Incidental Mutation 'R3407:Dis3'
| ID |
258337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| MMRRC Submission |
040625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3407 (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 99336212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 98
(V98A)
|
| 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: V98A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: V98A
| 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: V98A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228449
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,962 (GRCm39) |
V150I |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,740,652 (GRCm39) |
S924P |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,206,808 (GRCm39) |
D260G |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Bag3 |
TAAAG |
TAAAGAAAG |
7: 128,147,492 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Carm1 |
C |
T |
9: 21,497,478 (GRCm39) |
R347W |
probably damaging |
Het |
| Ccdc30 |
A |
T |
4: 119,181,778 (GRCm39) |
F577I |
possibly damaging |
Het |
| Ces3a |
T |
A |
8: 105,777,199 (GRCm39) |
V174E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,830 (GRCm39) |
Y215C |
probably damaging |
Het |
| Cybrd1 |
A |
T |
2: 70,948,470 (GRCm39) |
M3L |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,415,115 (GRCm39) |
|
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,561,089 (GRCm39) |
V72E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,195,400 (GRCm39) |
I367F |
unknown |
Het |
| Fnbp1l |
A |
C |
3: 122,345,799 (GRCm39) |
W229G |
probably damaging |
Het |
| Inka1 |
C |
T |
9: 107,862,253 (GRCm39) |
R23Q |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,386 (GRCm39) |
I707K |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,900 (GRCm39) |
L1014P |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,410,438 (GRCm39) |
K414E |
possibly damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,139,518 (GRCm39) |
I66T |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,681,037 (GRCm39) |
L989R |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10ag53 |
A |
C |
2: 87,083,243 (GRCm39) |
T321P |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Pate2 |
C |
T |
9: 35,582,262 (GRCm39) |
T80I |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,442 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,661,784 (GRCm39) |
L640F |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
C |
T |
9: 35,478,021 (GRCm39) |
R418C |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,565,561 (GRCm39) |
N24K |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Smco3 |
A |
G |
6: 136,808,425 (GRCm39) |
S150P |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,992,615 (GRCm39) |
A1704S |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,249,150 (GRCm39) |
I1904N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,536,281 (GRCm39) |
K33280* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,328,682 (GRCm39) |
D90G |
probably benign |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Zbtb10 |
A |
G |
3: 9,329,926 (GRCm39) |
N428S |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,576,997 (GRCm39) |
A1372V |
probably benign |
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 |
|
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 |
|
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'- GTAGGTAGCACTGTCTTCCAC -3'
(R):5'- TTGGCCTAACGGAGAGTCAG -3'
Sequencing Primer
(F):5'- TAGGTAGCACTGTCTTCCACACAAC -3'
(R):5'- CCTAACGGAGAGTCAGTGTTTTAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation