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 |
4930429A22Rik, 8030493P09Rik |
| MMRRC Submission |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.349)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
86703808-87050095 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 87021119 bp (GRCm38)
|
| 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: 77,303,389 (GRCm38) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 35,100,638 (GRCm38) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,562,722 (GRCm38) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,314,311 (GRCm38) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 61,950,451 (GRCm38) |
K303E |
probably benign |
Het |
| Evi5l |
T |
A |
8: 4,191,658 (GRCm38) |
M329K |
probably damaging |
Het |
| Fam169b |
A |
G |
7: 68,350,369 (GRCm38) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,471,124 (GRCm38) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,635,042 (GRCm38) |
I293T |
probably damaging |
Het |
| Gm4951 |
G |
A |
18: 60,246,020 (GRCm38) |
R209H |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,268,687 (GRCm38) |
H463R |
possibly damaging |
Het |
| Kank1 |
A |
T |
19: 25,424,332 (GRCm38) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,725,980 (GRCm38) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,759,644 (GRCm38) |
|
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,915,700 (GRCm38) |
V107E |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,683,529 (GRCm38) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,173,111 (GRCm38) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,936,347 (GRCm38) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,456,764 (GRCm38) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm38) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,162,067 (GRCm38) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,917,054 (GRCm38) |
I697T |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 100,268,133 (GRCm38) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,145,284 (GRCm38) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,705,578 (GRCm38) |
|
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 25,836,554 (GRCm38) |
T20A |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,858,315 (GRCm38) |
Y156H |
probably benign |
Het |
| Rnf111 |
C |
A |
9: 70,476,043 (GRCm38) |
G203C |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,377,495 (GRCm38) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,665,137 (GRCm38) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,933,222 (GRCm38) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,785 (GRCm38) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 73,050,347 (GRCm38) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,023,268 (GRCm38) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 64,927,098 (GRCm38) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,131,774 (GRCm38) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm38) |
V1330A |
probably damaging |
Het |
| Wdyhv1 |
T |
C |
15: 58,152,610 (GRCm38) |
V85A |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,901,982 (GRCm38) |
Y257* |
probably null |
Het |
|
| Other mutations in Dis3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Dis3l2
|
APN |
1 |
86,857,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01607:Dis3l2
|
APN |
1 |
86,745,487 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02233:Dis3l2
|
APN |
1 |
86,990,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02698:Dis3l2
|
APN |
1 |
87,048,829 (GRCm38) |
splice site |
probably benign |
|
|
R0514:Dis3l2
|
UTSW |
1 |
87,047,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0893:Dis3l2
|
UTSW |
1 |
87,044,206 (GRCm38) |
splice site |
probably null |
|
|
R1086:Dis3l2
|
UTSW |
1 |
86,990,149 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1140:Dis3l2
|
UTSW |
1 |
86,821,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1509:Dis3l2
|
UTSW |
1 |
87,021,086 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2029:Dis3l2
|
UTSW |
1 |
86,854,467 (GRCm38) |
splice site |
probably benign |
|
|
R2511:Dis3l2
|
UTSW |
1 |
86,990,258 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3772:Dis3l2
|
UTSW |
1 |
86,854,408 (GRCm38) |
missense |
probably benign |
|
|
R4163:Dis3l2
|
UTSW |
1 |
86,821,237 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4547:Dis3l2
|
UTSW |
1 |
87,049,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4548:Dis3l2
|
UTSW |
1 |
87,049,671 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4650:Dis3l2
|
UTSW |
1 |
86,990,321 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4810:Dis3l2
|
UTSW |
1 |
87,047,574 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4936:Dis3l2
|
UTSW |
1 |
87,044,168 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5010:Dis3l2
|
UTSW |
1 |
86,760,321 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5040:Dis3l2
|
UTSW |
1 |
86,857,337 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5272:Dis3l2
|
UTSW |
1 |
86,973,404 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5556:Dis3l2
|
UTSW |
1 |
86,973,404 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5772:Dis3l2
|
UTSW |
1 |
86,878,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5808:Dis3l2
|
UTSW |
1 |
87,049,638 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5950:Dis3l2
|
UTSW |
1 |
87,021,108 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6328:Dis3l2
|
UTSW |
1 |
86,854,431 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6553:Dis3l2
|
UTSW |
1 |
86,745,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6585:Dis3l2
|
UTSW |
1 |
86,745,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6905:Dis3l2
|
UTSW |
1 |
87,044,839 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6921:Dis3l2
|
UTSW |
1 |
86,857,341 (GRCm38) |
missense |
probably benign |
|
|
R7162:Dis3l2
|
UTSW |
1 |
87,044,030 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7270:Dis3l2
|
UTSW |
1 |
86,990,303 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7438:Dis3l2
|
UTSW |
1 |
86,745,500 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8422:Dis3l2
|
UTSW |
1 |
86,854,377 (GRCm38) |
missense |
probably benign |
|
|
R8696:Dis3l2
|
UTSW |
1 |
86,791,440 (GRCm38) |
nonsense |
probably null |
|
|
R9235:Dis3l2
|
UTSW |
1 |
86,821,339 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9291:Dis3l2
|
UTSW |
1 |
86,973,493 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9629:Dis3l2
|
UTSW |
1 |
87,047,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0027:Dis3l2
|
UTSW |
1 |
86,760,351 (GRCm38) |
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