Incidental Mutation 'R6087:Nudt9'
| ID |
484604 |
| 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 |
044244-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R6087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
104194172-104213245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104198679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 65
(I65V)
|
| 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
AA Change: I115V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310
AA Change: I115V
| 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: I65V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119820
Gene: ENSMUSG00000029310
AA Change: I65V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
158 |
1e-89 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134313
AA Change: I65V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117181
Gene: ENSMUSG00000029310
AA Change: I65V
| 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
AA Change: I65V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000115170
Gene: ENSMUSG00000029310
AA Change: I65V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1QVJ|A
|
9 |
110 |
2e-68 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150226
AA Change: I65V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000114631
Gene: ENSMUSG00000029310
AA Change: I65V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
Pfam:NUDIX
|
131 |
207 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196765
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,119,621 (GRCm39) |
K126R |
possibly damaging |
Het |
| Adam7 |
A |
T |
14: 68,748,206 (GRCm39) |
C548S |
probably damaging |
Het |
| Adar |
C |
A |
3: 89,652,897 (GRCm39) |
H260N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,258,828 (GRCm39) |
E775G |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,297,568 (GRCm39) |
Y499C |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,772,190 (GRCm39) |
L480P |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,763,638 (GRCm39) |
|
probably null |
Het |
| Cnga1 |
G |
T |
5: 72,768,155 (GRCm39) |
A177E |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,432,658 (GRCm39) |
D1221V |
probably damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,648,205 (GRCm39) |
Y36C |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,138,438 (GRCm39) |
N1254K |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,255 (GRCm39) |
S128P |
probably damaging |
Het |
| Fam13b |
C |
T |
18: 34,620,192 (GRCm39) |
V231I |
possibly damaging |
Het |
| Fbxo8 |
T |
A |
8: 57,022,353 (GRCm39) |
Y122N |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,708,002 (GRCm39) |
I378F |
probably benign |
Het |
| Golga3 |
A |
T |
5: 110,352,812 (GRCm39) |
Q861L |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ighv3-8 |
G |
T |
12: 114,286,000 (GRCm39) |
A114E |
probably damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,269 (GRCm39) |
|
probably null |
Het |
| Kank1 |
G |
A |
19: 25,387,088 (GRCm39) |
V254I |
probably benign |
Het |
| Lipo5 |
A |
T |
19: 33,443,375 (GRCm39) |
I147K |
unknown |
Het |
| Lrfn2 |
A |
G |
17: 49,378,154 (GRCm39) |
S412G |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,534 (GRCm39) |
N261S |
possibly damaging |
Het |
| Mical2 |
C |
T |
7: 111,917,692 (GRCm39) |
Q350* |
probably null |
Het |
| Nras |
T |
C |
3: 102,967,637 (GRCm39) |
F78L |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,406,259 (GRCm39) |
D277G |
probably benign |
Het |
| Or4f17-ps1 |
A |
T |
2: 111,358,526 (GRCm39) |
E289V |
possibly damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekha1 |
T |
G |
7: 130,502,301 (GRCm39) |
S175A |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,290,869 (GRCm39) |
K445E |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,271,705 (GRCm39) |
Y318H |
probably benign |
Het |
| Ret |
G |
T |
6: 118,153,252 (GRCm39) |
T472K |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,155,709 (GRCm39) |
D1343G |
probably benign |
Het |
| Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
| Vmn1r171 |
T |
A |
7: 23,332,429 (GRCm39) |
M218K |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,695,033 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
T |
A |
14: 75,568,149 (GRCm39) |
D1147E |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,135 (GRCm39) |
L1703H |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGGTTCTAATGGTGCCAAAGAG -3'
(R):5'- AAACAGCGGCGATTCCAAATAG -3'
Sequencing Primer
(F):5'- TGGTGCCAAAGAGAATTCCC -3'
(R):5'- GGCGATTCCAAATAGATTTGCCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation