Incidental Mutation 'IGL00814:Nt5c2'
ID | 12791 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5c2
|
Ensembl Gene |
ENSMUSG00000025041 |
Gene Name | 5'-nucleotidase, cytosolic II |
Synonyms | PNT5, NT5B, cN-II |
Accession Numbers | |
Is this an essential gene? |
Possibly non essential (E-score: 0.347)
|
Stock # | IGL00814
|
Quality Score | |
Status |
|
Chromosome | 19 |
Chromosomal Location | 46886831-47015153 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 46897648 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 212
(D212E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086961]
[ENSMUST00000168536]
[ENSMUST00000172239]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086961
AA Change: D212E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000084180 Gene: ENSMUSG00000025041 AA Change: D212E
Domain | Start | End | E-Value | Type |
Pfam:5_nucleotid
|
60 |
518 |
3.5e-185 |
PFAM |
low complexity region
|
574 |
585 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168536
AA Change: D187E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000129126 Gene: ENSMUSG00000025041 AA Change: D187E
Domain | Start | End | E-Value | Type |
Pfam:5_nucleotid
|
35 |
493 |
1.6e-185 |
PFAM |
low complexity region
|
549 |
560 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172239
AA Change: D213E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130898 Gene: ENSMUSG00000025041 AA Change: D213E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
Pfam:5_nucleotid
|
61 |
515 |
6.5e-179 |
PFAM |
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174731
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011] PHENOTYPE: Bone marrow cells with a nucleotide substitution allele used in a transplantation experiment following tamoxifen-induction produce NOTCH1-induced tumors that are resistant to 6-mercaptopurine chemotherapy. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cops6 |
G |
T |
5: 138,163,378 |
R58L |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,286,724 |
M262K |
probably damaging |
Het |
Faim |
G |
A |
9: 98,992,165 |
G15R |
probably damaging |
Het |
Gria4 |
A |
T |
9: 4,472,202 |
M429K |
probably damaging |
Het |
Hipk2 |
G |
A |
6: 38,818,549 |
R262W |
probably damaging |
Het |
Kif23 |
A |
T |
9: 61,937,107 |
I143K |
possibly damaging |
Het |
Mbtd1 |
T |
A |
11: 93,943,840 |
S615T |
possibly damaging |
Het |
Nlrp9c |
C |
T |
7: 26,384,750 |
S468N |
probably benign |
Het |
Olfr596 |
A |
T |
7: 103,309,807 |
I29L |
probably benign |
Het |
Pck2 |
T |
C |
14: 55,548,299 |
|
probably benign |
Het |
Pdcd6ip |
T |
C |
9: 113,687,653 |
Q230R |
probably damaging |
Het |
Pomk |
T |
C |
8: 25,983,596 |
T110A |
probably benign |
Het |
Psg23 |
C |
T |
7: 18,614,683 |
W66* |
probably null |
Het |
Rnf144b |
T |
C |
13: 47,220,488 |
|
probably benign |
Het |
Sppl2c |
G |
A |
11: 104,186,979 |
G202S |
possibly damaging |
Het |
Thnsl2 |
A |
C |
6: 71,139,883 |
L95R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,807,167 |
V12248A |
probably benign |
Het |
|
Other mutations in Nt5c2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Nt5c2
|
APN |
19 |
46896515 |
missense |
possibly damaging |
0.91 |
IGL02347:Nt5c2
|
APN |
19 |
46924256 |
splice site |
probably benign |
|
IGL02630:Nt5c2
|
APN |
19 |
46924310 |
missense |
probably benign |
0.00 |
tightrope
|
UTSW |
19 |
46924327 |
missense |
probably damaging |
1.00 |
R0565:Nt5c2
|
UTSW |
19 |
46897625 |
missense |
probably damaging |
0.99 |
R0825:Nt5c2
|
UTSW |
19 |
46898905 |
unclassified |
probably benign |
|
R0980:Nt5c2
|
UTSW |
19 |
46898878 |
missense |
probably benign |
|
R1496:Nt5c2
|
UTSW |
19 |
46904978 |
missense |
probably damaging |
1.00 |
R2394:Nt5c2
|
UTSW |
19 |
46890067 |
critical splice donor site |
probably null |
|
R3854:Nt5c2
|
UTSW |
19 |
46896518 |
missense |
probably damaging |
1.00 |
R3855:Nt5c2
|
UTSW |
19 |
46896518 |
missense |
probably damaging |
1.00 |
R3856:Nt5c2
|
UTSW |
19 |
46896518 |
missense |
probably damaging |
1.00 |
R4534:Nt5c2
|
UTSW |
19 |
46891661 |
missense |
probably damaging |
1.00 |
R4907:Nt5c2
|
UTSW |
19 |
46896539 |
missense |
possibly damaging |
0.71 |
R5122:Nt5c2
|
UTSW |
19 |
46889921 |
missense |
probably damaging |
1.00 |
R5203:Nt5c2
|
UTSW |
19 |
46889808 |
missense |
probably damaging |
1.00 |
R5226:Nt5c2
|
UTSW |
19 |
46898629 |
missense |
probably damaging |
1.00 |
R5254:Nt5c2
|
UTSW |
19 |
46893560 |
nonsense |
probably null |
|
R5315:Nt5c2
|
UTSW |
19 |
46892243 |
missense |
probably damaging |
1.00 |
R6401:Nt5c2
|
UTSW |
19 |
46889811 |
missense |
probably benign |
0.11 |
R6784:Nt5c2
|
UTSW |
19 |
46924327 |
missense |
probably damaging |
1.00 |
R7040:Nt5c2
|
UTSW |
19 |
46893535 |
missense |
possibly damaging |
0.52 |
R7414:Nt5c2
|
UTSW |
19 |
46889889 |
missense |
probably damaging |
1.00 |
R7792:Nt5c2
|
UTSW |
19 |
46889946 |
missense |
probably benign |
0.02 |
R7793:Nt5c2
|
UTSW |
19 |
46891581 |
missense |
probably benign |
0.23 |
R8380:Nt5c2
|
UTSW |
19 |
46889050 |
missense |
probably damaging |
1.00 |
X0028:Nt5c2
|
UTSW |
19 |
46891615 |
missense |
probably damaging |
1.00 |
X0065:Nt5c2
|
UTSW |
19 |
46890088 |
missense |
possibly damaging |
0.62 |
|
Posted On | 2012-12-06 |