Incidental Mutation 'R6310:Dis3l'
| ID |
509546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| MMRRC Submission |
044414-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R6310 (G1)
|
| Quality Score |
178.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64229857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 274
(V274G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
|
| AlphaFold |
Q8C0S1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068367
AA Change: V191G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113890
AA Change: V191G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120760
AA Change: V191G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: V191G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168844
AA Change: V274G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: V274G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3'-5' exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
| Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
| Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,156,549 (GRCm39) |
I308T |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
| Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
| Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
| Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
| Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
| Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,704,435 (GRCm39) |
T779A |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
| Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
| Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
| Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
| Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,844,212 (GRCm39) |
D25G |
possibly damaging |
Het |
| Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
probably benign |
Het |
|
| Other mutations in Dis3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Dis3l
|
APN |
9 |
64,226,536 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01812:Dis3l
|
APN |
9 |
64,217,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01838:Dis3l
|
APN |
9 |
64,215,581 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02104:Dis3l
|
APN |
9 |
64,217,611 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02478:Dis3l
|
APN |
9 |
64,222,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02481:Dis3l
|
APN |
9 |
64,226,362 (GRCm39) |
splice site |
probably null |
|
|
IGL02483:Dis3l
|
APN |
9 |
64,226,362 (GRCm39) |
splice site |
probably null |
|
|
IGL02965:Dis3l
|
APN |
9 |
64,217,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03139:Dis3l
|
APN |
9 |
64,219,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03054:Dis3l
|
UTSW |
9 |
64,217,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0066:Dis3l
|
UTSW |
9 |
64,226,447 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0066:Dis3l
|
UTSW |
9 |
64,226,447 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0724:Dis3l
|
UTSW |
9 |
64,214,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0801:Dis3l
|
UTSW |
9 |
64,226,436 (GRCm39) |
missense |
probably benign |
|
|
R0925:Dis3l
|
UTSW |
9 |
64,248,412 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R1502:Dis3l
|
UTSW |
9 |
64,233,069 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1541:Dis3l
|
UTSW |
9 |
64,214,771 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1794:Dis3l
|
UTSW |
9 |
64,225,058 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1929:Dis3l
|
UTSW |
9 |
64,238,165 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2007:Dis3l
|
UTSW |
9 |
64,215,558 (GRCm39) |
splice site |
probably null |
|
|
R2062:Dis3l
|
UTSW |
9 |
64,246,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2152:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2154:Dis3l
|
UTSW |
9 |
64,214,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2186:Dis3l
|
UTSW |
9 |
64,246,894 (GRCm39) |
nonsense |
probably null |
|
|
R2271:Dis3l
|
UTSW |
9 |
64,238,165 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2280:Dis3l
|
UTSW |
9 |
64,225,076 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2287:Dis3l
|
UTSW |
9 |
64,214,779 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3156:Dis3l
|
UTSW |
9 |
64,219,032 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4664:Dis3l
|
UTSW |
9 |
64,238,080 (GRCm39) |
missense |
unknown |
|
|
R4775:Dis3l
|
UTSW |
9 |
64,238,190 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4977:Dis3l
|
UTSW |
9 |
64,214,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4997:Dis3l
|
UTSW |
9 |
64,219,224 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5097:Dis3l
|
UTSW |
9 |
64,226,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Dis3l
|
UTSW |
9 |
64,238,117 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5623:Dis3l
|
UTSW |
9 |
64,214,885 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6442:Dis3l
|
UTSW |
9 |
64,214,837 (GRCm39) |
missense |
probably benign |
|
|
R6505:Dis3l
|
UTSW |
9 |
64,214,795 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6731:Dis3l
|
UTSW |
9 |
64,217,720 (GRCm39) |
splice site |
probably null |
|
|
R7008:Dis3l
|
UTSW |
9 |
64,217,735 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7405:Dis3l
|
UTSW |
9 |
64,221,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Dis3l
|
UTSW |
9 |
64,219,219 (GRCm39) |
nonsense |
probably null |
|
|
R7798:Dis3l
|
UTSW |
9 |
64,248,299 (GRCm39) |
missense |
probably benign |
|
|
R7890:Dis3l
|
UTSW |
9 |
64,229,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Dis3l
|
UTSW |
9 |
64,219,112 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8715:Dis3l
|
UTSW |
9 |
64,214,342 (GRCm39) |
missense |
probably benign |
|
|
R8942:Dis3l
|
UTSW |
9 |
64,214,875 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8973:Dis3l
|
UTSW |
9 |
64,246,824 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9189:Dis3l
|
UTSW |
9 |
64,217,731 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9240:Dis3l
|
UTSW |
9 |
64,217,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9354:Dis3l
|
UTSW |
9 |
64,221,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9394:Dis3l
|
UTSW |
9 |
64,225,017 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9569:Dis3l
|
UTSW |
9 |
64,236,829 (GRCm39) |
missense |
unknown |
|
|
X0020:Dis3l
|
UTSW |
9 |
64,233,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Dis3l
|
UTSW |
9 |
64,214,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTCCTGATGGGCTCACC -3'
(R):5'- GCGATACTTTTGGAGGCCAG -3'
Sequencing Primer
(F):5'- CTGATGGGCTCACCTGTGG -3'
(R):5'- ACAAAGCATGCTGAGCTGTCTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation