Incidental Mutation 'R5556:Dis3l2'
| ID |
435361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l2
|
| Ensembl Gene |
ENSMUSG00000053333 |
| Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
| Synonyms |
8030493P09Rik, 4930429A22Rik |
| MMRRC Submission |
043113-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R5556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86901126 bp (GRCm39)
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,066,026 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,208,546 (GRCm39) |
I240F |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,666,428 (GRCm39) |
Y420H |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,773,520 (GRCm39) |
Y20H |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,869 (GRCm39) |
V419A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,746,751 (GRCm39) |
N123K |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,008 (GRCm39) |
|
probably null |
Het |
| Cd164l2 |
T |
A |
4: 132,951,016 (GRCm39) |
V157E |
probably damaging |
Het |
| Cdk11b |
C |
T |
4: 155,718,604 (GRCm39) |
Q185* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,694,074 (GRCm39) |
F470S |
probably benign |
Het |
| Cherp |
C |
G |
8: 73,221,824 (GRCm39) |
Q313H |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,675,773 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cndp2 |
A |
G |
18: 84,690,249 (GRCm39) |
V231A |
probably benign |
Het |
| Cst7 |
A |
T |
2: 150,412,488 (GRCm39) |
H17L |
probably benign |
Het |
| Decr1 |
C |
T |
4: 15,919,244 (GRCm39) |
D300N |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,177,363 (GRCm39) |
V230G |
probably damaging |
Het |
| Disp3 |
C |
T |
4: 148,342,614 (GRCm39) |
G612D |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,832,972 (GRCm39) |
T1962A |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,505,957 (GRCm39) |
F96S |
probably damaging |
Het |
| Fibp |
T |
A |
19: 5,514,227 (GRCm39) |
V304E |
possibly damaging |
Het |
| Flt3 |
T |
A |
5: 147,269,807 (GRCm39) |
|
probably null |
Het |
| Kifc3 |
G |
A |
8: 95,835,087 (GRCm39) |
Q233* |
probably null |
Het |
| Klhl42 |
C |
A |
6: 147,009,610 (GRCm39) |
S483Y |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,762,284 (GRCm39) |
R276* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,292,249 (GRCm39) |
S87P |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,218,664 (GRCm39) |
V416A |
probably benign |
Het |
| Mepe |
G |
A |
5: 104,486,078 (GRCm39) |
G406D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,534,175 (GRCm39) |
L673V |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,267 (GRCm39) |
Y306* |
probably null |
Het |
| Nrxn2 |
C |
A |
19: 6,540,121 (GRCm39) |
A814E |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,398,621 (GRCm39) |
V828I |
probably benign |
Het |
| Or2j3 |
T |
A |
17: 38,615,964 (GRCm39) |
K129N |
possibly damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,728 (GRCm39) |
L66H |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pcare |
T |
C |
17: 72,059,420 (GRCm39) |
K86E |
possibly damaging |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,442 (GRCm39) |
L121Q |
probably damaging |
Het |
| Plekha7 |
G |
A |
7: 115,763,384 (GRCm39) |
T406I |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,758,986 (GRCm39) |
S447P |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,087,054 (GRCm39) |
Y267C |
probably damaging |
Het |
| Rbpjl |
A |
G |
2: 164,249,982 (GRCm39) |
T134A |
probably benign |
Het |
| Relch |
C |
A |
1: 105,620,892 (GRCm39) |
Q456K |
probably benign |
Het |
| Rpe |
C |
A |
1: 66,745,625 (GRCm39) |
T55N |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,155,141 (GRCm39) |
D606G |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,124,463 (GRCm39) |
N1105K |
probably benign |
Het |
| Sh3d21 |
T |
C |
4: 126,056,029 (GRCm39) |
N126D |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 43,993,739 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,716,039 (GRCm39) |
D627V |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,276,336 (GRCm39) |
S1796T |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,344,870 (GRCm39) |
V217I |
probably damaging |
Het |
| Trgc4 |
A |
T |
13: 19,536,477 (GRCm39) |
R178S |
unknown |
Het |
| Tspan10 |
A |
T |
11: 120,335,541 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Usp3 |
G |
A |
9: 66,451,303 (GRCm39) |
T153M |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,204,759 (GRCm39) |
T1067K |
probably benign |
Het |
| Zfp334 |
T |
C |
2: 165,222,504 (GRCm39) |
D513G |
probably benign |
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 |
|
|
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 |
PCR Primer
(F):5'- CTACAAACAGTGACAGTGTTTCTG -3'
(R):5'- CACGGTGCTTACCACAAGAG -3'
Sequencing Primer
(F):5'- TACTTCCCAGGCAGAGCTGAG -3'
(R):5'- CGGTGCTTACCACAAGAGATAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation