Incidental Mutation 'IGL01398:Nudt9'
| ID |
79538 |
| 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 # |
IGL01398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 104212979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 351
(*351Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031250]
[ENSMUST00000164471]
[ENSMUST00000198485]
|
| AlphaFold |
Q8BVU5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031250
AA Change: *351Q
|
| SMART Domains |
Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310
AA Change: *351Q
| 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: ENSMUST00000164471
|
| SMART Domains |
Protein: ENSMUSP00000132880
Gene: ENSMUSG00000091034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198485
|
| SMART Domains |
Protein: ENSMUSP00000143623
Gene: ENSMUSG00000091034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
62 |
N/A |
INTRINSIC |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,735,956 (GRCm39) |
Y326F |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,722,512 (GRCm39) |
T287A |
possibly damaging |
Het |
| Cyp26a1 |
C |
T |
19: 37,686,395 (GRCm39) |
T13I |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,395,056 (GRCm39) |
S188P |
probably damaging |
Het |
| Eml3 |
T |
G |
19: 8,911,598 (GRCm39) |
|
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,593,793 (GRCm39) |
I124F |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,837,790 (GRCm39) |
|
probably benign |
Het |
| Foxq1 |
G |
A |
13: 31,743,434 (GRCm39) |
D179N |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,868,599 (GRCm39) |
V1443M |
possibly damaging |
Het |
| Gpnmb |
T |
A |
6: 49,027,365 (GRCm39) |
M363K |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,535,762 (GRCm39) |
|
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,300,130 (GRCm39) |
L929P |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,019,964 (GRCm39) |
I1823F |
probably damaging |
Het |
| Or2ak6 |
A |
T |
11: 58,592,593 (GRCm39) |
H22L |
probably benign |
Het |
| Or4c107 |
C |
T |
2: 88,789,193 (GRCm39) |
P128S |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,032 (GRCm39) |
F257I |
probably damaging |
Het |
| Pgr15l |
C |
T |
X: 96,121,785 (GRCm39) |
T392I |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 141,923,332 (GRCm39) |
L318I |
probably benign |
Het |
| Sult1c2 |
C |
A |
17: 54,269,180 (GRCm39) |
V279L |
possibly damaging |
Het |
| Tek |
T |
C |
4: 94,738,014 (GRCm39) |
I688T |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,748 (GRCm39) |
D477E |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,789,997 (GRCm39) |
Y884N |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,836,221 (GRCm39) |
H92Q |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,245,403 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
C |
17: 5,762,738 (GRCm39) |
I214T |
possibly 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 |
|
|
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 |
2013-11-05 |
Incidental Mutation