Incidental Mutation 'IGL01968:Nt5el'
| ID |
181596 |
| 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 # |
IGL01968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
105218630-105258290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105256338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 469
(M469K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022232]
|
| AlphaFold |
Q9D3Z8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022232
AA Change: M469K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: M469K
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,977,913 (GRCm39) |
D497G |
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,611,263 (GRCm39) |
R856* |
probably null |
Het |
| Cfap90 |
T |
G |
13: 68,759,363 (GRCm39) |
H112Q |
probably damaging |
Het |
| Chodl |
T |
A |
16: 78,738,557 (GRCm39) |
S138T |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,875,572 (GRCm39) |
R465* |
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,786,978 (GRCm39) |
W358R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,090 (GRCm39) |
A1363E |
possibly damaging |
Het |
| Malt1 |
T |
A |
18: 65,582,087 (GRCm39) |
I317K |
probably benign |
Het |
| Mrps5 |
A |
G |
2: 127,433,827 (GRCm39) |
N72S |
probably null |
Het |
| Mst1r |
T |
A |
9: 107,794,005 (GRCm39) |
|
probably null |
Het |
| Nars1 |
A |
T |
18: 64,640,929 (GRCm39) |
C176S |
probably damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,555 (GRCm39) |
W149R |
probably damaging |
Het |
| Plxna4 |
T |
G |
6: 32,192,139 (GRCm39) |
D817A |
possibly damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,930,052 (GRCm39) |
P303S |
probably benign |
Het |
| Prkd2 |
G |
T |
7: 16,603,501 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,888,675 (GRCm39) |
H320L |
probably damaging |
Het |
| Use1 |
G |
A |
8: 71,819,711 (GRCm39) |
|
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,766 (GRCm39) |
D356G |
possibly 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 |
|
IGL02364:Nt5el
|
APN |
13 |
105,218,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation