Incidental Mutation 'IGL02698:Dis3l2'
ID |
304044 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dis3l2
|
Ensembl Gene |
ENSMUSG00000053333 |
Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
Synonyms |
8030493P09Rik, 4930429A22Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
IGL02698
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 86976551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139579
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
AlphaFold |
Q8CI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065694
|
SMART Domains |
Protein: ENSMUSP00000070506 Gene: ENSMUSG00000053333
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
|
SMART Domains |
Protein: ENSMUSP00000132673 Gene: ENSMUSG00000053333
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpp21 |
T |
A |
9: 112,014,812 (GRCm39) |
|
probably benign |
Het |
Car8 |
A |
T |
4: 8,185,598 (GRCm39) |
I186N |
probably benign |
Het |
Ccdc174 |
G |
A |
6: 91,867,834 (GRCm39) |
S183N |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,212,749 (GRCm39) |
K525* |
probably null |
Het |
Cebpz |
A |
G |
17: 79,243,003 (GRCm39) |
V217A |
probably benign |
Het |
Cfap36 |
C |
A |
11: 29,197,014 (GRCm39) |
|
probably null |
Het |
Cpne4 |
T |
C |
9: 104,909,984 (GRCm39) |
V527A |
probably damaging |
Het |
Crh |
T |
G |
3: 19,748,354 (GRCm39) |
D96A |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcp1a |
A |
T |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,842,663 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
C |
9: 86,406,412 (GRCm39) |
|
probably benign |
Het |
Etv3 |
A |
G |
3: 87,443,885 (GRCm39) |
T490A |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,787,158 (GRCm39) |
T531A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,476,201 (GRCm39) |
A1749V |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 26,063,624 (GRCm39) |
L761* |
probably null |
Het |
Gcc2 |
A |
G |
10: 58,107,112 (GRCm39) |
K683E |
possibly damaging |
Het |
Gm5117 |
C |
T |
8: 32,229,767 (GRCm39) |
|
noncoding transcript |
Het |
Hif1a |
T |
C |
12: 73,977,545 (GRCm39) |
|
probably null |
Het |
Inha |
A |
G |
1: 75,486,527 (GRCm39) |
E274G |
probably damaging |
Het |
Itih2 |
G |
T |
2: 10,135,312 (GRCm39) |
P26H |
probably damaging |
Het |
Kif23 |
G |
A |
9: 61,832,283 (GRCm39) |
T620I |
possibly damaging |
Het |
Klhl30 |
T |
C |
1: 91,281,429 (GRCm39) |
F10S |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,278,118 (GRCm39) |
|
probably benign |
Het |
Lmf2 |
A |
C |
15: 89,238,357 (GRCm39) |
L174R |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,900,894 (GRCm39) |
L2216P |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,384,877 (GRCm39) |
L257F |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
Nfasc |
A |
G |
1: 132,562,475 (GRCm39) |
V100A |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 56,998,172 (GRCm39) |
F535S |
probably damaging |
Het |
Ntn4 |
G |
T |
10: 93,480,521 (GRCm39) |
A45S |
probably benign |
Het |
Or2y1c |
T |
A |
11: 49,361,690 (GRCm39) |
F237L |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,815 (GRCm39) |
I43F |
probably damaging |
Het |
Or52a20 |
T |
C |
7: 103,366,485 (GRCm39) |
V228A |
probably damaging |
Het |
Or5w17 |
T |
A |
2: 87,584,188 (GRCm39) |
K50* |
probably null |
Het |
Or8c9 |
A |
G |
9: 38,241,506 (GRCm39) |
T208A |
probably benign |
Het |
Pappa |
A |
T |
4: 65,099,257 (GRCm39) |
E592V |
probably damaging |
Het |
Pate10 |
T |
C |
9: 35,652,416 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,109,032 (GRCm39) |
I1630N |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,199,185 (GRCm39) |
D1997G |
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,295,312 (GRCm39) |
S235T |
probably damaging |
Het |
S1pr1 |
T |
A |
3: 115,505,746 (GRCm39) |
K283* |
probably null |
Het |
Scn5a |
T |
A |
9: 119,350,163 (GRCm39) |
T904S |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,495,643 (GRCm39) |
L30P |
possibly damaging |
Het |
Slc26a7 |
A |
C |
4: 14,593,867 (GRCm39) |
S83A |
possibly damaging |
Het |
Slco1a6 |
C |
A |
6: 142,048,737 (GRCm39) |
G348* |
probably null |
Het |
Srgap3 |
C |
T |
6: 112,723,889 (GRCm39) |
V524I |
probably damaging |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,688 (GRCm39) |
|
noncoding transcript |
Het |
Sv2b |
C |
T |
7: 74,790,726 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,779,559 (GRCm39) |
I663T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,775,115 (GRCm39) |
V1976L |
probably damaging |
Het |
Uqcrc1 |
T |
C |
9: 108,777,011 (GRCm39) |
|
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |