Incidental Mutation 'R8014:Dis3'
| ID |
617096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dis3
|
| Ensembl Gene |
ENSMUSG00000033166 |
| Gene Name |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
| Synonyms |
2810028N01Rik |
| MMRRC Submission |
067454-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
99314070-99337217 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99314835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 954
(R954W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022656]
[ENSMUST00000042471]
[ENSMUST00000227022]
[ENSMUST00000227744]
[ENSMUST00000228643]
|
| AlphaFold |
Q9CSH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022656
|
| SMART Domains |
Protein: ENSMUSP00000022656
Gene: ENSMUSG00000022070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BORA_N
|
7 |
207 |
2.4e-69 |
PFAM |
|
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042471
AA Change: R954W
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: R954W
| 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 |
probably benign
Transcript: ENSMUST00000227022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228643
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
| Aff1 |
A |
G |
5: 103,981,735 (GRCm39) |
T625A |
possibly damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,265,201 (GRCm39) |
V276A |
probably benign |
Het |
| Alkbh3 |
T |
C |
2: 93,831,858 (GRCm39) |
D124G |
probably benign |
Het |
| Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
| Atp13a1 |
C |
T |
8: 70,252,429 (GRCm39) |
R608* |
probably null |
Het |
| Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,547,689 (GRCm39) |
T647S |
possibly damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,304 (GRCm39) |
E1140G |
possibly damaging |
Het |
| Ccdc158 |
C |
A |
5: 92,796,889 (GRCm39) |
E482D |
probably damaging |
Het |
| Ccdc92 |
A |
T |
5: 124,913,090 (GRCm39) |
H146Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,577 (GRCm39) |
N341K |
probably damaging |
Het |
| Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| D130043K22Rik |
A |
T |
13: 25,040,685 (GRCm39) |
I36F |
probably damaging |
Het |
| Eef1ece2 |
A |
T |
16: 20,461,067 (GRCm39) |
T618S |
probably benign |
Het |
| Ext1 |
T |
C |
15: 52,939,283 (GRCm39) |
I589V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
| Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,381,946 (GRCm39) |
M1K |
probably null |
Het |
| Gars1 |
T |
A |
6: 55,050,392 (GRCm39) |
F551Y |
probably benign |
Het |
| Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
| Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
| Gm9758 |
A |
G |
5: 14,961,454 (GRCm39) |
V175A |
possibly damaging |
Het |
| Gpr182 |
T |
C |
10: 127,586,874 (GRCm39) |
T26A |
possibly damaging |
Het |
| Gpr19 |
A |
G |
6: 134,846,436 (GRCm39) |
Y416H |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
| Itgb7 |
T |
A |
15: 102,131,087 (GRCm39) |
S322C |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
| Morc2a |
T |
C |
11: 3,627,419 (GRCm39) |
S281P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,171 (GRCm39) |
H2116R |
unknown |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,393,729 (GRCm39) |
D43G |
possibly damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
| Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
| Or4c122 |
T |
A |
2: 89,079,343 (GRCm39) |
I220F |
probably damaging |
Het |
| Or4c3 |
C |
A |
2: 89,852,087 (GRCm39) |
V108F |
possibly damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,175 (GRCm39) |
T81S |
not run |
Het |
| Or5w22 |
A |
T |
2: 87,362,508 (GRCm39) |
M44L |
probably benign |
Het |
| Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,785,082 (GRCm39) |
I930T |
possibly damaging |
Het |
| Piezo2 |
C |
T |
18: 63,216,271 (GRCm39) |
G1169S |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,579,115 (GRCm39) |
|
probably null |
Het |
| Plekhg1 |
A |
T |
10: 3,907,758 (GRCm39) |
R947W |
|
Het |
| Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
| Rin3 |
T |
A |
12: 102,327,630 (GRCm39) |
L193* |
probably null |
Het |
| Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
| Stab2 |
C |
A |
10: 86,686,767 (GRCm39) |
S2259I |
possibly damaging |
Het |
| Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
| Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
| Tmem108 |
A |
T |
9: 103,376,606 (GRCm39) |
I281N |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
| Usp44 |
G |
T |
10: 93,688,571 (GRCm39) |
|
probably null |
Het |
| Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
| Zfp599 |
A |
G |
9: 22,160,777 (GRCm39) |
Y463H |
probably benign |
Het |
| Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
| Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
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 |
|
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 |
|
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'- GATCTCTGAAGTTGTTATTGTCACC -3'
(R):5'- CTCCTCCACTGGAAAATCTGTAC -3'
Sequencing Primer
(F):5'- GCATAATTTTTGTTGTTGCAGAAGC -3'
(R):5'- CTCCACTGGAAAATCTGTACTGTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation