Incidental Mutation 'IGL03207:Nudt9'
| ID |
413185 |
| 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: 0.210)
|
| Stock # |
IGL03207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 104206092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031250]
[ENSMUST00000128511]
[ENSMUST00000134313]
[ENSMUST00000148261]
[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: ENSMUST00000148261
|
| SMART Domains |
Protein: ENSMUSP00000115170
Gene: ENSMUSG00000029310
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
110 |
2e-68 |
PDB |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
G |
8: 125,286,107 (GRCm39) |
F325S |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,993,042 (GRCm39) |
E166G |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,004,145 (GRCm39) |
I1619T |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,307 (GRCm39) |
D733G |
probably damaging |
Het |
| Capn2 |
T |
G |
1: 182,316,578 (GRCm39) |
T294P |
possibly damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,996 (GRCm39) |
|
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,941,637 (GRCm39) |
L185P |
probably benign |
Het |
| Exoc5 |
G |
A |
14: 49,270,832 (GRCm39) |
P398S |
probably benign |
Het |
| Fsd2 |
T |
C |
7: 81,208,918 (GRCm39) |
M187V |
probably benign |
Het |
| Lrfn5 |
C |
T |
12: 61,890,112 (GRCm39) |
T467M |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Nuak1 |
A |
C |
10: 84,275,993 (GRCm39) |
F77V |
possibly damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,317 (GRCm39) |
W273R |
probably benign |
Het |
| Ppp3cc |
T |
A |
14: 70,485,031 (GRCm39) |
I208F |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,522,389 (GRCm39) |
R407Q |
probably benign |
Het |
| Ror1 |
G |
A |
4: 100,265,142 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
T |
A |
13: 84,442,714 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,039,936 (GRCm39) |
A347E |
probably damaging |
Het |
|
| Other mutations in Nudt9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Nudt9
|
APN |
5 |
104,209,628 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation