Incidental Mutation 'R5273:Dis3'
| ID |
403783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| MMRRC Submission |
042862-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5273 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99336242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 88
(V88A)
|
| 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: V88A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: V88A
| 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 |
unknown
Transcript: ENSMUST00000227022
AA Change: S111P
|
| 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: V88A
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,832,233 (GRCm39) |
N799S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,916 (GRCm39) |
N589S |
probably damaging |
Het |
| Armc10 |
C |
T |
5: 21,858,426 (GRCm39) |
A157V |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,736,193 (GRCm39) |
L958P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,803,086 (GRCm39) |
A149V |
possibly damaging |
Het |
| Ccdc7a |
CATCAGCTGATAT |
CAT |
8: 129,788,090 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,460,070 (GRCm39) |
D141G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,273,825 (GRCm39) |
S2603P |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Dnajc21 |
A |
T |
15: 10,454,893 (GRCm39) |
C316S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,689 (GRCm39) |
T4084A |
probably damaging |
Het |
| Dock3 |
A |
C |
9: 106,777,904 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,756,947 (GRCm39) |
H1894R |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,218,330 (GRCm39) |
Y174C |
probably damaging |
Het |
| Gm4841 |
C |
T |
18: 60,403,815 (GRCm39) |
V93I |
probably benign |
Het |
| Gm7995 |
T |
C |
14: 42,133,413 (GRCm39) |
Y98H |
probably damaging |
Het |
| Gnrhr |
T |
A |
5: 86,330,105 (GRCm39) |
H305L |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,238,256 (GRCm39) |
F323I |
probably damaging |
Het |
| Kdm6b |
G |
T |
11: 69,295,027 (GRCm39) |
P1080Q |
unknown |
Het |
| Man2a1 |
C |
T |
17: 65,040,780 (GRCm39) |
T126I |
probably damaging |
Het |
| Mdm4 |
G |
A |
1: 132,922,320 (GRCm39) |
T274M |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,850,748 (GRCm39) |
V748E |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,528,899 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,853 (GRCm39) |
V99A |
probably benign |
Het |
| Or8g36 |
A |
G |
9: 39,422,795 (GRCm39) |
S74P |
possibly damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,766 (GRCm39) |
V239A |
probably benign |
Het |
| Ppic |
T |
A |
18: 53,542,330 (GRCm39) |
H126L |
probably damaging |
Het |
| Sdk1 |
T |
C |
5: 141,984,583 (GRCm39) |
F463L |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,354,671 (GRCm39) |
E197G |
possibly damaging |
Het |
| Slc22a14 |
A |
G |
9: 118,999,704 (GRCm39) |
S496P |
probably benign |
Het |
| Slc27a1 |
G |
A |
8: 72,036,900 (GRCm39) |
G379S |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,187,824 (GRCm39) |
E505G |
probably benign |
Het |
| Snrpe |
A |
C |
1: 133,537,518 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
T |
1: 85,636,825 (GRCm39) |
V299F |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,535,568 (GRCm39) |
S3942G |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,644,948 (GRCm39) |
V12969A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,946,487 (GRCm39) |
Q108R |
probably benign |
Het |
| Wnk4 |
A |
T |
11: 101,154,695 (GRCm39) |
I295F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTTCCACACAACCAGG -3'
(R):5'- TTTTCTGCAGCCAAGTACCAC -3'
Sequencing Primer
(F):5'- CAGGAAGCTACAGCCTGTGTTTG -3'
(R):5'- TACCACTTTGGCCTAACGGAGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation