Incidental Mutation 'IGL03139:Dis3l'
| ID |
410633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dis3l
|
| Ensembl Gene |
ENSMUSG00000032396 |
| Gene Name |
DIS3 like exosome 3'-5' exoribonuclease |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.353)
|
| Stock # |
IGL03139
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64214038-64248570 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64219232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 566
(D566V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068367]
[ENSMUST00000113890]
[ENSMUST00000120760]
[ENSMUST00000168844]
|
| AlphaFold |
Q8C0S1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068367
AA Change: D483V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063830
Gene: ENSMUSG00000032396
AA Change: D483V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113890
AA Change: D483V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109522
Gene: ENSMUSG00000032396
AA Change: D483V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120760
AA Change: D483V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113503
Gene: ENSMUSG00000032396
AA Change: D483V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
125 |
137 |
N/A |
INTRINSIC |
|
RNB
|
382 |
734 |
4.82e-127 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168844
AA Change: D566V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129772
Gene: ENSMUSG00000032396
AA Change: D566V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
RNB
|
465 |
817 |
4.82e-127 |
SMART |
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,391,067 (GRCm39) |
F97L |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,764,145 (GRCm39) |
Y928C |
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,052,994 (GRCm38) |
V144A |
probably damaging |
Het |
| Baiap2l2 |
T |
A |
15: 79,155,753 (GRCm39) |
N107I |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,842,924 (GRCm39) |
K657E |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,961,547 (GRCm39) |
|
probably null |
Het |
| Cma2 |
A |
G |
14: 56,211,256 (GRCm39) |
I183V |
probably damaging |
Het |
| Col18a1 |
C |
A |
10: 76,949,177 (GRCm39) |
A112S |
possibly damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,446 (GRCm39) |
D100G |
possibly damaging |
Het |
| Defb29 |
T |
C |
2: 152,380,812 (GRCm39) |
K66E |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,832,955 (GRCm39) |
R161L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,836,422 (GRCm39) |
L436F |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,731,776 (GRCm39) |
I254V |
possibly damaging |
Het |
| Gid8 |
C |
A |
2: 180,356,501 (GRCm39) |
A46E |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,618,649 (GRCm39) |
Q398K |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Iigp1c |
T |
C |
18: 60,379,221 (GRCm39) |
V252A |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,784,480 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,683 (GRCm39) |
S166P |
probably damaging |
Het |
| Map2k6 |
A |
T |
11: 110,387,299 (GRCm39) |
|
probably benign |
Het |
| Mmab |
A |
G |
5: 114,571,405 (GRCm39) |
L157P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,324 (GRCm39) |
E535V |
probably damaging |
Het |
| Mup4 |
T |
C |
4: 59,958,482 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
G |
6: 90,997,221 (GRCm39) |
S820P |
probably benign |
Het |
| Or52b4 |
A |
G |
7: 102,184,517 (GRCm39) |
K188E |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,242,222 (GRCm39) |
I963V |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,590,049 (GRCm39) |
|
probably null |
Het |
| Plscr1 |
T |
C |
9: 92,148,438 (GRCm39) |
|
probably benign |
Het |
| Prss36 |
C |
T |
7: 127,532,783 (GRCm39) |
G202E |
probably damaging |
Het |
| Psen2 |
A |
T |
1: 180,068,350 (GRCm39) |
V101E |
probably damaging |
Het |
| Saxo1 |
T |
C |
4: 86,405,999 (GRCm39) |
M67V |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,807,728 (GRCm39) |
M42I |
probably damaging |
Het |
| Strn3 |
C |
A |
12: 51,699,633 (GRCm39) |
|
probably benign |
Het |
| Tgfb1i1 |
C |
A |
7: 127,848,476 (GRCm39) |
P197Q |
possibly damaging |
Het |
| Thsd4 |
A |
G |
9: 59,904,456 (GRCm39) |
V580A |
probably benign |
Het |
| Tjp1 |
C |
A |
7: 64,990,182 (GRCm39) |
|
probably benign |
Het |
| Tprn |
C |
T |
2: 25,154,066 (GRCm39) |
A456V |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,945,727 (GRCm39) |
Y763H |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,601,507 (GRCm39) |
T18686A |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,332,722 (GRCm39) |
T71S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,831,742 (GRCm39) |
Y349F |
probably benign |
Het |
| Zbtb41 |
A |
G |
1: 139,351,576 (GRCm39) |
T230A |
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 |
|
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 |
|
R6310:Dis3l
|
UTSW |
9 |
64,229,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation