Incidental Mutation 'R0227:Nudt9'
ID |
33987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nudt9
|
Ensembl Gene |
ENSMUSG00000029310 |
Gene Name |
nudix hydrolase 9 |
Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 9, 1190002C07Rik |
MMRRC Submission |
038472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.240)
|
Stock # |
R0227 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104209541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 264
(I264T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031250]
[ENSMUST00000128511]
[ENSMUST00000134313]
[ENSMUST00000150226]
|
AlphaFold |
Q8BVU5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031250
AA Change: I264T
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031250 Gene: ENSMUSG00000029310 AA Change: I264T
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 |
|
Meta Mutation Damage Score |
0.5212 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
Validation Efficiency |
86% (37/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
Crim1 |
A |
G |
17: 78,651,938 (GRCm39) |
|
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
Ess2 |
C |
T |
16: 17,720,135 (GRCm39) |
V406I |
probably damaging |
Het |
Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
Gtf3a |
C |
A |
5: 146,892,199 (GRCm39) |
R317S |
probably damaging |
Het |
Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
Slc34a2 |
T |
C |
5: 53,226,968 (GRCm39) |
F697S |
possibly damaging |
Het |
Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
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 |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2013-05-09 |