Incidental Mutation 'R6553:Dis3l2'
ID |
521760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l2
|
Ensembl Gene |
ENSMUSG00000053333 |
Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
Synonyms |
8030493P09Rik, 4930429A22Rik |
MMRRC Submission |
044678-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R6553 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 86673216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 69
(I69N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
AlphaFold |
Q8CI75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065694
AA Change: I69N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000070506 Gene: ENSMUSG00000053333 AA Change: I69N
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 damaging
Transcript: ENSMUST00000168237
AA Change: I69N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132673 Gene: ENSMUSG00000053333 AA Change: I69N
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: ENSMUST00000188121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189044
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190618
AA Change: I69N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139579 Gene: ENSMUSG00000053333 AA Change: I69N
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 |
|
Meta Mutation Damage Score |
0.9088 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
Asic5 |
A |
T |
3: 81,916,773 (GRCm39) |
T288S |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,945,692 (GRCm39) |
N72S |
probably benign |
Het |
Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
Cyp2c50 |
A |
G |
19: 40,079,046 (GRCm39) |
T130A |
probably benign |
Het |
Dapk1 |
T |
A |
13: 60,908,975 (GRCm39) |
V1196E |
probably damaging |
Het |
Exph5 |
A |
G |
9: 53,213,012 (GRCm39) |
|
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
Gm2888 |
A |
G |
14: 3,037,722 (GRCm38) |
H238R |
possibly damaging |
Het |
Gm5622 |
A |
G |
14: 51,895,200 (GRCm39) |
K120E |
probably damaging |
Het |
Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,126,558 (GRCm39) |
V245A |
probably damaging |
Het |
Kmt2e |
G |
A |
5: 23,668,024 (GRCm39) |
V28I |
probably damaging |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
Or6c6c |
C |
T |
10: 129,540,932 (GRCm39) |
R62C |
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Trav13n-3 |
A |
G |
14: 53,574,618 (GRCm39) |
T14A |
probably benign |
Het |
Trav9d-4 |
A |
T |
14: 53,221,198 (GRCm39) |
Q63L |
probably benign |
Het |
Vmn2r75 |
T |
A |
7: 85,813,453 (GRCm39) |
N450Y |
probably benign |
Het |
Vmn2r97 |
G |
A |
17: 19,150,566 (GRCm39) |
W471* |
probably null |
Het |
Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,367 (GRCm39) |
S313P |
probably 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 |
R4650:Dis3l2
|
UTSW |
1 |
86,918,043 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
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'- ATTGCTGCCTCATGTTTCTAGG -3'
(R):5'- CTAGGCAACATTGACATGAGC -3'
Sequencing Primer
(F):5'- GCCTCATGTTTCTAGGTGTGTCC -3'
(R):5'- CATTGACATGAGCTACAAAGGC -3'
|
Posted On |
2018-06-06 |