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 |
99075206-99099770 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99099664 bp (GRCm38)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000228354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228643
AA Change: S4T
PolyPhen 2
Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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: 11,950,964 (GRCm38) |
D383V |
probably damaging |
Het |
| AAdacl4fm3 |
T |
A |
4: 144,703,636 (GRCm38) |
D261V |
probably damaging |
Het |
| Abca4 |
A |
T |
3: 122,054,232 (GRCm38) |
L67F |
probably damaging |
Het |
| Abcc9 |
C |
A |
6: 142,656,676 (GRCm38) |
|
probably null |
Het |
| Atp2a3 |
T |
C |
11: 72,972,882 (GRCm38) |
V175A |
probably damaging |
Het |
| B3galt4 |
T |
A |
17: 33,950,757 (GRCm38) |
D169V |
probably damaging |
Het |
| Bsn |
C |
T |
9: 108,113,009 (GRCm38) |
R1848Q |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,734,244 (GRCm38) |
E90G |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,454,420 (GRCm38) |
I155N |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,296,405 (GRCm38) |
N519D |
probably damaging |
Het |
| Clgn |
T |
C |
8: 83,425,614 (GRCm38) |
S582P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,260,925 (GRCm38) |
F280S |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,811,453 (GRCm38) |
T764M |
probably benign |
Het |
| Dlgap1 |
T |
C |
17: 70,766,091 (GRCm38) |
|
probably null |
Het |
| Dnah17 |
C |
T |
11: 118,036,446 (GRCm38) |
V3839I |
possibly damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,284,739 (GRCm38) |
Y286H |
probably benign |
Het |
| Dynap |
T |
A |
18: 70,241,002 (GRCm38) |
D151V |
unknown |
Het |
| Ednrb |
A |
G |
14: 103,821,714 (GRCm38) |
F292S |
probably damaging |
Het |
| Eef1a1 |
A |
G |
9: 78,479,036 (GRCm38) |
S396P |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,006,582 (GRCm38) |
F324S |
probably benign |
Het |
| Fbxw11 |
T |
A |
11: 32,711,790 (GRCm38) |
S56T |
probably benign |
Het |
| Gm17535 |
G |
C |
9: 3,035,758 (GRCm38) |
V209L |
probably benign |
Homo |
| Gm5592 |
C |
T |
7: 41,219,105 (GRCm38) |
|
probably benign |
Het |
| Gm7030 |
A |
G |
17: 36,111,287 (GRCm38) |
|
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,942,005 (GRCm38) |
W51* |
probably null |
Het |
| Hbb-bs |
T |
C |
7: 103,826,672 (GRCm38) |
Y146C |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,462,878 (GRCm38) |
C2982F |
probably damaging |
Het |
| Hnrnpa3 |
T |
A |
2: 75,665,056 (GRCm38) |
N309K |
unknown |
Het |
| Hydin |
A |
T |
8: 110,452,060 (GRCm38) |
I1096F |
possibly damaging |
Het |
| Klf12 |
A |
G |
14: 100,022,894 (GRCm38) |
V133A |
probably benign |
Het |
| Lats2 |
A |
T |
14: 57,694,418 (GRCm38) |
Y848N |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,049,289 (GRCm38) |
T453A |
possibly damaging |
Het |
| Ltn1 |
T |
G |
16: 87,415,681 (GRCm38) |
H664P |
probably benign |
Het |
| Lypd6 |
C |
T |
2: 50,173,601 (GRCm38) |
T40I |
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,272,221 (GRCm38) |
T1817S |
probably benign |
Het |
| Nub1 |
A |
C |
5: 24,702,441 (GRCm38) |
Y350S |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,309,876 (GRCm38) |
Y158H |
possibly damaging |
Het |
| Ptpru |
C |
T |
4: 131,788,377 (GRCm38) |
E827K |
possibly damaging |
Het |
| Rap1a |
A |
G |
3: 105,745,936 (GRCm38) |
Y32H |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,488,673 (GRCm38) |
N1143S |
possibly damaging |
Het |
| Rbl1 |
T |
C |
2: 157,161,433 (GRCm38) |
T859A |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,928,824 (GRCm38) |
L117P |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,118,644 (GRCm38) |
|
probably benign |
Het |
| Sirpb1c |
T |
C |
3: 15,832,076 (GRCm38) |
M379V |
probably benign |
Het |
| Slc6a4 |
C |
T |
11: 77,019,236 (GRCm38) |
T439M |
probably damaging |
Het |
| Srsf12 |
G |
T |
4: 33,230,929 (GRCm38) |
R141L |
probably damaging |
Het |
| Stk10 |
C |
T |
11: 32,596,748 (GRCm38) |
P335L |
probably benign |
Het |
| Tcstv2c |
G |
A |
13: 120,154,913 (GRCm38) |
S96N |
possibly damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,206,546 (GRCm38) |
N670K |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,132,707 (GRCm38) |
E8G |
probably benign |
Het |
| Tmem129 |
A |
G |
5: 33,657,716 (GRCm38) |
S38P |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,685,339 (GRCm38) |
E812G |
probably damaging |
Het |
| Trmt10b |
T |
A |
4: 45,314,236 (GRCm38) |
|
probably benign |
Het |
| Wapl |
A |
G |
14: 34,692,320 (GRCm38) |
T380A |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,656,691 (GRCm38) |
T829S |
probably benign |
Het |
| Zc3h6 |
C |
T |
2: 129,015,559 (GRCm38) |
P666L |
possibly damaging |
Het |
| Zfp1010 |
T |
C |
2: 177,265,256 (GRCm38) |
T150A |
possibly damaging |
Het |
| Zfp703 |
C |
T |
8: 26,979,205 (GRCm38) |
P299L |
probably damaging |
Het |
|
| Other mutations in Dis3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Dis3
|
APN |
14 |
99,082,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00821:Dis3
|
APN |
14 |
99,091,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00975:Dis3
|
APN |
14 |
99,079,234 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01536:Dis3
|
APN |
14 |
99,079,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01538:Dis3
|
APN |
14 |
99,097,745 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02143:Dis3
|
APN |
14 |
99,091,318 (GRCm38) |
splice site |
probably benign |
|
|
IGL02270:Dis3
|
APN |
14 |
99,078,354 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02354:Dis3
|
APN |
14 |
99,079,712 (GRCm38) |
nonsense |
probably null |
|
|
IGL02361:Dis3
|
APN |
14 |
99,079,712 (GRCm38) |
nonsense |
probably null |
|
|
IGL02650:Dis3
|
APN |
14 |
99,098,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03053:Dis3
|
APN |
14 |
99,098,734 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03057:Dis3
|
APN |
14 |
99,089,990 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL03389:Dis3
|
APN |
14 |
99,095,347 (GRCm38) |
splice site |
probably benign |
|
|
R0415:Dis3
|
UTSW |
14 |
99,087,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0504:Dis3
|
UTSW |
14 |
99,081,390 (GRCm38) |
splice site |
probably benign |
|
|
R1535:Dis3
|
UTSW |
14 |
99,079,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1756:Dis3
|
UTSW |
14 |
99,086,103 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1767:Dis3
|
UTSW |
14 |
99,084,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1883:Dis3
|
UTSW |
14 |
99,091,469 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1938:Dis3
|
UTSW |
14 |
99,097,590 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2056:Dis3
|
UTSW |
14 |
99,098,815 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2133:Dis3
|
UTSW |
14 |
99,079,877 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2448:Dis3
|
UTSW |
14 |
99,087,412 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3407:Dis3
|
UTSW |
14 |
99,098,776 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4052:Dis3
|
UTSW |
14 |
99,095,316 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4207:Dis3
|
UTSW |
14 |
99,095,316 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4208:Dis3
|
UTSW |
14 |
99,095,316 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4465:Dis3
|
UTSW |
14 |
99,084,114 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4612:Dis3
|
UTSW |
14 |
99,091,435 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4859:Dis3
|
UTSW |
14 |
99,087,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4932:Dis3
|
UTSW |
14 |
99,088,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5273:Dis3
|
UTSW |
14 |
99,098,806 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5335:Dis3
|
UTSW |
14 |
99,097,653 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5409:Dis3
|
UTSW |
14 |
99,085,932 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6156:Dis3
|
UTSW |
14 |
99,098,779 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6309:Dis3
|
UTSW |
14 |
99,085,922 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7275:Dis3
|
UTSW |
14 |
99,087,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7511:Dis3
|
UTSW |
14 |
99,099,606 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7535:Dis3
|
UTSW |
14 |
99,089,979 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7794:Dis3
|
UTSW |
14 |
99,098,797 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8013:Dis3
|
UTSW |
14 |
99,077,399 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8014:Dis3
|
UTSW |
14 |
99,077,399 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8077:Dis3
|
UTSW |
14 |
99,090,035 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8957:Dis3
|
UTSW |
14 |
99,099,591 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9072:Dis3
|
UTSW |
14 |
99,095,211 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9073:Dis3
|
UTSW |
14 |
99,095,211 (GRCm38) |
missense |
probably benign |
0.44 |
|
R9345:Dis3
|
UTSW |
14 |
99,081,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9542:Dis3
|
UTSW |
14 |
99,079,539 (GRCm38) |
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 |
Incidental Mutation