Incidental Mutation 'IGL00492:Dis3'
| ID |
5860 |
| 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 # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99320110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 649
(I649T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000228643]
|
| AlphaFold |
Q9CSH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042471
AA Change: I649T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: I649T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228756
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
| Braf |
A |
T |
6: 39,637,933 (GRCm39) |
|
probably null |
Het |
| Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
| Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,153,723 (GRCm39) |
Y223C |
probably damaging |
Het |
| Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
| Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,628 (GRCm39) |
|
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
| Psg20 |
T |
C |
7: 18,408,536 (GRCm39) |
T395A |
possibly damaging |
Het |
| Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,381 (GRCm39) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
Het |
|
| Other mutations in Dis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation