Incidental Mutation 'IGL01607:Neu1'
| ID |
92302 |
| 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 # |
IGL01607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35150229-35154929 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35153692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 372
(N372I)
|
| 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: N372I
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: N372I
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,243,823 (GRCm39) |
K556E |
possibly damaging |
Het |
| Adgre4 |
A |
C |
17: 56,101,748 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
C |
T |
4: 153,516,736 (GRCm39) |
G202S |
probably damaging |
Het |
| Catsperb |
G |
T |
12: 101,446,985 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,200,778 (GRCm39) |
D393V |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,503,443 (GRCm39) |
T95A |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,673,209 (GRCm39) |
T67A |
probably benign |
Het |
| Dnaja3 |
T |
C |
16: 4,511,259 (GRCm39) |
F205L |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,222,720 (GRCm39) |
C584Y |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,122,800 (GRCm39) |
V545L |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,903,637 (GRCm39) |
L53P |
probably benign |
Het |
| Gm14184 |
C |
T |
11: 99,590,490 (GRCm39) |
C4Y |
unknown |
Het |
| Inpp4b |
C |
T |
8: 82,737,292 (GRCm39) |
A563V |
probably benign |
Het |
| Kcnc3 |
A |
G |
7: 44,240,728 (GRCm39) |
D140G |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,867,262 (GRCm39) |
M85K |
probably benign |
Het |
| Map4k2 |
C |
T |
19: 6,395,623 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,810,459 (GRCm39) |
Y652C |
probably damaging |
Het |
| Nuak2 |
G |
A |
1: 132,255,878 (GRCm39) |
V184I |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,524,950 (GRCm39) |
I85V |
probably damaging |
Het |
| Polr2e |
C |
A |
10: 79,875,467 (GRCm39) |
D3Y |
probably damaging |
Het |
| Ralb |
A |
G |
1: 119,411,279 (GRCm39) |
V20A |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,309,260 (GRCm39) |
V173D |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,673,152 (GRCm39) |
C304S |
probably damaging |
Het |
| Stk38l |
T |
C |
6: 146,673,725 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
G |
T |
7: 64,985,926 (GRCm39) |
D288E |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,964,491 (GRCm39) |
I1319V |
probably benign |
Het |
| Zic2 |
T |
G |
14: 122,716,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Neu1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02197:Neu1
|
APN |
17 |
35,153,641 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02442:Neu1
|
APN |
17 |
35,153,445 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation