Incidental Mutation 'IGL02364:Nt5el'
ID |
290661 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5el
|
Ensembl Gene |
ENSMUSG00000021718 |
Gene Name |
5' nucleotidase, ecto-like |
Synonyms |
4933425L06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02364
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
105218630-105258290 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105218808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 47
(D47E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022232]
|
AlphaFold |
Q9D3Z8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022232
AA Change: D47E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022232 Gene: ENSMUSG00000021718 AA Change: D47E
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:Metallophos
|
40 |
245 |
4.8e-12 |
PFAM |
Pfam:5_nucleotid_C
|
314 |
472 |
4.1e-42 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bdp1 |
A |
T |
13: 100,191,816 (GRCm39) |
|
probably benign |
Het |
Car8 |
T |
C |
4: 8,183,321 (GRCm39) |
I225V |
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,892,792 (GRCm39) |
N1390K |
probably damaging |
Het |
Coasy |
T |
C |
11: 100,975,184 (GRCm39) |
V247A |
possibly damaging |
Het |
Dgkq |
A |
G |
5: 108,804,310 (GRCm39) |
V50A |
probably benign |
Het |
Dixdc1 |
A |
T |
9: 50,593,931 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
G |
A |
9: 54,301,127 (GRCm39) |
A2328V |
probably benign |
Het |
Exoc3l |
C |
A |
8: 106,017,209 (GRCm39) |
V593L |
possibly damaging |
Het |
Eya3 |
T |
C |
4: 132,437,366 (GRCm39) |
S409P |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,713 (GRCm39) |
N310S |
probably benign |
Het |
Gbp4 |
A |
T |
5: 105,284,740 (GRCm39) |
S50T |
probably damaging |
Het |
Gm5885 |
A |
G |
6: 133,507,092 (GRCm39) |
|
noncoding transcript |
Het |
H2ap |
G |
T |
X: 9,713,629 (GRCm39) |
|
probably benign |
Het |
Igkv12-89 |
A |
T |
6: 68,811,970 (GRCm39) |
Y66* |
probably null |
Het |
Itgax |
G |
A |
7: 127,739,154 (GRCm39) |
V601M |
possibly damaging |
Het |
Kank3 |
T |
C |
17: 34,037,824 (GRCm39) |
V291A |
probably benign |
Het |
Klhl9 |
A |
G |
4: 88,639,407 (GRCm39) |
M278T |
probably damaging |
Het |
Lrrc43 |
G |
A |
5: 123,639,275 (GRCm39) |
D435N |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,188,851 (GRCm39) |
S292T |
probably damaging |
Het |
Mchr1 |
G |
A |
15: 81,121,480 (GRCm39) |
V77I |
probably benign |
Het |
Mga |
T |
A |
2: 119,794,535 (GRCm39) |
C2622S |
possibly damaging |
Het |
Neb |
G |
T |
2: 52,186,266 (GRCm39) |
Y935* |
probably null |
Het |
Phf20 |
A |
G |
2: 156,136,017 (GRCm39) |
E612G |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,271,007 (GRCm39) |
L3182P |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,986,667 (GRCm39) |
V337A |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,923,117 (GRCm39) |
|
noncoding transcript |
Het |
Sorcs1 |
G |
A |
19: 50,322,036 (GRCm39) |
P249L |
probably damaging |
Het |
Spata13 |
C |
T |
14: 60,928,723 (GRCm39) |
R94C |
probably damaging |
Het |
Stk38 |
C |
T |
17: 29,210,390 (GRCm39) |
R63Q |
probably benign |
Het |
Tmem220 |
C |
A |
11: 66,925,014 (GRCm39) |
H174N |
probably benign |
Het |
Tmem68 |
C |
A |
4: 3,560,536 (GRCm39) |
R216L |
probably damaging |
Het |
Trim29 |
G |
A |
9: 43,222,599 (GRCm39) |
V143M |
probably benign |
Het |
Ubqln2 |
T |
C |
X: 152,282,906 (GRCm39) |
L486P |
possibly damaging |
Het |
Usp17le |
G |
A |
7: 104,417,982 (GRCm39) |
Q387* |
probably null |
Het |
Vps33b |
A |
G |
7: 79,937,587 (GRCm39) |
E445G |
probably damaging |
Het |
|
Other mutations in Nt5el |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00862:Nt5el
|
APN |
13 |
105,255,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01099:Nt5el
|
APN |
13 |
105,245,868 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01540:Nt5el
|
APN |
13 |
105,218,761 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01968:Nt5el
|
APN |
13 |
105,256,338 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02447:Nt5el
|
APN |
13 |
105,236,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R0534:Nt5el
|
UTSW |
13 |
105,218,762 (GRCm39) |
nonsense |
probably null |
|
R1486:Nt5el
|
UTSW |
13 |
105,246,291 (GRCm39) |
missense |
probably benign |
0.26 |
R1543:Nt5el
|
UTSW |
13 |
105,248,877 (GRCm39) |
nonsense |
probably null |
|
R1544:Nt5el
|
UTSW |
13 |
105,246,129 (GRCm39) |
missense |
probably benign |
0.00 |
R1631:Nt5el
|
UTSW |
13 |
105,218,749 (GRCm39) |
missense |
probably benign |
|
R1807:Nt5el
|
UTSW |
13 |
105,218,744 (GRCm39) |
missense |
probably benign |
|
R1835:Nt5el
|
UTSW |
13 |
105,218,702 (GRCm39) |
missense |
unknown |
|
R2427:Nt5el
|
UTSW |
13 |
105,246,269 (GRCm39) |
missense |
probably benign |
0.03 |
R2504:Nt5el
|
UTSW |
13 |
105,246,250 (GRCm39) |
missense |
probably benign |
0.09 |
R4353:Nt5el
|
UTSW |
13 |
105,255,253 (GRCm39) |
missense |
probably benign |
0.14 |
R4949:Nt5el
|
UTSW |
13 |
105,246,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R6242:Nt5el
|
UTSW |
13 |
105,246,048 (GRCm39) |
missense |
probably benign |
0.00 |
R6376:Nt5el
|
UTSW |
13 |
105,256,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6615:Nt5el
|
UTSW |
13 |
105,248,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R7610:Nt5el
|
UTSW |
13 |
105,247,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R7773:Nt5el
|
UTSW |
13 |
105,218,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R7985:Nt5el
|
UTSW |
13 |
105,256,482 (GRCm39) |
missense |
probably benign |
0.22 |
R8171:Nt5el
|
UTSW |
13 |
105,246,291 (GRCm39) |
missense |
probably benign |
0.26 |
R8429:Nt5el
|
UTSW |
13 |
105,255,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Nt5el
|
UTSW |
13 |
105,246,114 (GRCm39) |
missense |
probably benign |
0.00 |
R9497:Nt5el
|
UTSW |
13 |
105,236,987 (GRCm39) |
missense |
probably damaging |
0.97 |
X0024:Nt5el
|
UTSW |
13 |
105,249,019 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Nt5el
|
UTSW |
13 |
105,218,759 (GRCm39) |
missense |
probably benign |
|
Z1176:Nt5el
|
UTSW |
13 |
105,247,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |