Incidental Mutation 'IGL03057:Dis3'
ID |
409258 |
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 # |
IGL03057
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99327426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 359
(M359K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
AlphaFold |
Q9CSH3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042471
AA Change: M359K
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041906 Gene: ENSMUSG00000033166 AA Change: M359K
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 |
probably benign
Transcript: ENSMUST00000227022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
AA Change: M359K
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,754 (GRCm39) |
A1295V |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,106,602 (GRCm39) |
|
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,851,493 (GRCm39) |
Y901N |
probably damaging |
Het |
Bud31 |
A |
G |
5: 145,083,378 (GRCm39) |
T74A |
probably benign |
Het |
C4b |
C |
A |
17: 34,956,738 (GRCm39) |
|
probably benign |
Het |
Ccdc92 |
G |
A |
5: 124,912,753 (GRCm39) |
Q259* |
probably null |
Het |
Ccn4 |
T |
C |
15: 66,763,489 (GRCm39) |
|
probably benign |
Het |
Chfr |
C |
A |
5: 110,291,475 (GRCm39) |
Q98K |
probably benign |
Het |
Ciita |
T |
A |
16: 10,338,823 (GRCm39) |
|
probably benign |
Het |
Cnbd2 |
A |
T |
2: 156,209,592 (GRCm39) |
I512F |
possibly damaging |
Het |
Cpa2 |
A |
G |
6: 30,557,726 (GRCm39) |
Y346C |
probably damaging |
Het |
Cpxm1 |
A |
G |
2: 130,235,109 (GRCm39) |
L570P |
probably damaging |
Het |
Cylc1 |
G |
A |
X: 110,166,370 (GRCm39) |
G217D |
unknown |
Het |
Dennd2a |
T |
C |
6: 39,485,182 (GRCm39) |
I366V |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,545,088 (GRCm39) |
N848S |
probably damaging |
Het |
Dyrk3 |
C |
T |
1: 131,056,815 (GRCm39) |
V453I |
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,206,161 (GRCm39) |
E358G |
probably damaging |
Het |
Fam167b |
C |
A |
4: 129,471,960 (GRCm39) |
C70F |
possibly damaging |
Het |
Flt1 |
G |
T |
5: 147,618,734 (GRCm39) |
Y200* |
probably null |
Het |
Garin4 |
A |
T |
1: 190,895,141 (GRCm39) |
S501T |
probably benign |
Het |
Ggh |
T |
C |
4: 20,065,770 (GRCm39) |
V288A |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,717,586 (GRCm39) |
|
probably benign |
Het |
Gm28042 |
A |
G |
2: 119,862,637 (GRCm39) |
Y302C |
probably damaging |
Het |
Gsta2 |
A |
G |
9: 78,241,192 (GRCm39) |
|
probably benign |
Het |
Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
Irs4 |
A |
G |
X: 140,505,524 (GRCm39) |
S891P |
unknown |
Het |
Kcmf1 |
G |
T |
6: 72,820,010 (GRCm39) |
R330S |
probably benign |
Het |
Kif26a |
G |
T |
12: 112,142,208 (GRCm39) |
E821* |
probably null |
Het |
L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
Met |
A |
T |
6: 17,558,765 (GRCm39) |
D1131V |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,785,342 (GRCm39) |
E1428G |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,813,657 (GRCm39) |
|
probably benign |
Het |
Ogfod1 |
T |
A |
8: 94,782,766 (GRCm39) |
L294H |
possibly damaging |
Het |
Or8d1b |
G |
T |
9: 38,887,514 (GRCm39) |
V181F |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,637,851 (GRCm39) |
I126L |
possibly damaging |
Het |
Pcdhb9 |
A |
T |
18: 37,534,330 (GRCm39) |
Q108L |
probably benign |
Het |
Prdm10 |
G |
T |
9: 31,260,481 (GRCm39) |
R645L |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,236 (GRCm39) |
C151* |
probably null |
Het |
Reep1 |
T |
A |
6: 71,784,765 (GRCm39) |
|
probably benign |
Het |
Reg3a |
G |
A |
6: 78,358,939 (GRCm39) |
A46T |
possibly damaging |
Het |
Rnf213 |
T |
A |
11: 119,331,913 (GRCm39) |
I2374N |
probably damaging |
Het |
Slc17a7 |
T |
C |
7: 44,820,363 (GRCm39) |
Y273H |
probably damaging |
Het |
Smg6 |
T |
A |
11: 74,826,260 (GRCm39) |
Y238* |
probably null |
Het |
Sorcs1 |
T |
A |
19: 50,248,194 (GRCm39) |
K411* |
probably null |
Het |
Spta1 |
G |
T |
1: 174,008,624 (GRCm39) |
A243S |
probably benign |
Het |
Tas2r135 |
A |
T |
6: 42,378,061 (GRCm39) |
|
probably benign |
Het |
Tbx18 |
T |
C |
9: 87,612,882 (GRCm39) |
R6G |
probably damaging |
Het |
Timp3 |
A |
G |
10: 86,136,815 (GRCm39) |
D33G |
possibly damaging |
Het |
Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
Ubr5 |
C |
A |
15: 38,041,150 (GRCm39) |
|
probably benign |
Het |
Ugt2b1 |
A |
G |
5: 87,074,200 (GRCm39) |
V53A |
possibly damaging |
Het |
Ush2a |
G |
T |
1: 188,530,035 (GRCm39) |
G3275W |
probably damaging |
Het |
Usp19 |
G |
A |
9: 108,376,329 (GRCm39) |
V1023M |
probably benign |
Het |
Usp26 |
T |
C |
X: 50,846,135 (GRCm39) |
I47V |
possibly damaging |
Het |
Vapa |
A |
G |
17: 65,901,902 (GRCm39) |
V76A |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,646,058 (GRCm39) |
N1993S |
probably damaging |
Het |
Wdr59 |
G |
A |
8: 112,202,750 (GRCm39) |
R598C |
probably damaging |
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 |
|
IGL02650:Dis3
|
APN |
14 |
99,336,221 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03053:Dis3
|
APN |
14 |
99,336,170 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2016-08-02 |