Incidental Mutation 'R2369:Npl'
ID |
246419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npl
|
Ensembl Gene |
ENSMUSG00000042684 |
Gene Name |
N-acetylneuraminate pyruvate lyase |
Synonyms |
0610033B02Rik |
MMRRC Submission |
040349-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.353)
|
Stock # |
R2369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
153378762-153425460 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 153394623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041874]
|
AlphaFold |
Q9DCJ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041874
|
SMART Domains |
Protein: ENSMUSP00000037454 Gene: ENSMUSG00000042684
Domain | Start | End | E-Value | Type |
DHDPS
|
7 |
304 |
1.29e-72 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ahcyl1 |
T |
C |
3: 107,577,556 (GRCm39) |
D288G |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,408,849 (GRCm39) |
|
probably null |
Het |
Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
Paqr6 |
T |
C |
3: 88,273,260 (GRCm39) |
L84P |
probably damaging |
Het |
Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
Rassf4 |
A |
G |
6: 116,615,258 (GRCm39) |
F304L |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
probably benign |
Het |
|
Other mutations in Npl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02511:Npl
|
APN |
1 |
153,391,227 (GRCm39) |
missense |
probably damaging |
0.99 |
R0131:Npl
|
UTSW |
1 |
153,384,864 (GRCm39) |
nonsense |
probably null |
|
R0131:Npl
|
UTSW |
1 |
153,384,864 (GRCm39) |
nonsense |
probably null |
|
R0132:Npl
|
UTSW |
1 |
153,384,864 (GRCm39) |
nonsense |
probably null |
|
R0479:Npl
|
UTSW |
1 |
153,391,155 (GRCm39) |
missense |
probably damaging |
0.98 |
R3723:Npl
|
UTSW |
1 |
153,391,210 (GRCm39) |
missense |
probably benign |
0.22 |
R4655:Npl
|
UTSW |
1 |
153,391,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Npl
|
UTSW |
1 |
153,384,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5818:Npl
|
UTSW |
1 |
153,411,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5837:Npl
|
UTSW |
1 |
153,379,271 (GRCm39) |
missense |
probably benign |
0.00 |
R6010:Npl
|
UTSW |
1 |
153,388,314 (GRCm39) |
nonsense |
probably null |
|
R6301:Npl
|
UTSW |
1 |
153,394,627 (GRCm39) |
critical splice donor site |
probably null |
|
R7418:Npl
|
UTSW |
1 |
153,413,257 (GRCm39) |
splice site |
probably null |
|
R7990:Npl
|
UTSW |
1 |
153,413,230 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8004:Npl
|
UTSW |
1 |
153,379,286 (GRCm39) |
missense |
probably benign |
0.18 |
R9683:Npl
|
UTSW |
1 |
153,421,030 (GRCm39) |
missense |
possibly damaging |
0.55 |
X0065:Npl
|
UTSW |
1 |
153,413,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATTTCTTGATGGAAGGCTTAGG -3'
(R):5'- TGTCTGCATCTCACTGAACC -3'
Sequencing Primer
(F):5'- CAATACTTGGGTTTTGGACAAATGGC -3'
(R):5'- TCACTGAACCATTTCCTAATGCAG -3'
|
Posted On |
2014-10-30 |