Incidental Mutation 'RF034:Neu1'
| ID |
604501 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF034 (G1)
|
| Quality Score |
214.459 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35150229-35154929 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TCTTCTA to T
at 35151534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132965
(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
|
| SMART Domains |
Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCGGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTACATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
GAGAAGGCAC |
G |
7: 80,742,162 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
TTATTATGATTATTAC |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGATGTGACAGACACACTG |
CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG |
9: 86,922,470 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGTA |
9: 86,922,500 (GRCm39) |
|
probably null |
Het |
| Defb22 |
TGCGGCA |
TGCGGCAGGGCTGGCCTTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGCGGAGCACAGTTCCTACCTCGTT |
GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,416 (GRCm39) |
|
probably null |
Het |
| Fbrsl1 |
GTG |
GTGCGTGTGCTGTTG |
5: 110,526,015 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCTGTCTC |
X: 71,314,368 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
GGGTCTGAGGGAGGA |
GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA |
7: 44,149,947 (GRCm39) |
|
probably null |
Het |
| Gm15155 |
CAA |
CAACAACAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTAGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CACCACAGC |
CACCACAGCCACAGCGACCACAGC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCGGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CCAGCTCCAGCTCCA |
CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA |
2: 121,136,788 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
| Or7g32 |
G |
T |
9: 19,388,928 (GRCm39) |
A206E |
possibly damaging |
Het |
| Pdik1l |
TTTT |
TTTTGTTTTTGGTTT |
4: 134,006,685 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
CACTCATGGTCCTGTAGAGCAATGGGGATTC |
CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,771 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
CTGTAGAGCAATGGGGATTC |
CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC |
5: 90,756,782 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATGGTCCTGTAGAGCAATGGGGATTC |
ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,776 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAGGA |
AGA |
14: 52,386,983 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC |
AGAGGCTGTGGTGCTC |
3: 95,673,632 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGAGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCGGC |
GCGGCATCGGC |
8: 85,682,804 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
CA |
CACCAAGA |
19: 26,608,411 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,023 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
AGC |
AGCTGGC |
8: 107,788,228 (GRCm39) |
|
probably null |
Het |
| Tomm5 |
TCTTCCGC |
TCTTCCGCAGCTTCCGC |
4: 45,107,976 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TG |
TGATGCTGCTGCTGCGG |
15: 72,673,147 (GRCm39) |
|
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 |
|
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 |
|
RF045:Neu1
|
UTSW |
17 |
35,151,534 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACCAGAGGATGAATTTTGTCC -3'
(R):5'- AGGAAATGCCGTCGTCCTTAC -3'
Sequencing Primer
(F):5'- AGGATGAATTTTGTCCATAGTTTCTG -3'
(R):5'- GTCGTCCTTACTCCAAACCAACATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation