Incidental Mutation 'R1022:Nudt8'
| ID |
98812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nudt8
|
| Ensembl Gene |
ENSMUSG00000024869 |
| Gene Name |
nudix hydrolase 8 |
| Synonyms |
nudix (nucleoside diphosphate linked moiety X)-type motif 8, 2310039H17Rik |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
119 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4050580-4052102 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4051925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 179
(W179R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025802]
[ENSMUST00000025806]
[ENSMUST00000041871]
[ENSMUST00000122924]
[ENSMUST00000155405]
|
| AlphaFold |
Q9CR24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025802
AA Change: W179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949
AA Change: W179R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
26 |
160 |
2.8e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025806
|
| SMART Domains |
Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
99 |
206 |
1.14e-10 |
SMART |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
C2
|
259 |
373 |
5.14e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041871
|
| SMART Domains |
Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477
| Domain | Start | End | E-Value | Type |
|---|
|
TBOX
|
64 |
257 |
9.2e-117 |
SMART |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122924
AA Change: W136R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949
AA Change: W136R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
19 |
117 |
3.1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147806
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155405
AA Change: W179R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869
AA Change: W179R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
29 |
159 |
8.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156285
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
Het |
|
| Other mutations in Nudt8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0018:Nudt8
|
UTSW |
19 |
4,051,152 (GRCm39) |
intron |
probably benign |
|
|
R0122:Nudt8
|
UTSW |
19 |
4,051,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0714:Nudt8
|
UTSW |
19 |
4,052,023 (GRCm39) |
makesense |
probably null |
|
|
R1024:Nudt8
|
UTSW |
19 |
4,051,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Nudt8
|
UTSW |
19 |
4,051,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2209:Nudt8
|
UTSW |
19 |
4,051,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Nudt8
|
UTSW |
19 |
4,052,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5704:Nudt8
|
UTSW |
19 |
4,050,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5909:Nudt8
|
UTSW |
19 |
4,050,727 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6621:Nudt8
|
UTSW |
19 |
4,051,320 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6962:Nudt8
|
UTSW |
19 |
4,051,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Nudt8
|
UTSW |
19 |
4,050,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Nudt8
|
UTSW |
19 |
4,051,690 (GRCm39) |
missense |
not run |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCATAGTCCCAGTACTTGCC -3'
(R):5'- TGCCAGAGGAGAGCTGTCAAACAC -3'
Sequencing Primer
(F):5'- TGTCCTAACAGGGGACTCAC -3'
(R):5'- GAGCTGTCAAACACTCTTTTAATCGG -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation