Incidental Mutation 'IGL01910:Nudt9'
| ID |
179781 |
| 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 # |
IGL01910
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 104202175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 79
(G79R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031250]
[ENSMUST00000128511]
[ENSMUST00000134313]
[ENSMUST00000148261]
[ENSMUST00000150226]
|
| AlphaFold |
Q8BVU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031250
AA Change: G129R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310
AA Change: G129R
| 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
AA Change: G79R
PolyPhen 2
Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119820
Gene: ENSMUSG00000029310
AA Change: G79R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
158 |
1e-89 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134313
AA Change: G79R
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117181
Gene: ENSMUSG00000029310
AA Change: G79R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
152 |
2e-84 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142018
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148261
AA Change: G79R
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115170
Gene: ENSMUSG00000029310
AA Change: G79R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
110 |
2e-68 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150226
AA Change: G79R
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114631
Gene: ENSMUSG00000029310
AA Change: G79R
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ammecr1l |
A |
G |
18: 31,904,995 (GRCm39) |
M79V |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,563,644 (GRCm39) |
V205E |
probably benign |
Het |
| BC061237 |
T |
C |
14: 44,743,445 (GRCm39) |
|
probably benign |
Het |
| Calr |
T |
A |
8: 85,571,598 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,814,096 (GRCm39) |
N1942S |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,386,606 (GRCm39) |
D373G |
probably damaging |
Het |
| Chst9 |
C |
A |
18: 15,585,931 (GRCm39) |
A211S |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,879,056 (GRCm39) |
E478G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,511,602 (GRCm39) |
V387D |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,643 (GRCm39) |
I161V |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hmx2 |
C |
T |
7: 131,157,401 (GRCm39) |
R172C |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,682,948 (GRCm39) |
A320V |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 142,138,485 (GRCm39) |
N361K |
probably benign |
Het |
| Mbl1 |
T |
C |
14: 40,875,703 (GRCm39) |
|
probably null |
Het |
| Ppan |
C |
T |
9: 20,802,232 (GRCm39) |
R208C |
probably damaging |
Het |
| Rpl23a-ps1 |
A |
G |
1: 46,020,940 (GRCm39) |
|
noncoding transcript |
Het |
| Slc17a1 |
A |
G |
13: 24,062,440 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,569 (GRCm39) |
T1269A |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,951 (GRCm39) |
N275Y |
probably damaging |
Het |
| Wdr93 |
T |
C |
7: 79,421,321 (GRCm39) |
S405P |
probably damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,458 (GRCm39) |
I81F |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation