Incidental Mutation 'IGL02683:Nudt5'
ID |
303431 |
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 # |
IGL02683
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
5849839-5875631 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 5868412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 103
(S103R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026927]
[ENSMUST00000071016]
[ENSMUST00000127116]
[ENSMUST00000179748]
[ENSMUST00000194933]
|
AlphaFold |
Q9JKX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026927
AA Change: S103R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000026927 Gene: ENSMUSG00000025817 AA Change: S103R
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 |
possibly damaging
Transcript: ENSMUST00000127116
AA Change: S103R
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117670 Gene: ENSMUSG00000025817 AA Change: S103R
Domain | Start | End | E-Value | Type |
Pfam:NUDIX
|
57 |
158 |
3.3e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142918
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179748
AA Change: S103R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136233 Gene: ENSMUSG00000025817 AA Change: S103R
Domain | Start | End | E-Value | Type |
Pfam:NUDIX
|
57 |
192 |
1.2e-21 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,153 (GRCm39) |
Q310L |
probably benign |
Het |
Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
Het |
|
Other mutations in Nudt5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00801:Nudt5
|
APN |
2 |
5,871,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01085:Nudt5
|
APN |
2 |
5,869,238 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
2015-04-16 |