Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00718:Vps4a'

14814

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 #

IGL00718

Quality Score

Status

Chromosome

Chromosomal Location

107757901-107772392 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107769258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 261 (N261S)

Ref Sequence

ENSEMBL: ENSMUSP00000034388 (fasta)

Gene Model

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

AlphaFold

Q8VEJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000034388
AA Change: N261S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034388
Gene: ENSMUSG00000031913
AA Change: N261S

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C9orf72	A	T	4: 35,213,015 (GRCm39)	L220H	probably damaging	Het
Cdk12	T	C	11: 98,140,502 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,012 (GRCm39)	E163G	probably benign	Het
Decr1	C	A	4: 15,933,056 (GRCm39)	D37Y	probably benign	Het
Eml4	A	G	17: 83,755,613 (GRCm39)	I282V	probably benign	Het
Fanci	A	G	7: 79,093,922 (GRCm39)	K1064R	possibly damaging	Het
Insrr	G	T	3: 87,720,981 (GRCm39)		probably null	Het
Kcnt1	C	T	2: 25,782,419 (GRCm39)	T186M	probably damaging	Het
Mettl14	T	C	3: 123,164,988 (GRCm39)	I334M	probably damaging	Het
Mical3	G	T	6: 121,017,410 (GRCm39)	H135Q	probably damaging	Het
Ms4a4d	A	T	19: 11,535,335 (GRCm39)	N211I	probably damaging	Het
Nsd3	T	C	8: 26,196,562 (GRCm39)	V230A	probably damaging	Het
Pcdhb13	T	C	18: 37,577,874 (GRCm39)	Y751H	possibly damaging	Het
Rad54l2	T	C	9: 106,590,654 (GRCm39)	T491A	probably damaging	Het
Scara3	G	A	14: 66,168,876 (GRCm39)	T247I	possibly damaging	Het
Snx19	T	A	9: 30,343,622 (GRCm39)	L594Q	probably damaging	Het
Unc79	T	C	12: 103,135,906 (GRCm39)	V2251A	possibly damaging	Het
Usp24	T	C	4: 106,266,901 (GRCm39)	S1895P	probably benign	Het

Other mutations in Vps4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02616:Vps4a	APN	8	107,768,909 (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

2012-12-06