Incidental Mutation 'IGL02650:Dis3'
| ID |
302107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99336221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 95
(M95K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022650]
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
| AlphaFold |
Q9CSH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022650
|
| SMART Domains |
Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
200 |
364 |
N/A |
INTRINSIC |
|
coiled coil region
|
396 |
444 |
N/A |
INTRINSIC |
|
coiled coil region
|
474 |
553 |
N/A |
INTRINSIC |
|
coiled coil region
|
586 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042471
AA Change: M95K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: M95K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
|
PINc
|
64 |
182 |
2.8e-24 |
SMART |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
RNB
|
467 |
797 |
5.56e-141 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
AA Change: M95K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,881 (GRCm39) |
T586A |
probably benign |
Het |
| Acads |
G |
T |
5: 115,250,874 (GRCm39) |
T141N |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,808,745 (GRCm39) |
R721H |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,672,665 (GRCm39) |
V236A |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,249,869 (GRCm39) |
Q207* |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,789,426 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,384,670 (GRCm39) |
K2537E |
possibly damaging |
Het |
| Cox7a1 |
A |
T |
7: 29,884,562 (GRCm39) |
E32V |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,289,193 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dynlt5 |
C |
A |
4: 102,845,803 (GRCm39) |
Q12K |
probably benign |
Het |
| Ghsr |
A |
T |
3: 27,429,004 (GRCm39) |
Q343L |
probably benign |
Het |
| Gm3252 |
T |
A |
14: 4,746,353 (GRCm38) |
V215E |
probably damaging |
Het |
| Gm9979 |
A |
G |
13: 40,859,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 48,977,331 (GRCm39) |
M867K |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,919 (GRCm39) |
T777A |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,890,886 (GRCm39) |
Q1310L |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,451,492 (GRCm39) |
F205L |
probably damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,617 (GRCm39) |
I40V |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,957,505 (GRCm39) |
D69G |
possibly damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,138 (GRCm39) |
D333G |
probably damaging |
Het |
| Mapre3 |
T |
A |
5: 31,022,053 (GRCm39) |
I187N |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,337 (GRCm39) |
|
probably null |
Het |
| Nanos2 |
C |
T |
7: 18,721,794 (GRCm39) |
P89S |
probably damaging |
Het |
| Or4c109 |
T |
A |
2: 88,818,424 (GRCm39) |
M41L |
probably benign |
Het |
| Parp16 |
G |
A |
9: 65,141,098 (GRCm39) |
V223I |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,947 (GRCm39) |
M231T |
probably benign |
Het |
| Suco |
C |
A |
1: 161,676,322 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,773,584 (GRCm39) |
T459N |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,975,040 (GRCm39) |
Q732* |
probably null |
Het |
| Tas2r102 |
A |
G |
6: 132,739,173 (GRCm39) |
N27S |
probably null |
Het |
| Tll1 |
C |
T |
8: 64,500,031 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,916 (GRCm39) |
I258V |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,535 (GRCm39) |
M783K |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,223 (GRCm39) |
V742I |
probably benign |
Het |
|
| Other mutations in Dis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Dis3
|
APN |
14 |
99,320,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Dis3
|
APN |
14 |
99,328,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00975:Dis3
|
APN |
14 |
99,316,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01536:Dis3
|
APN |
14 |
99,316,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Dis3
|
APN |
14 |
99,335,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02143:Dis3
|
APN |
14 |
99,328,754 (GRCm39) |
splice site |
probably benign |
|
|
IGL02270:Dis3
|
APN |
14 |
99,315,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02354:Dis3
|
APN |
14 |
99,317,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL02361:Dis3
|
APN |
14 |
99,317,148 (GRCm39) |
nonsense |
probably null |
|
|
IGL03053:Dis3
|
APN |
14 |
99,336,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03057:Dis3
|
APN |
14 |
99,327,426 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03389:Dis3
|
APN |
14 |
99,332,783 (GRCm39) |
splice site |
probably benign |
|
|
R0415:Dis3
|
UTSW |
14 |
99,324,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Dis3
|
UTSW |
14 |
99,318,826 (GRCm39) |
splice site |
probably benign |
|
|
R1535:Dis3
|
UTSW |
14 |
99,316,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Dis3
|
UTSW |
14 |
99,323,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Dis3
|
UTSW |
14 |
99,321,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Dis3
|
UTSW |
14 |
99,328,905 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1938:Dis3
|
UTSW |
14 |
99,335,026 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2056:Dis3
|
UTSW |
14 |
99,336,251 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2133:Dis3
|
UTSW |
14 |
99,317,313 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2448:Dis3
|
UTSW |
14 |
99,324,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3407:Dis3
|
UTSW |
14 |
99,336,212 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4052:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4208:Dis3
|
UTSW |
14 |
99,332,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4465:Dis3
|
UTSW |
14 |
99,321,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4612:Dis3
|
UTSW |
14 |
99,328,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4859:Dis3
|
UTSW |
14 |
99,325,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Dis3
|
UTSW |
14 |
99,326,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Dis3
|
UTSW |
14 |
99,336,242 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5335:Dis3
|
UTSW |
14 |
99,335,089 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5409:Dis3
|
UTSW |
14 |
99,323,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5802:Dis3
|
UTSW |
14 |
99,337,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Dis3
|
UTSW |
14 |
99,336,215 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6309:Dis3
|
UTSW |
14 |
99,323,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Dis3
|
UTSW |
14 |
99,324,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Dis3
|
UTSW |
14 |
99,337,042 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7535:Dis3
|
UTSW |
14 |
99,327,415 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7794:Dis3
|
UTSW |
14 |
99,336,233 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8013:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8014:Dis3
|
UTSW |
14 |
99,314,835 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8077:Dis3
|
UTSW |
14 |
99,327,471 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8957:Dis3
|
UTSW |
14 |
99,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9073:Dis3
|
UTSW |
14 |
99,332,647 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9345:Dis3
|
UTSW |
14 |
99,318,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Dis3
|
UTSW |
14 |
99,316,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation