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 |
4930429A22Rik, 8030493P09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.315)
|
| Stock # |
R6553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86703808-87050095 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86745494 bp (GRCm38)
|
| 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: 121,501,187 |
D598E |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,842,177 |
K1989E |
probably benign |
Het |
| Asic5 |
A |
T |
3: 82,009,466 |
T288S |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,725,430 |
N72S |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,511,745 |
V628E |
probably benign |
Het |
| Cyp2c50 |
A |
G |
19: 40,090,602 |
T130A |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,761,161 |
V1196E |
probably damaging |
Het |
| Exph5 |
A |
G |
9: 53,301,712 |
|
probably benign |
Het |
| Fcgbp |
A |
T |
7: 28,113,979 |
Q2313L |
possibly damaging |
Het |
| Gm2888 |
A |
G |
14: 3,037,722 |
H238R |
possibly damaging |
Het |
| Gm5622 |
A |
G |
14: 51,657,743 |
K120E |
probably damaging |
Het |
| Gm7534 |
A |
G |
4: 134,202,056 |
S313P |
probably damaging |
Het |
| Gpr155 |
A |
T |
2: 73,349,645 |
I157N |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,072,394 |
V245A |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,463,026 |
V28I |
probably damaging |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,519,635 |
|
probably null |
Het |
| Nprl3 |
C |
T |
11: 32,234,812 |
R399Q |
probably benign |
Het |
| Olfr804 |
C |
T |
10: 129,705,063 |
R62C |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 150,103,987 |
V281A |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,374,422 |
E73G |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,222,418 |
|
probably benign |
Het |
| Trav13n-3 |
A |
G |
14: 53,337,161 |
T14A |
probably benign |
Het |
| Trav9d-4 |
A |
T |
14: 52,983,741 |
Q63L |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 86,164,245 |
N450Y |
probably benign |
Het |
| Vmn2r97 |
G |
A |
17: 18,930,304 |
W471* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,896,393 |
T49I |
possibly damaging |
Het |
|
| Other mutations in Dis3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Dis3l2
|
APN |
1 |
86857203 |
missense |
probably benign |
0.00 |
|
IGL01607:Dis3l2
|
APN |
1 |
86745487 |
missense |
probably benign |
0.04 |
|
IGL02233:Dis3l2
|
APN |
1 |
86990231 |
missense |
probably damaging |
1.00 |
|
IGL02698:Dis3l2
|
APN |
1 |
87048829 |
splice site |
probably benign |
|
|
R0514:Dis3l2
|
UTSW |
1 |
87047092 |
missense |
probably damaging |
1.00 |
|
R0893:Dis3l2
|
UTSW |
1 |
87044206 |
splice site |
probably null |
|
|
R1086:Dis3l2
|
UTSW |
1 |
86990149 |
missense |
probably benign |
0.36 |
|
R1140:Dis3l2
|
UTSW |
1 |
86821438 |
missense |
probably benign |
0.00 |
|
R1509:Dis3l2
|
UTSW |
1 |
87021086 |
missense |
possibly damaging |
0.91 |
|
R2029:Dis3l2
|
UTSW |
1 |
86854467 |
splice site |
probably benign |
|
|
R2511:Dis3l2
|
UTSW |
1 |
86990258 |
missense |
probably benign |
0.05 |
|
R3772:Dis3l2
|
UTSW |
1 |
86854408 |
missense |
probably benign |
|
|
R4163:Dis3l2
|
UTSW |
1 |
86821237 |
missense |
probably benign |
0.00 |
|
R4547:Dis3l2
|
UTSW |
1 |
87049671 |
missense |
probably benign |
0.00 |
|
R4548:Dis3l2
|
UTSW |
1 |
87049671 |
missense |
probably benign |
0.00 |
|
R4650:Dis3l2
|
UTSW |
1 |
86990321 |
missense |
possibly damaging |
0.83 |
|
R4810:Dis3l2
|
UTSW |
1 |
87047574 |
missense |
probably damaging |
0.99 |
|
R4936:Dis3l2
|
UTSW |
1 |
87044168 |
missense |
probably benign |
0.00 |
|
R5010:Dis3l2
|
UTSW |
1 |
86760321 |
missense |
probably benign |
0.21 |
|
R5040:Dis3l2
|
UTSW |
1 |
86857337 |
missense |
probably damaging |
0.98 |
|
R5272:Dis3l2
|
UTSW |
1 |
86973404 |
missense |
possibly damaging |
0.72 |
|
R5500:Dis3l2
|
UTSW |
1 |
87021119 |
critical splice donor site |
probably null |
|
|
R5556:Dis3l2
|
UTSW |
1 |
86973404 |
missense |
possibly damaging |
0.72 |
|
R5772:Dis3l2
|
UTSW |
1 |
86878432 |
missense |
probably damaging |
1.00 |
|
R5808:Dis3l2
|
UTSW |
1 |
87049638 |
missense |
possibly damaging |
0.94 |
|
R5950:Dis3l2
|
UTSW |
1 |
87021108 |
missense |
probably damaging |
0.96 |
|
R6328:Dis3l2
|
UTSW |
1 |
86854431 |
missense |
probably benign |
0.05 |
|
R6585:Dis3l2
|
UTSW |
1 |
86745494 |
missense |
probably damaging |
1.00 |
|
R6905:Dis3l2
|
UTSW |
1 |
87044839 |
missense |
probably benign |
0.00 |
|
R6921:Dis3l2
|
UTSW |
1 |
86857341 |
missense |
probably benign |
|
|
R7162:Dis3l2
|
UTSW |
1 |
87044030 |
missense |
possibly damaging |
0.94 |
|
R7270:Dis3l2
|
UTSW |
1 |
86990303 |
missense |
possibly damaging |
0.49 |
|
R7438:Dis3l2
|
UTSW |
1 |
86745500 |
critical splice donor site |
probably null |
|
|
R8422:Dis3l2
|
UTSW |
1 |
86854377 |
missense |
probably benign |
|
|
R8696:Dis3l2
|
UTSW |
1 |
86791440 |
nonsense |
probably null |
|
|
R9235:Dis3l2
|
UTSW |
1 |
86821339 |
missense |
possibly damaging |
0.95 |
|
R9291:Dis3l2
|
UTSW |
1 |
86973493 |
missense |
possibly damaging |
0.82 |
|
R9629:Dis3l2
|
UTSW |
1 |
87047062 |
missense |
probably benign |
0.00 |
|
X0027:Dis3l2
|
UTSW |
1 |
86760351 |
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 |
Incidental Mutation