Incidental Mutation 'IGL02442:Neu1'
| ID |
293446 |
| 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 # |
IGL02442
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35150229-35154929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35153445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 323
(I323V)
|
| 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: I323V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: I323V
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
| Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
| Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
| Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
| Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
| Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
| Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
| Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
| Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
| Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
| Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
| Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
| Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
| Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
| Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
| Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
| Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
| Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
| Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
| Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,646,080 (GRCm39) |
M483V |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
probably benign |
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 |
|
IGL02545:Neu1
|
APN |
17 |
35,150,477 (GRCm39) |
missense |
probably benign |
0.41 |
|
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