Mutagenetix > Incidental Mutation

Incidental Mutation 'R4922:Neu4'

378662

Institutional Source

Beutler Lab

Gene Symbol

Neu4

Ensembl Gene

ENSMUSG00000034000

Gene Name

sialidase 4

Synonyms

MMRRC Submission

042524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93948215-93956056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93950200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 53 (V53E)

Ref Sequence

ENSEMBL: ENSMUSP00000140127 (fasta)

Gene Model

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

AlphaFold

Q8BZL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050890
AA Change: V30E

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: V30E

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 damaging
Transcript: ENSMUST00000190212
AA Change: V53E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: V53E

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

0.2334

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (76/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,901,645 (GRCm39)	C423F	probably damaging	Het
Akap11	A	T	14: 78,750,220 (GRCm39)	Y722*	probably null	Het
Albfm1	A	G	5: 90,727,570 (GRCm39)	H396R	possibly damaging	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Arfgef3	T	A	10: 18,467,934 (GRCm39)	R1755S	probably damaging	Het
Atf7ip	A	T	6: 136,537,039 (GRCm39)	T91S	possibly damaging	Het
Bcl2	C	A	1: 106,640,376 (GRCm39)	A79S	probably benign	Het
Bltp1	T	A	3: 37,041,314 (GRCm39)	I2564K	probably damaging	Het
Bmerb1	A	G	16: 13,804,683 (GRCm39)	H10R	possibly damaging	Het
Bmp10	C	T	6: 87,410,557 (GRCm39)	P117S	probably benign	Het
Bmpr2	A	G	1: 59,906,583 (GRCm39)	T559A	probably benign	Het
Cd200r1	A	T	16: 44,610,039 (GRCm39)	Y86F	probably damaging	Het
Cemip	T	A	7: 83,596,308 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,394,116 (GRCm39)	V335A	probably benign	Het
Cfap52	A	G	11: 67,822,548 (GRCm39)		probably null	Het
Chml	T	C	1: 175,514,712 (GRCm39)	H60R	possibly damaging	Het
Cic	TCCCCC	TCCCCCCCC	7: 24,991,095 (GRCm39)		probably benign	Het
Clec12a	A	G	6: 129,336,441 (GRCm39)	Y201C	probably damaging	Het
Col15a1	T	C	4: 47,258,719 (GRCm39)	V370A	probably benign	Het
Cpsf3	T	C	12: 21,351,538 (GRCm39)	I353T	probably damaging	Het
Csf2rb	T	A	15: 78,230,667 (GRCm39)	V470E	probably benign	Het
Cyp4a10	C	A	4: 115,378,291 (GRCm39)	Q126K	probably benign	Het
Dennd1b	T	C	1: 139,013,652 (GRCm39)	S249P	probably damaging	Het
Dnase2a	A	G	8: 85,635,625 (GRCm39)		probably null	Het
Dpp10	T	C	1: 123,305,882 (GRCm39)	N490S	probably benign	Het
Drgx	A	T	14: 32,330,363 (GRCm39)	N160I	probably damaging	Het
Enc1	C	T	13: 97,382,243 (GRCm39)	A251V	probably benign	Het
Fancd2	T	C	6: 113,562,434 (GRCm39)	V1258A	probably benign	Het
Fancm	G	A	12: 65,153,666 (GRCm39)		probably null	Het
Fbxo16	C	T	14: 65,536,657 (GRCm39)	T177I	probably benign	Het
Gm1965	T	C	6: 89,123,525 (GRCm39)		noncoding transcript	Het
Hal	A	T	10: 93,339,401 (GRCm39)	M497L	probably damaging	Het
Hectd4	T	C	5: 121,497,378 (GRCm39)	L3936S	possibly damaging	Het
Hs3st4	G	T	7: 123,996,410 (GRCm39)	G359W	probably damaging	Het
Il6st	C	T	13: 112,639,399 (GRCm39)	P608L	probably damaging	Het
Kctd18	A	C	1: 58,004,707 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,940,309 (GRCm39)	S1636T	probably damaging	Het
Lrrn1	A	T	6: 107,545,311 (GRCm39)	S370C	probably damaging	Het
Mtcl1	A	C	17: 66,655,474 (GRCm39)	C968G	probably benign	Het
Mylip	G	A	13: 45,562,238 (GRCm39)	A347T	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncoa4-ps	A	G	12: 119,226,252 (GRCm39)		noncoding transcript	Het
Nxpe3	T	C	16: 55,680,687 (GRCm39)	I302V	probably benign	Het
Or11i1	A	T	3: 106,729,576 (GRCm39)	C100S	probably damaging	Het
Or4c15b	A	T	2: 89,112,811 (GRCm39)	L243Q	possibly damaging	Het
Otos	T	C	1: 92,572,090 (GRCm39)	T79A	probably damaging	Het
Pde4a	T	C	9: 21,122,009 (GRCm39)	I578T	probably damaging	Het
Pramel17	T	A	4: 101,692,729 (GRCm39)	M424L	probably benign	Het
Prex2	C	T	1: 11,240,164 (GRCm39)	P927S	probably damaging	Het
Prune2	A	T	19: 17,100,116 (GRCm39)	K1873N	probably benign	Het
Ptk7	C	A	17: 46,887,417 (GRCm39)		probably null	Het
Reln	T	A	5: 22,200,585 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,151,749 (GRCm39)		probably benign	Het
Rnf145	T	A	11: 44,448,063 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,724,849 (GRCm39)	E2488G	probably damaging	Het
Sgo2b	A	T	8: 64,379,664 (GRCm39)	M1056K	possibly damaging	Het
Snapc4	A	G	2: 26,259,245 (GRCm39)	V635A	probably benign	Het
Snx19	T	A	9: 30,348,763 (GRCm39)	Y101N	probably benign	Het
Sorl1	C	A	9: 41,925,746 (GRCm39)		probably null	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Speer4a2	A	T	5: 26,289,791 (GRCm39)	I212N	probably damaging	Het
Tmem30b	G	A	12: 73,592,488 (GRCm39)	P209L	probably damaging	Het
Trbv12-2	G	T	6: 41,096,081 (GRCm39)	C52F	probably damaging	Het
Tsc2	T	A	17: 24,819,343 (GRCm39)	D1304V	probably benign	Het
Ugt2b36	T	C	5: 87,214,183 (GRCm39)	Y487C	probably damaging	Het
Vmn1r10	T	A	6: 57,090,811 (GRCm39)	N134K	probably damaging	Het
Wdr27	C	A	17: 15,141,016 (GRCm39)		probably null	Het
Wdr75	T	C	1: 45,855,638 (GRCm39)	F430L	probably damaging	Het
Zfp629	A	G	7: 127,211,299 (GRCm39)	I170T	probably damaging	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
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
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'- TGAGAAATCTGGGCTGAGGC -3'
(R):5'- TTGAGACTTCTGGAGCCTGG -3'

Sequencing Primer
(F):5'- CTGTGATCCATCCAATAGCTGAGG -3'
(R):5'- TTCTGGAGCCTGGCCTCAG -3'

Posted On

2016-04-15