Incidental Mutation 'R4052:Dis3'
ID |
314220 |
Institutional Source |
Beutler Lab
|
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 # |
R4052 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 99332752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 227
(I227L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(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: I227L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041906 Gene: ENSMUSG00000033166 AA Change: I227L
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 benign
Transcript: ENSMUST00000227022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228279
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
AA Change: I227L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228354
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
Pabpc1l |
T |
C |
2: 163,885,533 (GRCm39) |
W429R |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,803,963 (GRCm39) |
F89L |
probably damaging |
Het |
Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Rnf207 |
C |
A |
4: 152,395,894 (GRCm39) |
Q533H |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,685 (GRCm39) |
Q57L |
possibly damaging |
Het |
Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCTATTGCTGGGAACAAAGAGAC -3'
(R):5'- ACCACCTTCTTTACAGCGAG -3'
Sequencing Primer
(F):5'- GGTGGAAAAGCCTGCAGC -3'
(R):5'- GCGAGTTATTTTAGATACAAGTGGTC -3'
|
Posted On |
2015-04-30 |