (GRCm39) |
missense |
probably benign |
0.36 |
R1140:Dis3l2
|
UTSW |
1 |
86,749,160 (GRCm39) |
missense |
probably benign |
0.00 |
R1509:Dis3l2
|
UTSW |
1 |
86,948,808 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2029:Dis3l2
|
UTSW |
1 |
86,782,189 (GRCm39) |
splice site |
probably benign |
|
R2511:Dis3l2
|
UTSW |
1 |
86,917,980 (GRCm39) |
missense |
probably benign |
0.05 |
R3772:Dis3l2
|
UTSW |
1 |
86,782,130 (GRCm39) |
missense |
probably benign |
|
R4163:Dis3l2
|
UTSW |
1 |
86,748,959 (GRCm39) |
missense |
probably benign |
0.00 |
R4547:Dis3l2
|
UTSW |
1 |
86,977,393 (GRCm39) |
missense |
probably benign |
0.00 |
R4548:Dis3l2
|
UTSW |
1 |
86,977,393 (GRCm39) |
missense |
probably benign |
0.00 |
R4810:Dis3l2
|
UTSW |
1 |
86,975,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R4936:Dis3l2
|
UTSW |
1 |
86,971,890 (GRCm39) |
missense |
probably benign |
0.00 |
R5010:Dis3l2
|
UTSW |
1 |
86,688,043 (GRCm39) |
missense |
probably benign |
0.21 |
R5040:Dis3l2
|
UTSW |
1 |
86,785,059 (GRCm39) |
missense |
probably damaging |
0.98 |
R5272:Dis3l2
|
UTSW |
1 |
86,901,126 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5500:Dis3l2
|
UTSW |
1 |
86,948,841 (GRCm39) |
critical splice donor site |
probably null |
|
R5556:Dis3l2
|
UTSW |
1 |
86,901,126 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5772:Dis3l2
|
UTSW |
1 |
86,806,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5808:Dis3l2
|
UTSW |
1 |
86,977,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5950:Dis3l2
|
UTSW |
1 |
86,948,830 (GRCm39) |
missense |
probably damaging |
0.96 |
R6328:Dis3l2
|
UTSW |
1 |
86,782,153 (GRCm39) |
missense |
probably benign |
0.05 |
R6553:Dis3l2
|
UTSW |
1 |
86,673,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6585:Dis3l2
|
UTSW |
1 |
86,673,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6905:Dis3l2
|
UTSW |
1 |
86,972,561 (GRCm39) |
missense |
probably benign |
0.00 |
R6921:Dis3l2
|
UTSW |
1 |
86,785,063 (GRCm39) |
missense |
probably benign |
|
R7162:Dis3l2
|
UTSW |
1 |
86,971,752 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7270:Dis3l2
|
UTSW |
1 |
86,918,025 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7438:Dis3l2
|
UTSW |
1 |
86,673,222 (GRCm39) |
critical splice donor site |
probably null |
|
R8422:Dis3l2
|
UTSW |
1 |
86,782,099 (GRCm39) |
missense |
probably benign |
|
R8696:Dis3l2
|
UTSW |
1 |
86,719,162 (GRCm39) |
nonsense |
probably null |
|
R9235:Dis3l2
|
UTSW |
1 |
86,749,061 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9291:Dis3l2
|
UTSW |
1 |
86,901,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9629:Dis3l2
|
UTSW |
1 |
86,974,784 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Dis3l2
|
UTSW |
1 |
86,688,073 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGTTCTTGCACCAAACTGAG -3'
(R):5'- CAGGTTTTCCAGGTAAGAGCAG -3'
Sequencing Primer
(F):5'- GTTCTTGCACCAAACTGAGCTACG -3'
(R):5'- CAGCTGGGAGTCACAGAACTC -3'
|
Posted On |
2015-10-08 |