Incidental Mutation 'R5272:Dis3l2'
| ID |
400375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l2
|
| Ensembl Gene |
ENSMUSG00000053333 |
| Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
| Synonyms |
4930429A22Rik, 8030493P09Rik |
| MMRRC Submission |
042836-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R5272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86703808-87050095 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86973404 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 439
(V439A)
|
| 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: V439A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: V439A
| 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: V453A
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: V453A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
A |
G |
3: 32,718,610 (GRCm38) |
E245G |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,794,162 (GRCm38) |
T213S |
possibly damaging |
Het |
| Cep152 |
G |
A |
2: 125,611,030 (GRCm38) |
T374I |
probably benign |
Het |
| Crx |
C |
T |
7: 15,868,285 (GRCm38) |
C156Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,199,944 (GRCm38) |
T1007S |
probably damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,176,614 (GRCm38) |
C164S |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,558,029 (GRCm38) |
I137F |
possibly damaging |
Het |
| Dgkg |
C |
A |
16: 22,588,294 (GRCm38) |
|
probably null |
Het |
| Dicer1 |
A |
G |
12: 104,704,240 (GRCm38) |
I1022T |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,350,665 (GRCm38) |
V2611A |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,127,861 (GRCm38) |
|
probably null |
Het |
| Ercc6 |
A |
T |
14: 32,519,028 (GRCm38) |
K170* |
probably null |
Het |
| Fibcd1 |
A |
T |
2: 31,816,623 (GRCm38) |
C399S |
probably damaging |
Het |
| Fibcd1 |
G |
T |
2: 31,816,624 (GRCm38) |
N398K |
probably damaging |
Het |
| Fnbp4 |
G |
A |
2: 90,753,115 (GRCm38) |
M327I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,065,136 (GRCm38) |
L256* |
probably null |
Het |
| Galr1 |
T |
A |
18: 82,405,636 (GRCm38) |
Y172F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 34,220,690 (GRCm38) |
N186S |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 52,905,015 (GRCm38) |
I614V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,478,273 (GRCm38) |
I398N |
probably damaging |
Het |
| Mia3 |
G |
A |
1: 183,328,270 (GRCm38) |
R656* |
probably null |
Het |
| Mup6 |
G |
C |
4: 60,005,922 (GRCm38) |
G138A |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,448,476 (GRCm38) |
V521A |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,224,212 (GRCm38) |
T208A |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,481,642 (GRCm38) |
E1096G |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,340,365 (GRCm38) |
A208V |
probably benign |
Het |
| Panx1 |
C |
T |
9: 15,044,856 (GRCm38) |
|
probably null |
Het |
| Pcdhb4 |
A |
G |
18: 37,307,766 (GRCm38) |
Y43C |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,640,158 (GRCm38) |
Y62H |
probably damaging |
Het |
| Rab40b |
A |
G |
11: 121,357,308 (GRCm38) |
V190A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,653,213 (GRCm38) |
E4063G |
probably damaging |
Het |
| Smlr1 |
T |
C |
10: 25,536,027 (GRCm38) |
I21V |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,874,203 (GRCm38) |
Y1614N |
probably damaging |
Het |
| Tesmin |
C |
A |
19: 3,406,992 (GRCm38) |
A257E |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 70,846,254 (GRCm38) |
L34P |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,669,605 (GRCm38) |
T446K |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,561,053 (GRCm38) |
I187T |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,307,952 (GRCm38) |
V119E |
probably damaging |
Het |
| Trf |
A |
T |
9: 103,227,978 (GRCm38) |
M45K |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,929,919 (GRCm38) |
C524R |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 74,742,977 (GRCm38) |
V293I |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,107,227 (GRCm38) |
R96C |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,586,835 (GRCm38) |
Q222R |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,496,224 (GRCm38) |
V380D |
probably damaging |
Het |
|
| Other mutations in Dis3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Dis3l2
|
APN |
1 |
86,857,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01607:Dis3l2
|
APN |
1 |
86,745,487 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02233:Dis3l2
|
APN |
1 |
86,990,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02698:Dis3l2
|
APN |
1 |
87,048,829 (GRCm38) |
splice site |
probably benign |
|
|
R0514:Dis3l2
|
UTSW |
1 |
87,047,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0893:Dis3l2
|
UTSW |
1 |
87,044,206 (GRCm38) |
splice site |
probably null |
|
|
R1086:Dis3l2
|
UTSW |
1 |
86,990,149 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1140:Dis3l2
|
UTSW |
1 |
86,821,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1509:Dis3l2
|
UTSW |
1 |
87,021,086 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2029:Dis3l2
|
UTSW |
1 |
86,854,467 (GRCm38) |
splice site |
probably benign |
|
|
R2511:Dis3l2
|
UTSW |
1 |
86,990,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3772:Dis3l2
|
UTSW |
1 |
86,854,408 (GRCm38) |
missense |
probably benign |
|
|
R4163:Dis3l2
|
UTSW |
1 |
86,821,237 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4547:Dis3l2
|
UTSW |
1 |
87,049,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4548:Dis3l2
|
UTSW |
1 |
87,049,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4650:Dis3l2
|
UTSW |
1 |
86,990,321 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4810:Dis3l2
|
UTSW |
1 |
87,047,574 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4936:Dis3l2
|
UTSW |
1 |
87,044,168 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5010:Dis3l2
|
UTSW |
1 |
86,760,321 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5040:Dis3l2
|
UTSW |
1 |
86,857,337 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5500:Dis3l2
|
UTSW |
1 |
87,021,119 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5556:Dis3l2
|
UTSW |
1 |
86,973,404 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5772:Dis3l2
|
UTSW |
1 |
86,878,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5808:Dis3l2
|
UTSW |
1 |
87,049,638 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5950:Dis3l2
|
UTSW |
1 |
87,021,108 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6328:Dis3l2
|
UTSW |
1 |
86,854,431 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6553:Dis3l2
|
UTSW |
1 |
86,745,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6585:Dis3l2
|
UTSW |
1 |
86,745,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6905:Dis3l2
|
UTSW |
1 |
87,044,839 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6921:Dis3l2
|
UTSW |
1 |
86,857,341 (GRCm38) |
missense |
probably benign |
|
|
R7162:Dis3l2
|
UTSW |
1 |
87,044,030 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7270:Dis3l2
|
UTSW |
1 |
86,990,303 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7438:Dis3l2
|
UTSW |
1 |
86,745,500 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8422:Dis3l2
|
UTSW |
1 |
86,854,377 (GRCm38) |
missense |
probably benign |
|
|
R8696:Dis3l2
|
UTSW |
1 |
86,791,440 (GRCm38) |
nonsense |
probably null |
|
|
R9235:Dis3l2
|
UTSW |
1 |
86,821,339 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9291:Dis3l2
|
UTSW |
1 |
86,973,493 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9629:Dis3l2
|
UTSW |
1 |
87,047,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0027:Dis3l2
|
UTSW |
1 |
86,760,351 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAACAGTGACAGTGTTTCTG -3'
(R):5'- CACGGTGCTTACCACAAGAG -3'
Sequencing Primer
(F):5'- TACTTCCCAGGCAGAGCTGAG -3'
(R):5'- CGGTGCTTACCACAAGAGATAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation