Incidental Mutation 'R2427:Nt5el'
| ID |
250287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5el
|
| Ensembl Gene |
ENSMUSG00000021718 |
| Gene Name |
5' nucleotidase, ecto-like |
| Synonyms |
4933425L06Rik |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
105218630-105258290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105246269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 277
(F277L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022232]
|
| AlphaFold |
Q9D3Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022232
AA Change: F277L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000022232
Gene: ENSMUSG00000021718
AA Change: F277L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,806,851 (GRCm39) |
L531F |
probably damaging |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTTGTGATCGCCATG -3'
(R):5'- TTAGTGTCGCTCATCAATCACAG -3'
Sequencing Primer
(F):5'- TTGTGATCGCCATGACGCAC -3'
(R):5'- CAATCACAGGCTATGATGTGGTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation