Incidental Mutation 'IGL01607:Dis3l2'
| ID |
92286 |
| 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 # |
IGL01607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86673209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
| 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: T67A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000070506
Gene: ENSMUSG00000053333
AA Change: T67A
| 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: T67A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000132673
Gene: ENSMUSG00000053333
AA Change: T67A
| 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 benign
Transcript: ENSMUST00000190618
AA Change: T67A
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139579
Gene: ENSMUSG00000053333
AA Change: T67A
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
| Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
C |
T |
4: 153,516,736 (GRCm39) |
G202S |
probably damaging |
Het |
| Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
| Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
| Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
| Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
| Neu1 |
A |
T |
17: 35,153,692 (GRCm39) |
N372I |
probably benign |
Het |
| Nuak2 |
G |
A |
1: 132,255,878 (GRCm39) |
V184I |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,524,950 (GRCm39) |
I85V |
probably damaging |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,673,152 (GRCm39) |
C304S |
probably damaging |
Het |
| Stk38l |
T |
C |
6: 146,673,725 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
| Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation