Incidental Mutation 'IGL01290:Nudt19'
| ID |
72876 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nudt19
|
| Ensembl Gene |
ENSMUSG00000034875 |
| Gene Name |
nudix hydrolase 19 |
| Synonyms |
D7Rp2-r, D7Rp2, D7RP2e, nudix (nucleoside diphosphate linked moiety X)-type motif 19, RP2-r, androgen regulated gene RP2, RP2-s, D7Rp2-s |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
35246610-35255729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35247501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 303
(S303P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040962]
|
| AlphaFold |
P11930 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040962
AA Change: S303P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047778
Gene: ENSMUSG00000034875
AA Change: S303P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
7 |
243 |
5.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142930
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Sun3 |
C |
T |
11: 8,973,341 (GRCm39) |
G119S |
possibly damaging |
Het |
| Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nudt19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Nudt19
|
APN |
7 |
35,247,336 (GRCm39) |
makesense |
probably null |
|
|
R0194:Nudt19
|
UTSW |
7 |
35,250,939 (GRCm39) |
missense |
probably benign |
|
|
R0687:Nudt19
|
UTSW |
7 |
35,250,897 (GRCm39) |
missense |
probably benign |
|
|
R4802:Nudt19
|
UTSW |
7 |
35,255,564 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5044:Nudt19
|
UTSW |
7 |
35,255,171 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5144:Nudt19
|
UTSW |
7 |
35,254,650 (GRCm39) |
missense |
probably benign |
|
|
R5704:Nudt19
|
UTSW |
7 |
35,250,972 (GRCm39) |
missense |
probably benign |
|
|
R5837:Nudt19
|
UTSW |
7 |
35,251,061 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6111:Nudt19
|
UTSW |
7 |
35,254,952 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8007:Nudt19
|
UTSW |
7 |
35,255,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-10-07 |
Incidental Mutation