Incidental Mutation 'IGL00801:Nudt5'
| ID |
12799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nudt5
|
| Ensembl Gene |
ENSMUSG00000025817 |
| Gene Name |
nudix hydrolase 5 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5849839-5875631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5871168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 166
(F166S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026927]
[ENSMUST00000071016]
[ENSMUST00000102981]
[ENSMUST00000127116]
[ENSMUST00000179748]
[ENSMUST00000193792]
[ENSMUST00000194933]
|
| AlphaFold |
Q9JKX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026927
AA Change: F166S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: F166S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
57 |
191 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071016
|
| SMART Domains |
Protein: ENSMUSP00000063314
Gene: ENSMUSG00000056718
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102981
|
| SMART Domains |
Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
6.2e-21 |
PFAM |
|
Pfam:SecY
|
75 |
458 |
1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127116
|
| SMART Domains |
Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
57 |
158 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142918
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179748
AA Change: F166S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: F166S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
57 |
192 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193792
|
| SMART Domains |
Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
4e-22 |
PFAM |
|
Pfam:SecY
|
75 |
263 |
5.3e-44 |
PFAM |
|
Pfam:SecY
|
261 |
393 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194933
|
| SMART Domains |
Protein: ENSMUSP00000141265
Gene: ENSMUSG00000025817
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3BM4|B
|
1 |
88 |
4e-44 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,746,750 (GRCm39) |
A122V |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Nudt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Nudt5
|
APN |
2 |
5,869,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02683:Nudt5
|
APN |
2 |
5,868,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0158:Nudt5
|
UTSW |
2 |
5,867,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Nudt5
|
UTSW |
2 |
5,868,411 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2202:Nudt5
|
UTSW |
2 |
5,860,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2203:Nudt5
|
UTSW |
2 |
5,860,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2204:Nudt5
|
UTSW |
2 |
5,860,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2205:Nudt5
|
UTSW |
2 |
5,860,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3836:Nudt5
|
UTSW |
2 |
5,871,158 (GRCm39) |
splice site |
probably null |
|
|
R4652:Nudt5
|
UTSW |
2 |
5,860,876 (GRCm39) |
intron |
probably benign |
|
|
R4841:Nudt5
|
UTSW |
2 |
5,869,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4842:Nudt5
|
UTSW |
2 |
5,869,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Nudt5
|
UTSW |
2 |
5,869,198 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5073:Nudt5
|
UTSW |
2 |
5,869,198 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5074:Nudt5
|
UTSW |
2 |
5,869,198 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5106:Nudt5
|
UTSW |
2 |
5,859,640 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6328:Nudt5
|
UTSW |
2 |
5,869,248 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7530:Nudt5
|
UTSW |
2 |
5,869,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Nudt5
|
UTSW |
2 |
5,858,322 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8936:Nudt5
|
UTSW |
2 |
5,869,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation