Mutagenetix > Incidental Mutation

Incidental Mutation 'R5156:Neu4'

396708

Institutional Source

Beutler Lab

Gene Symbol

Neu4

Ensembl Gene

ENSMUSG00000034000

Gene Name

sialidase 4

Synonyms

MMRRC Submission

042738-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5156 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93948215-93956056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93952177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 182 (V182A)

Ref Sequence

ENSEMBL: ENSMUSP00000140127 (fasta)

Gene Model

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

AlphaFold

Q8BZL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050890
AA Change: V159A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: V159A

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: V182A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: V182A

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

0.4562

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,638 (GRCm39)		probably benign	Het
Apeh	C	T	9: 107,971,486 (GRCm39)	A29T	probably damaging	Het
Arap2	A	T	5: 62,826,524 (GRCm39)	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Asf1b	T	C	8: 84,682,540 (GRCm39)	F28S	probably damaging	Het
Cd46	T	A	1: 194,767,693 (GRCm39)	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,309,370 (GRCm39)	T48S	probably damaging	Het
Cfap53	T	A	18: 74,492,838 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,511,599 (GRCm39)	T599S	probably benign	Het
Csf1	T	A	3: 107,656,252 (GRCm39)	T148S	probably benign	Het
Dmbt1	T	C	7: 130,699,400 (GRCm39)		probably null	Het
Dmpk	A	G	7: 18,818,050 (GRCm39)	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,728,782 (GRCm39)	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,595,264 (GRCm39)	M1392K	probably benign	Het
Edrf1	C	T	7: 133,261,908 (GRCm39)	A867V	probably damaging	Het
Efemp2	T	A	19: 5,527,706 (GRCm39)	C94S	possibly damaging	Het
Epha8	C	T	4: 136,666,037 (GRCm39)	S373N	probably benign	Het
Foxk1	A	G	5: 142,434,588 (GRCm39)	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,678,366 (GRCm39)	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,358,665 (GRCm39)		noncoding transcript	Het
Gm6818	A	T	7: 38,101,471 (GRCm39)		noncoding transcript	Het
Hydin	T	A	8: 111,336,333 (GRCm39)	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,719,448 (GRCm39)	M492K	probably damaging	Het
Krt20	G	T	11: 99,320,879 (GRCm39)	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,653,094 (GRCm39)	R107S	probably benign	Het
Mia2	A	G	12: 59,219,323 (GRCm39)	T436A	possibly damaging	Het
Muc19	T	A	15: 91,784,614 (GRCm39)		noncoding transcript	Het
Notch2	T	G	3: 98,031,626 (GRCm39)	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,360,277 (GRCm39)	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,765,487 (GRCm39)	I172F	probably damaging	Het
Or5b118	G	T	19: 13,449,037 (GRCm39)	K234N	probably damaging	Het
Or5w15	G	A	2: 87,568,119 (GRCm39)	P183L	possibly damaging	Het
Or8k41	A	T	2: 86,313,362 (GRCm39)	C241*	probably null	Het
Plekha5	C	T	6: 140,372,254 (GRCm39)	T68M	probably damaging	Het
Ppef2	A	G	5: 92,392,461 (GRCm39)		probably null	Het
Ppp1r37	T	C	7: 19,295,900 (GRCm39)		probably benign	Het
Rfx4	T	C	10: 84,704,218 (GRCm39)	Y238H	probably damaging	Het
Sanbr	A	G	11: 23,543,424 (GRCm39)		probably null	Het
Sec13	G	A	6: 113,707,837 (GRCm39)	A161V	probably benign	Het
Serhl	G	A	15: 82,986,895 (GRCm39)		probably benign	Het
Slco4a1	T	C	2: 180,114,572 (GRCm39)	V588A	probably benign	Het
Slitrk3	T	C	3: 72,956,592 (GRCm39)	T727A	probably benign	Het
Sp100	T	A	1: 85,601,404 (GRCm39)	D241E	probably damaging	Het
Spata2	G	T	2: 167,325,494 (GRCm39)	H442N	probably damaging	Het
Speg	T	C	1: 75,404,731 (GRCm39)	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,578,155 (GRCm39)	S141P	probably damaging	Het
Trank1	A	G	9: 111,219,762 (GRCm39)	I2166M	probably damaging	Het
Trim10	T	A	17: 37,187,948 (GRCm39)	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 109,143,466 (GRCm39)	V828A	probably benign	Het
Vmn2r75	T	A	7: 85,813,436 (GRCm39)	L455F	possibly damaging	Het
Vwa8	T	A	14: 79,221,666 (GRCm39)	S541T	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
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
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'- TGCCTTCCACATGCCCATAG -3'
(R):5'- AGAAAGTCTCCATCTACCGCAG -3'

Sequencing Primer
(F):5'- TTCCACATGCCCATAGTTACAAATAC -3'
(R):5'- ACTCTCCAGAGCGTAGGTTG -3'

Posted On

2016-06-21