Incidental Mutation 'R5802:Dis3'
ID |
448801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3
|
Ensembl Gene |
ENSMUSG00000033166 |
Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
Synonyms |
2810028N01Rik |
MMRRC Submission |
043391-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5802 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99337100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 4
(S4T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154489
(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: S4T
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000041906 Gene: ENSMUSG00000033166 AA Change: S4T
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 damaging
Transcript: ENSMUST00000227022
AA Change: S4T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228279
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228643
AA Change: S4T
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
Meta Mutation Damage Score |
0.2483 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 12,021,188 (GRCm39) |
D383V |
probably damaging |
Het |
AAdacl4fm3 |
T |
A |
4: 144,430,206 (GRCm39) |
D261V |
probably damaging |
Het |
Abca4 |
A |
T |
3: 121,847,881 (GRCm39) |
L67F |
probably damaging |
Het |
Abcc9 |
C |
A |
6: 142,602,402 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
T |
C |
11: 72,863,708 (GRCm39) |
V175A |
probably damaging |
Het |
B3galt4 |
T |
A |
17: 34,169,731 (GRCm39) |
D169V |
probably damaging |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Camkk2 |
T |
C |
5: 122,872,307 (GRCm39) |
E90G |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,365,716 (GRCm39) |
I155N |
probably damaging |
Het |
Cep70 |
A |
G |
9: 99,178,458 (GRCm39) |
N519D |
probably damaging |
Het |
Clgn |
T |
C |
8: 84,152,243 (GRCm39) |
S582P |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,006 (GRCm39) |
F280S |
probably damaging |
Het |
Dennd4c |
C |
T |
4: 86,729,690 (GRCm39) |
T764M |
probably benign |
Het |
Dlgap1 |
T |
C |
17: 71,073,086 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,927,272 (GRCm39) |
V3839I |
possibly damaging |
Het |
Dnajc1 |
A |
G |
2: 18,289,550 (GRCm39) |
Y286H |
probably benign |
Het |
Dynap |
T |
A |
18: 70,374,073 (GRCm39) |
D151V |
unknown |
Het |
Ednrb |
A |
G |
14: 104,059,150 (GRCm39) |
F292S |
probably damaging |
Het |
Eef1a1 |
A |
G |
9: 78,386,318 (GRCm39) |
S396P |
probably damaging |
Het |
Fancg |
A |
G |
4: 43,006,582 (GRCm39) |
F324S |
probably benign |
Het |
Fbxw11 |
T |
A |
11: 32,661,790 (GRCm39) |
S56T |
probably benign |
Het |
Gm17535 |
G |
C |
9: 3,035,758 (GRCm39) |
V209L |
probably benign |
Homo |
Gm5592 |
C |
T |
7: 40,868,529 (GRCm39) |
|
probably benign |
Het |
Gpr137 |
C |
T |
19: 6,919,373 (GRCm39) |
W51* |
probably null |
Het |
H2-T9 |
A |
G |
17: 36,422,179 (GRCm39) |
|
probably benign |
Het |
Hbb-bs |
T |
C |
7: 103,475,879 (GRCm39) |
Y146C |
probably damaging |
Het |
Herc1 |
G |
T |
9: 66,370,160 (GRCm39) |
C2982F |
probably damaging |
Het |
Hnrnpa3 |
T |
A |
2: 75,495,400 (GRCm39) |
N309K |
unknown |
Het |
Hydin |
A |
T |
8: 111,178,692 (GRCm39) |
I1096F |
possibly damaging |
Het |
Klf12 |
A |
G |
14: 100,260,330 (GRCm39) |
V133A |
probably benign |
Het |
Lats2 |
A |
T |
14: 57,931,875 (GRCm39) |
Y848N |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,026,270 (GRCm39) |
T453A |
possibly damaging |
Het |
Ltn1 |
T |
G |
16: 87,212,569 (GRCm39) |
H664P |
probably benign |
Het |
Lypd6 |
C |
T |
2: 50,063,613 (GRCm39) |
T40I |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,311,380 (GRCm39) |
T1817S |
probably benign |
Het |
Nub1 |
A |
C |
5: 24,907,439 (GRCm39) |
Y350S |
possibly damaging |
Het |
Pbp2 |
A |
G |
6: 135,286,874 (GRCm39) |
Y158H |
possibly damaging |
Het |
Ptpru |
C |
T |
4: 131,515,688 (GRCm39) |
E827K |
possibly damaging |
Het |
Rap1a |
A |
G |
3: 105,653,252 (GRCm39) |
Y32H |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,527,832 (GRCm39) |
N1143S |
possibly damaging |
Het |
Rbl1 |
T |
C |
2: 157,003,353 (GRCm39) |
T859A |
probably benign |
Het |
Rom1 |
A |
G |
19: 8,906,188 (GRCm39) |
L117P |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,025,926 (GRCm39) |
|
probably benign |
Het |
Sirpb1c |
T |
C |
3: 15,886,240 (GRCm39) |
M379V |
probably benign |
Het |
Slc6a4 |
C |
T |
11: 76,910,062 (GRCm39) |
T439M |
probably damaging |
Het |
Srsf12 |
G |
T |
4: 33,230,929 (GRCm39) |
R141L |
probably damaging |
Het |
Stk10 |
C |
T |
11: 32,546,748 (GRCm39) |
P335L |
probably benign |
Het |
Tcstv2c |
G |
A |
13: 120,616,449 (GRCm39) |
S96N |
possibly damaging |
Het |
Tecpr1 |
A |
T |
5: 144,143,364 (GRCm39) |
N670K |
probably benign |
Het |
Tgds |
T |
C |
14: 118,370,119 (GRCm39) |
E8G |
probably benign |
Het |
Tmem129 |
A |
G |
5: 33,815,060 (GRCm39) |
S38P |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,557,188 (GRCm39) |
E812G |
probably damaging |
Het |
Trmt10b |
T |
A |
4: 45,314,236 (GRCm39) |
|
probably benign |
Het |
Wapl |
A |
G |
14: 34,414,277 (GRCm39) |
T380A |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,255,914 (GRCm39) |
T829S |
probably benign |
Het |
Zc3h6 |
C |
T |
2: 128,857,479 (GRCm39) |
P666L |
possibly damaging |
Het |
Zfp1010 |
T |
C |
2: 176,957,049 (GRCm39) |
T150A |
possibly damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATTGGTGTCCGGCAGAAG -3'
(R):5'- CTGTAGTCCAGAGGAAAGCC -3'
Sequencing Primer
(F):5'- TGTCCGGCAGAAGGTAGTGC -3'
(R):5'- CAGAGGAAAGCCCCGCC -3'
|
Posted On |
2016-12-15 |