Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02616:Vps4a'

300659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps4a

Ensembl Gene

ENSMUSG00000031913

Gene Name

vacuolar protein sorting 4A

Synonyms

4930589C15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02616

Quality Score

Status

Chromosome

Chromosomal Location

107757901-107772392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107768909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 236 (R236W)

Ref Sequence

ENSEMBL: ENSMUSP00000034388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034388] [ENSMUST00000034391] [ENSMUST00000055316] [ENSMUST00000095517]

AlphaFold

Q8VEJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034388
AA Change: R236W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913
AA Change: R236W

Domain	Start	End	E-Value	Type
MIT	2	80	2.02e-27	SMART
low complexity region	90	102	N/A	INTRINSIC
AAA	159	295	2.89e-22	SMART
Blast:AAA	329	358	8e-9	BLAST
Pfam:Vps4_C	374	434	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034391

SMART Domains

Protein: ENSMUSP00000034391
Gene: ENSMUSG00000031916

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055316

SMART Domains

Protein: ENSMUSP00000138676
Gene: ENSMUSG00000078931

Domain	Start	End	E-Value	Type
Pfam:Pep_deformylase	52	222	2.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095517

SMART Domains

Protein: ENSMUSP00000093173
Gene: ENSMUSG00000031916

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:Dor1	56	394	7.6e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144527

Predicted Effect

probably benign
Transcript: ENSMUST00000154271

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 member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,644 (GRCm39)	R190G	probably benign	Het
4931406B18Rik	T	C	7: 43,150,437 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,020,971 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,982,991 (GRCm39)	P1425Q	probably benign	Het
Arih1	A	G	9: 59,319,759 (GRCm39)	V285A	probably benign	Het
Atp13a1	T	C	8: 70,257,963 (GRCm39)	V906A	probably benign	Het
Atp2a2	A	T	5: 122,599,747 (GRCm39)	I548N	probably benign	Het
C2cd5	A	T	6: 142,980,837 (GRCm39)	S643T	probably benign	Het
Calcoco1	T	C	15: 102,624,285 (GRCm39)	D210G	probably damaging	Het
Cep128	A	G	12: 91,263,032 (GRCm39)	I289T	probably benign	Het
Ces1c	C	T	8: 93,833,243 (GRCm39)	M407I	probably benign	Het
Cntln	T	G	4: 85,033,689 (GRCm39)		probably null	Het
Cypt12	T	A	3: 18,002,892 (GRCm39)	H88Q	possibly damaging	Het
Ddc	T	A	11: 11,830,645 (GRCm39)		probably benign	Het
Dnajb12	T	C	10: 59,728,685 (GRCm39)		probably null	Het
Gata2	A	G	6: 88,182,462 (GRCm39)	T477A	possibly damaging	Het
Gckr	A	G	5: 31,484,419 (GRCm39)	D619G	probably benign	Het
Gm5699	A	T	1: 31,037,432 (GRCm39)		noncoding transcript	Het
Gm8257	T	A	14: 44,892,683 (GRCm39)	S106C	probably damaging	Het
Gpr15	A	C	16: 58,538,567 (GRCm39)	L174R	probably damaging	Het
Hnrnph3	T	A	10: 62,855,264 (GRCm39)	H7L	possibly damaging	Het
Ide	A	T	19: 37,275,455 (GRCm39)	I518N	unknown	Het
Igdcc4	G	A	9: 65,040,360 (GRCm39)	G957D	probably damaging	Het
Igsf10	G	A	3: 59,226,027 (GRCm39)	P2549S	probably benign	Het
Kcnj9	A	G	1: 172,153,531 (GRCm39)	S198P	probably damaging	Het
Lclat1	T	C	17: 73,476,528 (GRCm39)	I45T	probably benign	Het
Met	T	C	6: 17,553,346 (GRCm39)	L1044S	probably damaging	Het
Msh4	T	C	3: 153,563,160 (GRCm39)	T739A	probably benign	Het
Ncam1	T	C	9: 49,419,988 (GRCm39)	E776G	probably benign	Het
Ndufv3	G	A	17: 31,746,643 (GRCm39)	V178M	probably damaging	Het
Nlgn1	T	C	3: 25,488,409 (GRCm39)	Y613C	probably damaging	Het
Nmbr	T	C	10: 14,636,431 (GRCm39)		probably benign	Het
Orc1	T	A	4: 108,452,676 (GRCm39)	W184R	probably benign	Het
Pde6b	T	C	5: 108,579,407 (GRCm39)	S850P	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,085,505 (GRCm39)		probably benign	Het
Pomt2	T	A	12: 87,171,636 (GRCm39)	H378L	probably damaging	Het
Sh3gl3	C	T	7: 81,934,226 (GRCm39)		probably benign	Het
Thsd7a	A	T	6: 12,408,984 (GRCm39)	N679K	probably damaging	Het
Tns2	T	C	15: 102,019,850 (GRCm39)	M572T	probably benign	Het
Twf2	C	T	9: 106,089,955 (GRCm39)	Q103*	probably null	Het
Uncx	T	C	5: 139,532,523 (GRCm39)	I196T	possibly damaging	Het
Urgcp	A	G	11: 5,667,400 (GRCm39)	S313P	probably damaging	Het
Vmn1r222	A	T	13: 23,416,311 (GRCm39)	C301S	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,031 (GRCm39)	Q325L	possibly damaging	Het
Wdr19	T	A	5: 65,380,924 (GRCm39)	H344Q	probably damaging	Het
Wiz	A	T	17: 32,578,443 (GRCm39)	D356E	probably damaging	Het
Zc3h10	T	C	10: 128,380,751 (GRCm39)	E202G	probably benign	Het

Other mutations in Vps4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Vps4a	APN	8	107,769,258 (GRCm39)	missense	probably benign	0.00
IGL01123:Vps4a	APN	8	107,765,851 (GRCm39)	splice site	probably benign
IGL01538:Vps4a	APN	8	107,763,556 (GRCm39)	missense	probably benign	0.03
IGL02524:Vps4a	APN	8	107,763,383 (GRCm39)	splice site	probably benign
IGL02601:Vps4a	APN	8	107,769,693 (GRCm39)	missense	probably damaging	1.00
IGL03216:Vps4a	APN	8	107,763,335 (GRCm39)	missense	probably damaging	0.99
R0047:Vps4a	UTSW	8	107,763,333 (GRCm39)	missense	probably damaging	0.97
R0047:Vps4a	UTSW	8	107,763,333 (GRCm39)	missense	probably damaging	0.97
R0330:Vps4a	UTSW	8	107,769,698 (GRCm39)	missense	probably benign	0.01
R1384:Vps4a	UTSW	8	107,763,276 (GRCm39)	missense	possibly damaging	0.94
R1933:Vps4a	UTSW	8	107,771,190 (GRCm39)	missense	probably benign	0.21
R7729:Vps4a	UTSW	8	107,767,529 (GRCm39)	missense	probably damaging	0.98
R8964:Vps4a	UTSW	8	107,771,686 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16