Incidental Mutation 'R9235:Dis3l2'
ID |
700398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3l2
|
Ensembl Gene |
ENSMUSG00000053333 |
Gene Name |
DIS3 like 3'-5' exoribonuclease 2 |
Synonyms |
8030493P09Rik, 4930429A22Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.357)
|
Stock # |
R9235 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
86631530-86977817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86749061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 176
(D176N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065694]
[ENSMUST00000168237]
[ENSMUST00000190618]
|
AlphaFold |
Q8CI75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065694
AA Change: D162N
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000070506 Gene: ENSMUSG00000053333 AA Change: D162N
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 |
possibly damaging
Transcript: ENSMUST00000168237
AA Change: D176N
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132673 Gene: ENSMUSG00000053333 AA Change: D176N
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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,623,518 (GRCm39) |
I76N |
possibly damaging |
Het |
4930558K02Rik |
T |
C |
1: 161,780,172 (GRCm39) |
H114R |
possibly damaging |
Het |
C2 |
T |
C |
17: 35,083,845 (GRCm39) |
D414G |
probably damaging |
Het |
Catsper4 |
C |
T |
4: 133,954,606 (GRCm39) |
D15N |
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,318,163 (GRCm39) |
V203A |
probably damaging |
Het |
Cd2 |
A |
G |
3: 101,195,159 (GRCm39) |
F13L |
probably benign |
Het |
Cwf19l1 |
G |
A |
19: 44,113,275 (GRCm39) |
A227V |
probably damaging |
Het |
Dmpk |
T |
G |
7: 18,822,141 (GRCm39) |
N366K |
probably damaging |
Het |
Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,907,987 (GRCm39) |
D4479G |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,833,674 (GRCm39) |
E126V |
probably null |
Het |
Fbxo27 |
T |
A |
7: 28,397,756 (GRCm39) |
Y264* |
probably null |
Het |
Fign |
A |
G |
2: 63,810,907 (GRCm39) |
M121T |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,320,202 (GRCm39) |
Y54C |
possibly damaging |
Het |
Frmd4a |
G |
A |
2: 4,599,366 (GRCm39) |
R460H |
probably damaging |
Het |
Igkv4-53 |
A |
T |
6: 69,626,301 (GRCm39) |
I13N |
possibly damaging |
Het |
Islr |
T |
A |
9: 58,064,944 (GRCm39) |
I188F |
possibly damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,311,218 (GRCm39) |
C54* |
probably null |
Het |
Klrb1b |
A |
G |
6: 128,795,547 (GRCm39) |
F140S |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,504,997 (GRCm39) |
E3437G |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,739,122 (GRCm39) |
L3648I |
probably benign |
Het |
Mlxipl |
C |
A |
5: 135,157,541 (GRCm39) |
T359K |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,659,321 (GRCm39) |
W410R |
probably damaging |
Het |
Mrpl49 |
G |
A |
19: 6,105,147 (GRCm39) |
R105* |
probably null |
Het |
Myom3 |
T |
A |
4: 135,541,653 (GRCm39) |
Y1415N |
probably damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,330,760 (GRCm39) |
Y1100* |
probably null |
Het |
Or14a257 |
A |
T |
7: 86,138,306 (GRCm39) |
V151E |
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,724 (GRCm39) |
I223N |
probably damaging |
Het |
Or5t5 |
T |
C |
2: 86,616,548 (GRCm39) |
I158T |
probably benign |
Het |
Or6c8b |
G |
T |
10: 128,882,051 (GRCm39) |
Q294K |
probably benign |
Het |
Pank1 |
C |
A |
19: 34,856,197 (GRCm39) |
A94S |
probably benign |
Het |
Pikfyve |
C |
A |
1: 65,299,188 (GRCm39) |
T1613K |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,626,554 (GRCm39) |
I352L |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,701 (GRCm39) |
D3412G |
probably damaging |
Het |
Plekhd1 |
T |
A |
12: 80,768,791 (GRCm39) |
Y425N |
possibly damaging |
Het |
Plscr5 |
A |
G |
9: 92,086,417 (GRCm39) |
N129S |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,651,751 (GRCm39) |
M3796K |
probably damaging |
Het |
Psme3 |
A |
T |
11: 101,211,594 (GRCm39) |
E213D |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,233,271 (GRCm39) |
|
probably null |
Het |
Sema5a |
A |
G |
15: 32,619,034 (GRCm39) |
S521G |
probably benign |
Het |
Slc34a2 |
A |
T |
5: 53,226,667 (GRCm39) |
M597L |
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,301,984 (GRCm39) |
R189G |
probably damaging |
Het |
Smyd4 |
G |
A |
11: 75,295,689 (GRCm39) |
E782K |
probably benign |
Het |
Sspo |
T |
A |
6: 48,466,718 (GRCm39) |
C4078S |
probably damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Ttc21a |
G |
T |
9: 119,774,559 (GRCm39) |
R271L |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,045,982 (GRCm39) |
L114P |
|
Het |
Ugt1a2 |
A |
G |
1: 88,128,488 (GRCm39) |
R44G |
possibly damaging |
Het |
Ulk4 |
G |
A |
9: 120,981,217 (GRCm39) |
T907I |
probably benign |
Het |
Unc13a |
G |
T |
8: 72,115,912 (GRCm39) |
L97I |
probably benign |
Het |
Uqcc6 |
A |
T |
10: 82,458,586 (GRCm39) |
C22S |
possibly damaging |
Het |
Vmn1r25 |
A |
G |
6: 57,955,488 (GRCm39) |
L267P |
probably damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,810,238 (GRCm39) |
N341K |
probably damaging |
Het |
Wdr3 |
T |
A |
3: 100,054,023 (GRCm39) |
Q534L |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,397,605 (GRCm39) |
H680L |
probably damaging |
Het |
Zfp986 |
T |
A |
4: 145,625,759 (GRCm39) |
F140I |
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 |
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 |
|
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'- GTCTGTGCATCAGGAGAATAAAGGTC -3'
(R):5'- TTGCAGAGGGAGGTTCCAAC -3'
Sequencing Primer
(F):5'- CAGGCAGTTAAACCAGAGA -3'
(R):5'- GGGAGGTTCCAACTTAAAAACC -3'
|
Posted On |
2022-02-07 |