Incidental Mutation 'R1140:Dis3l2'
| ID |
102011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l2
|
| Ensembl Gene |
ENSMUSG00000053333 |
| Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
| Synonyms |
8030493P09Rik, 4930429A22Rik |
| MMRRC Submission |
039213-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R1140 (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 T
at 86749160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 209
(T209S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
| AlphaFold |
Q8CI75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065694
AA Change: T195S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: T195S
| 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: T209S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: T209S
| 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: ENSMUST00000189044
|
| 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: ENSMUST00000194093
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,876,874 (GRCm39) |
S161T |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,752 (GRCm39) |
K214E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
| Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
C |
T |
2: 130,458,135 (GRCm39) |
V152I |
probably benign |
Het |
| Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
| Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
| Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,366,118 (GRCm39) |
S231P |
possibly damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
| Xxylt1 |
T |
A |
16: 30,826,666 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation