Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Neu4'

177870

Institutional Source

Beutler Lab

Gene Symbol

Neu4

Ensembl Gene

ENSMUSG00000034000

Gene Name

sialidase 4

Synonyms

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

93948215-93956056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93953060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 476 (D476E)

Ref Sequence

ENSEMBL: ENSMUSP00000140127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050890] [ENSMUST00000190212]

AlphaFold

Q8BZL1

Predicted Effect

probably benign
Transcript: ENSMUST00000050890
AA Change: D453E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: D453E

Domain	Start	End	E-Value	Type
Pfam:BNR_3	24	256	5.8e-10	PFAM
Pfam:BNR_2	34	270	2e-29	PFAM
SCOP:d3sil__	371	448	4e-12	SMART
PDB:2F13\|A	371	455	8e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000190212
AA Change: D476E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: D476E

Domain	Start	End	E-Value	Type
Pfam:BNR_3	47	279	1.6e-6	PFAM
Pfam:BNR_2	58	304	4.6e-25	PFAM
SCOP:d3sil__	394	471	4e-12	SMART
PDB:2F29\|B	394	478	1e-11	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cpne2	T	A	8: 95,282,681 (GRCm39)	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	Het

Other mutations in Neu4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02367:Neu4	APN	1	93,952,213 (GRCm39)	missense	probably damaging	1.00
IGL03348:Neu4	APN	1	93,952,696 (GRCm39)	missense	possibly damaging	0.77
R0018:Neu4	UTSW	1	93,953,060 (GRCm39)	missense	probably benign	0.00
R0645:Neu4	UTSW	1	93,950,191 (GRCm39)	missense	probably damaging	1.00
R0813:Neu4	UTSW	1	93,950,598 (GRCm39)	frame shift	probably null
R0814:Neu4	UTSW	1	93,950,598 (GRCm39)	frame shift	probably null
R2056:Neu4	UTSW	1	93,950,172 (GRCm39)	missense	possibly damaging	0.77
R4354:Neu4	UTSW	1	93,952,279 (GRCm39)	missense	probably damaging	1.00
R4922:Neu4	UTSW	1	93,950,200 (GRCm39)	missense	probably damaging	0.98
R5156:Neu4	UTSW	1	93,952,177 (GRCm39)	missense	probably damaging	1.00
R5268:Neu4	UTSW	1	93,952,669 (GRCm39)	missense	probably benign	0.18
R5447:Neu4	UTSW	1	93,950,140 (GRCm39)	missense	probably damaging	1.00
R5862:Neu4	UTSW	1	93,950,652 (GRCm39)	missense	probably benign	0.20
R6280:Neu4	UTSW	1	93,952,873 (GRCm39)	missense	probably damaging	1.00
R6697:Neu4	UTSW	1	93,952,752 (GRCm39)	missense	probably benign	0.00
R7192:Neu4	UTSW	1	93,952,863 (GRCm39)	missense	probably benign	0.01
R7533:Neu4	UTSW	1	93,950,122 (GRCm39)	missense	probably benign	0.38
R9395:Neu4	UTSW	1	93,950,218 (GRCm39)	missense	probably damaging	1.00
Z1176:Neu4	UTSW	1	93,952,972 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ATGGGAATCTACCTGAGCCGATCC -3'
(R):5'- AGCACTGACACCCAAGCTTTGATG -3'

Sequencing Primer
(F):5'- TGAGCCGATCCCCCTTG -3'
(R):5'- TCTCATTTGCACTCAGAAAGC -3'

Posted On

2014-04-30