Incidental Mutation 'R5010:Dis3l2'
ID |
390407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l2
|
Ensembl Gene |
ENSMUSG00000053333 |
Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
Synonyms |
8030493P09Rik, 4930429A22Rik |
MMRRC Submission |
042601-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R5010 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86688043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 100
(V100I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
AlphaFold |
Q8CI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065694
AA Change: V100I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070506 Gene: ENSMUSG00000053333 AA Change: V100I
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: V100I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132673 Gene: ENSMUSG00000053333 AA Change: V100I
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 |
noncoding transcript
Transcript: ENSMUST00000190273
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190618
AA Change: V100I
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139579 Gene: ENSMUSG00000053333 AA Change: V100I
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 |
0.0759 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
98% (65/66) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
C |
T |
11: 58,313,630 (GRCm39) |
A86V |
possibly damaging |
Het |
9430097D07Rik |
A |
G |
2: 32,464,440 (GRCm39) |
|
probably benign |
Het |
Actr5 |
T |
A |
2: 158,477,283 (GRCm39) |
D411E |
probably benign |
Het |
Ang5 |
A |
G |
14: 44,200,302 (GRCm39) |
D122G |
probably benign |
Het |
Atg9a |
A |
T |
1: 75,162,704 (GRCm39) |
|
probably null |
Het |
Cracd |
G |
C |
5: 76,805,681 (GRCm39) |
|
probably benign |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ddx11 |
G |
A |
17: 66,454,717 (GRCm39) |
V642M |
possibly damaging |
Het |
Echdc2 |
T |
C |
4: 108,029,328 (GRCm39) |
V111A |
probably benign |
Het |
Egr1 |
A |
G |
18: 34,996,711 (GRCm39) |
T498A |
probably benign |
Het |
Exosc3 |
T |
C |
4: 45,317,702 (GRCm39) |
K200R |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,644 (GRCm39) |
D229G |
probably benign |
Het |
Ext1 |
T |
A |
15: 52,955,808 (GRCm39) |
I430F |
probably damaging |
Het |
Fbxw22 |
T |
C |
9: 109,232,492 (GRCm39) |
N31S |
probably benign |
Het |
Gja8 |
T |
C |
3: 96,827,165 (GRCm39) |
T166A |
probably benign |
Het |
Gm21814 |
T |
A |
6: 149,485,116 (GRCm39) |
|
noncoding transcript |
Het |
Gm21915 |
T |
A |
9: 40,581,944 (GRCm39) |
H12Q |
probably benign |
Het |
Hgsnat |
G |
A |
8: 26,437,988 (GRCm39) |
R527* |
probably null |
Het |
Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
Jchain |
T |
C |
5: 88,670,364 (GRCm39) |
H85R |
probably damaging |
Het |
Kcnb2 |
T |
C |
1: 15,383,186 (GRCm39) |
C171R |
probably benign |
Het |
Kcnk3 |
C |
A |
5: 30,780,149 (GRCm39) |
R400S |
possibly damaging |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Lrrfip2 |
T |
C |
9: 111,053,040 (GRCm39) |
I375T |
possibly damaging |
Het |
Mccc1 |
T |
C |
3: 36,033,166 (GRCm39) |
N326S |
probably benign |
Het |
Med13l |
T |
C |
5: 118,731,615 (GRCm39) |
V97A |
possibly damaging |
Het |
Mertk |
C |
A |
2: 128,625,920 (GRCm39) |
T685K |
probably benign |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,133,310 (GRCm39) |
V401M |
probably damaging |
Het |
Nme5 |
A |
C |
18: 34,711,738 (GRCm39) |
M1R |
probably null |
Het |
Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
Notch1 |
A |
T |
2: 26,366,126 (GRCm39) |
D809E |
possibly damaging |
Het |
Or14c39 |
T |
C |
7: 86,343,793 (GRCm39) |
I43T |
possibly damaging |
Het |
Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
Prss23 |
T |
A |
7: 89,159,422 (GRCm39) |
M216L |
probably benign |
Het |
Psg18 |
A |
T |
7: 18,083,279 (GRCm39) |
V171D |
probably damaging |
Het |
Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
Qser1 |
T |
C |
2: 104,618,176 (GRCm39) |
N879D |
possibly damaging |
Het |
Rpap1 |
T |
C |
2: 119,600,522 (GRCm39) |
N879S |
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,415,926 (GRCm39) |
S411P |
probably damaging |
Het |
Rxfp2 |
T |
A |
5: 149,990,825 (GRCm39) |
W519R |
probably damaging |
Het |
Scpep1 |
T |
A |
11: 88,832,175 (GRCm39) |
Q185L |
probably benign |
Het |
Serpinb11 |
A |
G |
1: 107,307,379 (GRCm39) |
N270S |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,855,427 (GRCm39) |
M367K |
probably benign |
Het |
Skint10 |
T |
G |
4: 112,584,869 (GRCm39) |
I213L |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,403,734 (GRCm39) |
T1163A |
unknown |
Het |
Slamf9 |
A |
T |
1: 172,303,780 (GRCm39) |
I42L |
possibly damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,330 (GRCm39) |
|
probably benign |
Het |
Smad6 |
T |
A |
9: 63,861,182 (GRCm39) |
Q371L |
possibly damaging |
Het |
Snx31 |
A |
T |
15: 36,555,469 (GRCm39) |
V26E |
probably damaging |
Het |
Spata31e5 |
A |
G |
1: 28,816,943 (GRCm39) |
I363T |
possibly damaging |
Het |
Taf4b |
A |
G |
18: 14,955,229 (GRCm39) |
N594S |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,918 (GRCm39) |
S172P |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,438 (GRCm39) |
Y156* |
probably null |
Het |
Tbc1d20 |
G |
A |
2: 152,135,856 (GRCm39) |
|
probably benign |
Het |
Timm50 |
A |
T |
7: 28,006,284 (GRCm39) |
D272E |
probably benign |
Het |
Ttn |
T |
G |
2: 76,730,855 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,823,661 (GRCm39) |
F1362I |
probably benign |
Het |
Vwf |
T |
C |
6: 125,543,220 (GRCm39) |
S154P |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,681,410 (GRCm39) |
R844G |
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 |
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 |
PCR Primer
(F):5'- GCCTCAGCTAGTCTGTTCTTAGG -3'
(R):5'- GACTTCAAATCCCCATTGAATAGC -3'
Sequencing Primer
(F):5'- TGGGACTTGAACTCAGGACCTTC -3'
(R):5'- TGAATAGCCTTATTCACAGGCAAAAC -3'
|
Posted On |
2016-06-06 |