Incidental Mutation 'R0018:Nudt8'
| ID |
19056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nudt8
|
| Ensembl Gene |
ENSMUSG00000024869 |
| Gene Name |
nudix hydrolase 8 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 8, 2310039H17Rik |
| MMRRC Submission |
038313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R0018 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4050580-4052102 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 4051152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025802]
[ENSMUST00000025806]
[ENSMUST00000041871]
[ENSMUST00000122924]
[ENSMUST00000155405]
|
| AlphaFold |
Q9CR24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025802
|
| SMART Domains |
Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
26 |
160 |
2.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025806
|
| SMART Domains |
Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
99 |
206 |
1.14e-10 |
SMART |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
C2
|
259 |
373 |
5.14e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041871
|
| SMART Domains |
Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
64 |
257 |
9.2e-117 |
SMART |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000122924
AA Change: P8S
|
| SMART Domains |
Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949
AA Change: P8S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
19 |
117 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155405
|
| SMART Domains |
Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
29 |
159 |
8.1e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 82.8%
- 3x: 76.3%
- 10x: 59.3%
- 20x: 41.5%
|
| Validation Efficiency |
90% (80/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b4 |
T |
A |
1: 133,645,609 (GRCm39) |
I982F |
probably damaging |
Het |
| BC024139 |
G |
A |
15: 76,005,087 (GRCm39) |
Q592* |
probably null |
Het |
| Capn7 |
T |
A |
14: 31,076,069 (GRCm39) |
C290* |
probably null |
Het |
| Celsr1 |
T |
A |
15: 85,915,243 (GRCm39) |
D910V |
possibly damaging |
Het |
| Cpne2 |
T |
A |
8: 95,282,681 (GRCm39) |
C59S |
possibly damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,785,375 (GRCm39) |
R248H |
probably benign |
Het |
| Dennd1a |
T |
A |
2: 37,748,472 (GRCm39) |
T336S |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,800,862 (GRCm39) |
Y628C |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,464 (GRCm39) |
V542A |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,432,843 (GRCm39) |
L780P |
possibly damaging |
Het |
| Gsx2 |
A |
G |
5: 75,237,828 (GRCm39) |
K260R |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,419,289 (GRCm39) |
D684G |
possibly damaging |
Het |
| Kif27 |
T |
G |
13: 58,435,867 (GRCm39) |
I1309L |
probably benign |
Het |
| Me2 |
A |
T |
18: 73,924,923 (GRCm39) |
F265I |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,779,007 (GRCm39) |
T1588S |
probably benign |
Het |
| Neu4 |
T |
A |
1: 93,953,060 (GRCm39) |
D476E |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,071,423 (GRCm39) |
Q895L |
possibly damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,678,647 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,544,406 (GRCm39) |
Y1799H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,082,951 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
A |
G |
9: 35,477,920 (GRCm39) |
D384G |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,454,016 (GRCm39) |
S307P |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,558,360 (GRCm39) |
D142G |
probably damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,157,301 (GRCm39) |
I31V |
probably benign |
Het |
| Slc15a4 |
A |
T |
5: 127,679,074 (GRCm39) |
I422N |
probably damaging |
Het |
| Slc26a6 |
G |
T |
9: 108,736,121 (GRCm39) |
|
probably null |
Het |
| Ufm1 |
A |
T |
3: 53,766,617 (GRCm39) |
I79N |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,232,020 (GRCm39) |
R230H |
probably benign |
Het |
| Zfp418 |
A |
T |
7: 7,185,449 (GRCm39) |
S471C |
probably benign |
Het |
|
| Other mutations in Nudt8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0122:Nudt8
|
UTSW |
19 |
4,051,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0714:Nudt8
|
UTSW |
19 |
4,052,023 (GRCm39) |
makesense |
probably null |
|
|
R1022:Nudt8
|
UTSW |
19 |
4,051,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Nudt8
|
UTSW |
19 |
4,051,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Nudt8
|
UTSW |
19 |
4,051,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Nudt8
|
UTSW |
19 |
4,051,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Nudt8
|
UTSW |
19 |
4,052,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5704:Nudt8
|
UTSW |
19 |
4,050,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5909:Nudt8
|
UTSW |
19 |
4,050,727 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6621:Nudt8
|
UTSW |
19 |
4,051,320 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6962:Nudt8
|
UTSW |
19 |
4,051,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Nudt8
|
UTSW |
19 |
4,050,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Nudt8
|
UTSW |
19 |
4,051,690 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation