Incidental Mutation 'R5167:Nudt7'
| ID |
397353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nudt7
|
| Ensembl Gene |
ENSMUSG00000031767 |
| Gene Name |
nudix hydrolase 7 |
| Synonyms |
1300007B24Rik, 2210404C19Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 7 |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114860314-114881471 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 114878567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 154
(C154*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066514]
[ENSMUST00000073521]
[ENSMUST00000109109]
[ENSMUST00000134593]
[ENSMUST00000147605]
|
| AlphaFold |
Q99P30 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066514
AA Change: C145*
|
| SMART Domains |
Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767
AA Change: C145*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
15 |
140 |
4.1e-15 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073521
AA Change: C174*
|
| SMART Domains |
Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767
AA Change: C174*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
38 |
168 |
4.4e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109109
AA Change: C198*
|
| SMART Domains |
Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: C198*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
62 |
193 |
3.2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134593
|
| SMART Domains |
Protein: ENSMUSP00000116868
Gene: ENSMUSG00000031767
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
38 |
146 |
4.2e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147605
AA Change: C154*
|
| SMART Domains |
Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767
AA Change: C154*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
38 |
107 |
1.2e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly damaging |
Het |
|
| Other mutations in Nudt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Nudt7
|
APN |
8 |
114,874,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL02549:Nudt7
|
APN |
8 |
114,878,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Nudt7
|
UTSW |
8 |
114,878,392 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0781:Nudt7
|
UTSW |
8 |
114,862,111 (GRCm39) |
intron |
probably benign |
|
|
R5198:Nudt7
|
UTSW |
8 |
114,862,185 (GRCm39) |
splice site |
probably null |
|
|
R5562:Nudt7
|
UTSW |
8 |
114,874,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Nudt7
|
UTSW |
8 |
114,878,506 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6957:Nudt7
|
UTSW |
8 |
114,860,385 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7410:Nudt7
|
UTSW |
8 |
114,860,559 (GRCm39) |
intron |
probably benign |
|
|
R8245:Nudt7
|
UTSW |
8 |
114,863,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8248:Nudt7
|
UTSW |
8 |
114,878,737 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9602:Nudt7
|
UTSW |
8 |
114,878,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGATGCACTGGTAACCCC -3'
(R):5'- AAAACCTCATGTACGTTCTTTTGGG -3'
Sequencing Primer
(F):5'- CCGTAGTGGGTTTTCTAGACCAC -3'
(R):5'- CAGGGTCTTCACAACTTGCTTAAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation