Incidental Mutation 'R6921:Dis3l2'
| ID |
539619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l2
|
| Ensembl Gene |
ENSMUSG00000053333 |
| Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
| Synonyms |
4930429A22Rik, 8030493P09Rik |
| MMRRC Submission |
045006-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R6921 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
86703808-87050095 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86857341 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 318
(I318T)
|
| 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: I304T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: I304T
| 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: I318T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: I318T
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
96% (46/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,258,736 (GRCm38) |
H118Q |
probably damaging |
Het |
| Adgrl3 |
T |
G |
5: 81,648,713 (GRCm38) |
V623G |
probably damaging |
Het |
| B9d2 |
A |
G |
7: 25,686,017 (GRCm38) |
D84G |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,428,864 (GRCm38) |
L268H |
probably damaging |
Het |
| Copa |
A |
T |
1: 172,111,924 (GRCm38) |
N576I |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,840,949 (GRCm38) |
T88A |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,130,654 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
C |
A |
11: 118,041,484 (GRCm38) |
A3639S |
probably damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,544,720 (GRCm38) |
I89N |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,102,549 (GRCm38) |
H377L |
probably benign |
Het |
| Elmsan1 |
A |
G |
12: 84,156,459 (GRCm38) |
S890P |
probably damaging |
Het |
| Erfe |
T |
A |
1: 91,370,332 (GRCm38) |
I212N |
probably benign |
Het |
| Fam117b |
A |
G |
1: 59,952,935 (GRCm38) |
T248A |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,044,849 (GRCm38) |
N595K |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,601,582 (GRCm38) |
M122K |
probably damaging |
Het |
| Gm4070 |
G |
A |
7: 105,901,980 (GRCm38) |
Q622* |
probably null |
Het |
| Gpr15 |
C |
T |
16: 58,717,781 (GRCm38) |
R315H |
probably benign |
Het |
| H6pd |
T |
C |
4: 149,982,051 (GRCm38) |
D626G |
probably damaging |
Het |
| Hexdc |
A |
G |
11: 121,222,281 (GRCm38) |
D514G |
probably damaging |
Het |
| Hoxd4 |
T |
C |
2: 74,728,492 (GRCm38) |
S220P |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,396,260 (GRCm38) |
H311R |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 108,024,435 (GRCm38) |
T70A |
probably damaging |
Het |
| Lipt2 |
T |
C |
7: 100,160,371 (GRCm38) |
C222R |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,901,032 (GRCm38) |
D190V |
probably damaging |
Het |
| March10 |
T |
C |
11: 105,389,777 (GRCm38) |
T561A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,000,935 (GRCm38) |
T463I |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,881,677 (GRCm38) |
L52P |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,303,485 (GRCm38) |
N2218S |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm38) |
P80L |
probably benign |
Het |
| Nrip1 |
C |
T |
16: 76,292,588 (GRCm38) |
G694R |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,435,945 (GRCm38) |
C197S |
probably damaging |
Het |
| Olfr1042 |
C |
T |
2: 86,159,852 (GRCm38) |
V173M |
probably benign |
Het |
| Olfr904 |
A |
G |
9: 38,464,247 (GRCm38) |
I69V |
probably benign |
Het |
| Otol1 |
A |
G |
3: 70,028,100 (GRCm38) |
E475G |
possibly damaging |
Het |
| Pes1 |
T |
C |
11: 3,973,330 (GRCm38) |
F168L |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,707,734 (GRCm38) |
R780H |
possibly damaging |
Het |
| Pxdn |
C |
G |
12: 30,015,505 (GRCm38) |
P1275A |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,526,289 (GRCm38) |
E218G |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,991,208 (GRCm38) |
N437K |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,735,188 (GRCm38) |
S155P |
probably damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,051,896 (GRCm38) |
M690V |
probably benign |
Het |
| Tmem151a |
A |
T |
19: 5,083,091 (GRCm38) |
L29Q |
probably damaging |
Het |
| Tmprss2 |
A |
G |
16: 97,568,437 (GRCm38) |
I379T |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,540,898 (GRCm38) |
V60E |
probably damaging |
Het |
| Vmn2r73 |
A |
C |
7: 85,858,238 (GRCm38) |
V622G |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,210,646 (GRCm38) |
H880R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 108,951,392 (GRCm38) |
T3025A |
possibly 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 |
|
R5272:Dis3l2
|
UTSW |
1 |
86,973,404 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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'- GCAACTGGCATCCTGAAACTC -3'
(R):5'- TGTTTGCCTGGTAATCCAAGACATC -3'
Sequencing Primer
(F):5'- CTCTTGGCTGATAAGAACAGTGACC -3'
(R):5'- ACATCTATAGGTGACCTATGGGC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation