Incidental Mutation 'R5500:Dis3l2'
| ID |
430547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l2
|
| Ensembl Gene |
ENSMUSG00000053333 |
| Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
| Synonyms |
8030493P09Rik, 4930429A22Rik |
| MMRRC Submission |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.357)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 86948841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
| AlphaFold |
Q8CI75 |
| Predicted Effect |
probably null
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 null
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 null
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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
| Evi5l |
T |
A |
8: 4,241,658 (GRCm39) |
M329K |
probably damaging |
Het |
| Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,462,611 (GRCm39) |
I293T |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
| Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,806,526 (GRCm39) |
V107E |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,528 (GRCm39) |
T20A |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
| Rnf111 |
C |
A |
9: 70,383,325 (GRCm39) |
G203C |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
probably null |
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 |
|
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'- GTTTCCACAGCACATCCACTG -3'
(R):5'- GGTTCTCACCTTCCACAGTG -3'
Sequencing Primer
(F):5'- ACTGCAGGGAGCTGACTTG -3'
(R):5'- GGGGTTAAAACTCAGGTCCTTACAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation