Incidental Mutation 'IGL02545:Neu1'
| ID |
297797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Neu1
|
| Ensembl Gene |
ENSMUSG00000007038 |
| Gene Name |
neuraminidase 1 |
| Synonyms |
sialidase 1, Bat7, Map-2, Aglp, lysosomal sialidase, G9, Apl, Neu-1, Bat-7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35150229-35154929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35150477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 32
(V32E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007249]
[ENSMUST00000007253]
[ENSMUST00000169230]
|
| AlphaFold |
O35657 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007249
|
| SMART Domains |
Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
311 |
674 |
5.4e-119 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007253
AA Change: V32E
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: V32E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:BNR_3
|
74 |
249 |
1e-16 |
PFAM |
|
Pfam:BNR_2
|
82 |
377 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169230
|
| SMART Domains |
Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
74 |
96 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
157 |
524 |
3.9e-129 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174715
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,994 (GRCm39) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,590,684 (GRCm39) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,222,645 (GRCm39) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,850 (GRCm39) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,335,636 (GRCm39) |
F167L |
probably benign |
Het |
| Ctcf |
A |
G |
8: 106,391,013 (GRCm39) |
T207A |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,525,838 (GRCm39) |
H580R |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,177 (GRCm39) |
D53G |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,939,271 (GRCm39) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,093,095 (GRCm39) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,847,715 (GRCm39) |
T202A |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,607,009 (GRCm39) |
Y214C |
probably damaging |
Het |
| Gna14 |
T |
A |
19: 16,511,090 (GRCm39) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,043,153 (GRCm39) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,359 (GRCm39) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,014,506 (GRCm39) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,797,272 (GRCm39) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,082,853 (GRCm39) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,891,011 (GRCm39) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,338 (GRCm39) |
F72L |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,833 (GRCm39) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,853,060 (GRCm39) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,706,280 (GRCm39) |
V340A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,468,998 (GRCm39) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,481,306 (GRCm39) |
W210* |
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,079 (GRCm39) |
Y511H |
probably damaging |
Het |
| Psme4 |
T |
G |
11: 30,791,586 (GRCm39) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,654,754 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,146,296 (GRCm39) |
|
probably benign |
Het |
| Trim54 |
T |
A |
5: 31,289,509 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,388,357 (GRCm39) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,113 (GRCm39) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,655,798 (GRCm39) |
M406K |
possibly damaging |
Het |
|
| Other mutations in Neu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Neu1
|
APN |
17 |
35,153,692 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02197:Neu1
|
APN |
17 |
35,153,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02442:Neu1
|
APN |
17 |
35,153,445 (GRCm39) |
missense |
probably benign |
|
|
FR4340:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
R0331:Neu1
|
UTSW |
17 |
35,153,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0508:Neu1
|
UTSW |
17 |
35,151,760 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0646:Neu1
|
UTSW |
17 |
35,153,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0683:Neu1
|
UTSW |
17 |
35,153,301 (GRCm39) |
splice site |
probably null |
|
|
R1300:Neu1
|
UTSW |
17 |
35,153,314 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1545:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1552:Neu1
|
UTSW |
17 |
35,151,089 (GRCm39) |
unclassified |
probably benign |
|
|
R2107:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2108:Neu1
|
UTSW |
17 |
35,153,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2279:Neu1
|
UTSW |
17 |
35,153,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Neu1
|
UTSW |
17 |
35,151,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2895:Neu1
|
UTSW |
17 |
35,151,758 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4747:Neu1
|
UTSW |
17 |
35,153,359 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6010:Neu1
|
UTSW |
17 |
35,151,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Neu1
|
UTSW |
17 |
35,153,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8490:Neu1
|
UTSW |
17 |
35,150,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Neu1
|
UTSW |
17 |
35,150,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9591:Neu1
|
UTSW |
17 |
35,150,474 (GRCm39) |
missense |
probably benign |
0.28 |
|
RF034:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
RF045:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation