Incidental Mutation 'R4207:Dis3'
ID |
318990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dis3
|
Ensembl Gene |
ENSMUSG00000033166 |
Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
Synonyms |
2810028N01Rik |
MMRRC Submission |
041036-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4207 (G1)
|
Quality Score |
225 |
Status
|
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 |
noncoding transcript
Transcript: ENSMUST00000228354
|
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
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Acap2 |
T |
A |
16: 30,938,245 (GRCm39) |
N293I |
probably damaging |
Het |
Adgrg4 |
G |
A |
X: 55,964,109 (GRCm39) |
V1893I |
possibly damaging |
Het |
Aff1 |
T |
C |
5: 103,966,854 (GRCm39) |
|
probably null |
Het |
Ap1b1 |
A |
G |
11: 4,981,637 (GRCm39) |
D515G |
probably damaging |
Het |
Brk1 |
T |
C |
6: 113,592,805 (GRCm39) |
Y63H |
possibly damaging |
Het |
Cand1 |
T |
C |
10: 119,047,750 (GRCm39) |
D580G |
probably damaging |
Het |
Casp4 |
A |
G |
9: 5,328,451 (GRCm39) |
D311G |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ctnnd2 |
G |
T |
15: 30,972,973 (GRCm39) |
V1033F |
probably damaging |
Het |
Dhx29 |
G |
T |
13: 113,064,483 (GRCm39) |
A53S |
probably benign |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,400,024 (GRCm39) |
V592A |
probably damaging |
Het |
Elovl7 |
A |
T |
13: 108,419,040 (GRCm39) |
Q224L |
possibly damaging |
Het |
Fcgr3 |
T |
A |
1: 170,881,644 (GRCm39) |
K160N |
probably benign |
Het |
Flg |
A |
G |
3: 93,187,169 (GRCm39) |
Y207C |
probably benign |
Het |
Fmn2 |
A |
G |
1: 174,409,521 (GRCm39) |
T585A |
unknown |
Het |
Gm7135 |
T |
C |
1: 97,397,620 (GRCm39) |
|
noncoding transcript |
Het |
Gm8104 |
G |
T |
14: 42,959,091 (GRCm39) |
D94Y |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Kbtbd4 |
T |
C |
2: 90,740,099 (GRCm39) |
F495L |
probably damaging |
Het |
Lingo2 |
T |
C |
4: 35,709,810 (GRCm39) |
I57V |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Mthfsd |
A |
G |
8: 121,832,365 (GRCm39) |
V133A |
probably damaging |
Het |
Nav2 |
T |
A |
7: 49,222,046 (GRCm39) |
|
probably null |
Het |
Nav2 |
T |
A |
7: 49,246,979 (GRCm39) |
I2168N |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,523,548 (GRCm39) |
D644V |
possibly damaging |
Het |
Oplah |
C |
T |
15: 76,186,910 (GRCm39) |
R635H |
probably damaging |
Het |
Or10n1 |
A |
G |
9: 39,525,253 (GRCm39) |
Y130C |
possibly damaging |
Het |
Or2c1 |
T |
C |
16: 3,657,434 (GRCm39) |
L199P |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,835 (GRCm39) |
I15M |
probably benign |
Het |
Peli1 |
A |
G |
11: 21,097,115 (GRCm39) |
|
probably null |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Pld5 |
T |
G |
1: 175,821,441 (GRCm39) |
T242P |
probably damaging |
Het |
Rbm5 |
A |
G |
9: 107,627,682 (GRCm39) |
S420P |
probably benign |
Het |
Rhag |
A |
T |
17: 41,142,544 (GRCm39) |
I250F |
probably damaging |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Scaf4 |
C |
T |
16: 90,057,103 (GRCm39) |
V83I |
unknown |
Het |
Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
Slc5a8 |
G |
T |
10: 88,747,275 (GRCm39) |
L409F |
probably damaging |
Het |
Spns3 |
A |
T |
11: 72,429,187 (GRCm39) |
V199E |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,227 (GRCm39) |
T3030A |
probably benign |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Stk39 |
G |
T |
2: 68,051,264 (GRCm39) |
T527K |
probably benign |
Het |
Sult2a1 |
T |
A |
7: 13,535,472 (GRCm39) |
T194S |
probably benign |
Het |
Tamm41 |
AGGG |
AGG |
6: 114,989,320 (GRCm39) |
|
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,178,341 (GRCm39) |
V106I |
probably damaging |
Het |
Vmn2r85 |
A |
C |
10: 130,254,574 (GRCm39) |
C703W |
probably damaging |
Het |
Vmn2r92 |
G |
A |
17: 18,404,523 (GRCm39) |
V556M |
possibly damaging |
Het |
Zfp292 |
T |
C |
4: 34,806,079 (GRCm39) |
I2322V |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,766,142 (GRCm39) |
E93G |
probably damaging |
Het |
Zfp81 |
C |
T |
17: 33,553,890 (GRCm39) |
C308Y |
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 |
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 |
2015-06-10 |