Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01149:Neu3'

51671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Neu3

Ensembl Gene

ENSMUSG00000035239

Gene Name

neuraminidase 3

Synonyms

ganglioside sialidase, membrane sialidase

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01149

Quality Score

Status

Chromosome

Chromosomal Location

99811439-99828417 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99813880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 212 (H212R)

Ref Sequence

ENSEMBL: ENSMUSP00000045222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036331]

AlphaFold

Q9JMH7

Predicted Effect

probably benign
Transcript: ENSMUST00000036331
AA Change: H212R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000045222
Gene: ENSMUSG00000035239
AA Change: H212R

Domain	Start	End	E-Value	Type
Pfam:BNR_2	36	382	6.2e-40	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased colon carcinogenesis induced by azoxymethane and dextran sodium sulfate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4632415L05Rik	A	G	3: 19,895,112		noncoding transcript	Het
Adcy1	A	C	11: 7,137,385	N420H	probably damaging	Het
Avp	T	C	2: 130,580,673		probably benign	Het
B3galnt2	A	T	13: 13,980,685	I216F	probably benign	Het
Cdc42bpa	T	C	1: 180,074,572	S465P	probably damaging	Het
Cdc42bpg	T	A	19: 6,312,205		probably benign	Het
Cdcp2	T	C	4: 107,107,111	F386S	probably benign	Het
Cdh4	A	G	2: 179,874,144	T372A	probably damaging	Het
Clspn	T	G	4: 126,573,178	M612R	probably damaging	Het
Dll4	T	C	2: 119,331,109	C391R	probably damaging	Het
Dll4	T	C	2: 119,332,745	Y616H	probably damaging	Het
Exoc1	A	G	5: 76,542,244		probably benign	Het
F830045P16Rik	A	G	2: 129,460,312		probably null	Het
Fhod1	A	G	8: 105,347,807		probably benign	Het
Fign	T	C	2: 63,979,760	R389G	possibly damaging	Het
Gm13941	T	A	2: 111,101,137	E50V	unknown	Het
Gm436	T	C	4: 144,673,779	D143G	probably benign	Het
Kit	C	T	5: 75,610,876	T231M	probably damaging	Het
Nup214	G	T	2: 32,034,700	S1747I	probably damaging	Het
Olfr1289	T	C	2: 111,484,101	S224P	probably damaging	Het
Olfr735	G	T	14: 50,345,614	A276E	probably damaging	Het
Olfr870	G	T	9: 20,171,530	L14I	probably damaging	Het
Secisbp2	T	C	13: 51,676,455		probably null	Het
Slc26a10	G	A	10: 127,174,177		probably benign	Het
Slc7a6	T	C	8: 106,179,600	S155P	probably damaging	Het
Slf1	A	T	13: 77,112,648	I173N	probably damaging	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tkfc	A	G	19: 10,600,651	L38P	probably damaging	Het
Tubgcp4	A	G	2: 121,184,783	D324G	probably null	Het
Zfyve16	T	C	13: 92,508,283	H1137R	probably damaging	Het

Other mutations in Neu3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Neu3	APN	7	99813422	missense	probably damaging	1.00
IGL01530:Neu3	APN	7	99813746	missense	probably benign	0.00
R0395:Neu3	UTSW	7	99813778	missense	probably benign
R0519:Neu3	UTSW	7	99823317	splice site	probably benign
R0555:Neu3	UTSW	7	99814183	missense	probably damaging	1.00
R1659:Neu3	UTSW	7	99813433	missense	probably damaging	0.99
R1706:Neu3	UTSW	7	99823356	missense	probably damaging	0.99
R1893:Neu3	UTSW	7	99823420	missense	possibly damaging	0.81
R2271:Neu3	UTSW	7	99813443	missense	probably benign	0.00
R2472:Neu3	UTSW	7	99813407	missense	probably damaging	1.00
R4962:Neu3	UTSW	7	99823408	missense	probably damaging	1.00
R5589:Neu3	UTSW	7	99823429	missense	probably benign	0.01
R5932:Neu3	UTSW	7	99813318	nonsense	probably null
R6307:Neu3	UTSW	7	99813722	missense	probably benign
R7072:Neu3	UTSW	7	99814197	nonsense	probably null
R7099:Neu3	UTSW	7	99813820	missense	possibly damaging	0.51
R7582:Neu3	UTSW	7	99813967	missense	probably benign	0.02
R8057:Neu3	UTSW	7	99814228	missense	probably benign	0.08
R8497:Neu3	UTSW	7	99823135	splice site	probably null
X0023:Neu3	UTSW	7	99813604	missense	probably benign	0.00

Posted On

2013-06-21