Incidental Mutation 'IGL00492:Nudt9'
| ID |
12800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nudt9
|
| Ensembl Gene |
ENSMUSG00000029310 |
| Gene Name |
nudix hydrolase 9 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 9, 1190002C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 104209628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031250]
[ENSMUST00000128511]
[ENSMUST00000134313]
[ENSMUST00000150226]
|
| AlphaFold |
Q8BVU5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031250
|
| SMART Domains |
Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
189 |
334 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128511
|
| SMART Domains |
Protein: ENSMUSP00000119820
Gene: ENSMUSG00000029310
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
158 |
1e-89 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134313
|
| SMART Domains |
Protein: ENSMUSP00000117181
Gene: ENSMUSG00000029310
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
152 |
2e-84 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150226
|
| SMART Domains |
Protein: ENSMUSP00000114631
Gene: ENSMUSG00000029310
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
131 |
207 |
6.4e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
| Braf |
A |
T |
6: 39,637,933 (GRCm39) |
|
probably null |
Het |
| Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,320,110 (GRCm39) |
I649T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,153,723 (GRCm39) |
Y223C |
probably damaging |
Het |
| Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
| Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
| Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
| Psg20 |
T |
C |
7: 18,408,536 (GRCm39) |
T395A |
possibly damaging |
Het |
| Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,381 (GRCm39) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
Het |
|
| Other mutations in Nudt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01398:Nudt9
|
APN |
5 |
104,212,979 (GRCm39) |
makesense |
probably null |
|
|
IGL01910:Nudt9
|
APN |
5 |
104,202,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02441:Nudt9
|
APN |
5 |
104,212,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03207:Nudt9
|
APN |
5 |
104,206,092 (GRCm39) |
splice site |
probably benign |
|
|
steady
|
UTSW |
5 |
104,205,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
streak
|
UTSW |
5 |
104,198,487 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
Struck
|
UTSW |
5 |
104,212,904 (GRCm39) |
nonsense |
probably null |
|
|
R0136:Nudt9
|
UTSW |
5 |
104,194,972 (GRCm39) |
missense |
probably benign |
|
|
R0227:Nudt9
|
UTSW |
5 |
104,209,541 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0652:Nudt9
|
UTSW |
5 |
104,198,467 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0755:Nudt9
|
UTSW |
5 |
104,212,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1156:Nudt9
|
UTSW |
5 |
104,198,596 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Nudt9
|
UTSW |
5 |
104,212,904 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Nudt9
|
UTSW |
5 |
104,212,904 (GRCm39) |
nonsense |
probably null |
|
|
R1962:Nudt9
|
UTSW |
5 |
104,212,971 (GRCm39) |
missense |
probably benign |
|
|
R2697:Nudt9
|
UTSW |
5 |
104,212,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2916:Nudt9
|
UTSW |
5 |
104,203,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Nudt9
|
UTSW |
5 |
104,194,972 (GRCm39) |
missense |
probably benign |
|
|
R3972:Nudt9
|
UTSW |
5 |
104,194,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4354:Nudt9
|
UTSW |
5 |
104,205,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Nudt9
|
UTSW |
5 |
104,198,487 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
R5652:Nudt9
|
UTSW |
5 |
104,207,646 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6087:Nudt9
|
UTSW |
5 |
104,198,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6240:Nudt9
|
UTSW |
5 |
104,194,955 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6241:Nudt9
|
UTSW |
5 |
104,202,151 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6280:Nudt9
|
UTSW |
5 |
104,212,935 (GRCm39) |
missense |
probably benign |
|
|
R6719:Nudt9
|
UTSW |
5 |
104,209,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6865:Nudt9
|
UTSW |
5 |
104,207,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7225:Nudt9
|
UTSW |
5 |
104,212,966 (GRCm39) |
missense |
probably benign |
|
|
R7629:Nudt9
|
UTSW |
5 |
104,198,560 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7685:Nudt9
|
UTSW |
5 |
104,194,946 (GRCm39) |
nonsense |
probably null |
|
|
R8027:Nudt9
|
UTSW |
5 |
104,212,793 (GRCm39) |
splice site |
probably benign |
|
|
R8029:Nudt9
|
UTSW |
5 |
104,198,477 (GRCm39) |
start gained |
probably benign |
|
|
X0063:Nudt9
|
UTSW |
5 |
104,198,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation