Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02442:Neu1'

293446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Neu1

Ensembl Gene

ENSMUSG00000007038

Gene Name

neuraminidase 1

Synonyms

Apl, Neu-1, sialidase 1, lysosomal sialidase, G9, Map-2, Bat-7, Bat7, Aglp

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

34931253-34935953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34934469 bp

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]

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
1700006E09Rik	T	C	11: 101,990,826	V116A	probably benign	Het
Adap2	A	G	11: 80,177,206	E348G	probably damaging	Het
Ahnak	G	A	19: 9,004,016	G888D	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csde1	T	C	3: 103,054,819	C649R	probably benign	Het
Cym	A	C	3: 107,214,285	D230E	probably damaging	Het
Dnah1	A	T	14: 31,287,878	I1911N	probably damaging	Het
Fam60a	A	T	6: 148,928,507		probably null	Het
Fat1	A	G	8: 44,950,323	H37R	probably benign	Het
Ggt6	T	C	11: 72,436,806	V146A	possibly damaging	Het
Glud1	T	A	14: 34,335,438	L54*	probably null	Het
Grk6	A	G	13: 55,458,937		probably benign	Het
Gsta4	G	A	9: 78,209,165	V219I	probably benign	Het
Gucy1a2	G	A	9: 3,865,385	V620M	probably damaging	Het
Hspe1	T	C	1: 55,089,042		probably benign	Het
Icmt	T	C	4: 152,298,716	V76A	possibly damaging	Het
Ifrd1	A	G	12: 40,216,317		probably benign	Het
Lgals12	T	C	19: 7,606,654		probably benign	Het
Lypla1	T	C	1: 4,832,387		probably benign	Het
Map1b	A	T	13: 99,508,198	W66R	probably damaging	Het
Matn3	T	A	12: 8,967,678	C443*	probably null	Het
Mup8	T	A	4: 60,219,695	R191W	probably damaging	Het
Mycbp2	T	C	14: 103,314,375	K140R	probably benign	Het
Ndfip1	C	T	18: 38,447,736	S66L	probably damaging	Het
Nup205	A	T	6: 35,190,068	T341S	probably benign	Het
Olfr1303	G	A	2: 111,813,991	T245I	probably benign	Het
Olfr1466	T	A	19: 13,342,120	C121S	probably benign	Het
Olfr1469	T	A	19: 13,410,987	N139K	probably benign	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Pkd1	T	A	17: 24,565,226	S249T	probably benign	Het
Plekhg3	A	T	12: 76,578,353	Q1324L	probably benign	Het
Ppara	T	A	15: 85,801,143	V431E	probably benign	Het
Prkaa1	T	G	15: 5,176,888	H408Q	probably damaging	Het
Sap25	T	A	5: 137,641,995	N108K	probably benign	Het
Setd5	A	C	6: 113,110,380	I81L	possibly damaging	Het
Sri	T	A	5: 8,062,411	M78K	probably damaging	Het
Tyro3	A	G	2: 119,808,868	N352S	probably benign	Het
Ubr5	T	A	15: 38,037,901	E332V	possibly damaging	Het
Vmn2r19	G	T	6: 123,309,662	V85F	possibly damaging	Het
Vmn2r53	A	T	7: 12,581,729	V721D	probably damaging	Het
Vwa5a	A	G	9: 38,734,784	M483V	probably benign	Het
Zfp786	T	A	6: 47,821,367	Q212H	probably benign	Het

Other mutations in Neu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Neu1	APN	17	34934716	missense	probably benign	0.34
IGL02197:Neu1	APN	17	34934665	missense	possibly damaging	0.92
IGL02545:Neu1	APN	17	34931501	missense	probably benign	0.41
FR4340:Neu1	UTSW	17	34932558	unclassified	probably benign
R0331:Neu1	UTSW	17	34934170	missense	possibly damaging	0.62
R0508:Neu1	UTSW	17	34932784	missense	probably benign	0.07
R0646:Neu1	UTSW	17	34934760	missense	probably damaging	1.00
R0683:Neu1	UTSW	17	34934325	splice site	probably null
R1300:Neu1	UTSW	17	34934338	missense	possibly damaging	0.87
R1545:Neu1	UTSW	17	34934398	missense	probably benign	0.00
R1552:Neu1	UTSW	17	34932113	unclassified	probably benign
R2107:Neu1	UTSW	17	34934398	missense	probably benign	0.00
R2108:Neu1	UTSW	17	34934398	missense	probably benign	0.00
R2279:Neu1	UTSW	17	34934374	missense	probably damaging	1.00
R2291:Neu1	UTSW	17	34932766	missense	probably damaging	1.00
R2895:Neu1	UTSW	17	34932782	missense	probably benign	0.08
R4747:Neu1	UTSW	17	34934383	missense	possibly damaging	0.77
R6010:Neu1	UTSW	17	34932055	missense	probably damaging	1.00
R6122:Neu1	UTSW	17	34934754	missense	probably benign	0.00
R8490:Neu1	UTSW	17	34932006	missense	probably benign	0.00
RF034:Neu1	UTSW	17	34932558	unclassified	probably benign
RF045:Neu1	UTSW	17	34932558	unclassified	probably benign

Posted On

2015-04-16