Mutagenetix > Incidental Mutation

Incidental Mutation 'R5044:Vps4b'

453047

Institutional Source

Beutler Lab

Gene Symbol

Vps4b

Ensembl Gene

ENSMUSG00000009907

Gene Name

vacuolar protein sorting 4B

Synonyms

Skd1, 8030489C12Rik

MMRRC Submission

042634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R5044 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106698518-106724455 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 106724148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094646] [ENSMUST00000112736]

AlphaFold

P46467

Predicted Effect

probably null
Transcript: ENSMUST00000094646

SMART Domains

Protein: ENSMUSP00000092230
Gene: ENSMUSG00000009907

Domain	Start	End	E-Value	Type
MIT	4	82	7.95e-26	SMART
AAA	166	302	1.55e-22	SMART
Blast:AAA	322	366	3e-10	BLAST
Pfam:Vps4_C	381	441	1.4e-30	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112736

SMART Domains

Protein: ENSMUSP00000108356
Gene: ENSMUSG00000009907

Domain	Start	End	E-Value	Type
MIT	4	82	7.95e-26	SMART
AAA	166	302	1.55e-22	SMART
Blast:AAA	322	366	3e-10	BLAST
Pfam:Vps4_C	380	441	7.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126057

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (73/76)

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. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a 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 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,323 (GRCm39)	F3387I	possibly damaging	Het
Acacb	T	A	5: 114,304,088 (GRCm39)	S170R	probably benign	Het
Adamtsl4	A	G	3: 95,588,960 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,637,050 (GRCm39)	C3464R	probably benign	Het
Apbb1	A	T	7: 105,214,889 (GRCm39)		probably benign	Het
Cad	A	G	5: 31,212,365 (GRCm39)	T23A	probably benign	Het
Cdca7	A	G	2: 72,313,759 (GRCm39)	R183G	probably benign	Het
Cdpf1	T	C	15: 85,693,513 (GRCm39)	T5A	probably benign	Het
Cep85	T	C	4: 133,883,490 (GRCm39)	D133G	probably damaging	Het
Chrna9	T	C	5: 66,128,359 (GRCm39)	L189P	probably damaging	Het
Clca3a1	A	C	3: 144,713,689 (GRCm39)		probably null	Het
Cntn1	G	T	15: 92,140,876 (GRCm39)	V201F	probably damaging	Het
Col4a3	A	G	1: 82,644,267 (GRCm39)	E352G	unknown	Het
Ddhd2	T	C	8: 26,242,164 (GRCm39)	Y237C	probably damaging	Het
Dnah6	A	C	6: 73,014,605 (GRCm39)	F3609V	probably benign	Het
Epha3	T	C	16: 63,422,650 (GRCm39)	K580R	possibly damaging	Het
Fam135b	T	C	15: 71,334,560 (GRCm39)	N878S	probably benign	Het
Fbn1	T	G	2: 125,171,022 (GRCm39)	T1938P	probably damaging	Het
Foxg1	T	C	12: 49,431,969 (GRCm39)	V234A	probably damaging	Het
Garin5b	T	C	7: 4,761,660 (GRCm39)	N351D	probably benign	Het
Glt1d1	A	T	5: 127,721,478 (GRCm39)	N55I	probably benign	Het
Gm17641	C	A	3: 68,776,807 (GRCm39)		probably benign	Het
Gm7665	A	G	18: 16,407,788 (GRCm39)		noncoding transcript	Het
Hgf	A	C	5: 16,819,892 (GRCm39)	N541T	probably benign	Het
Hipk2	G	A	6: 38,795,814 (GRCm39)	P152S	probably benign	Het
Jarid2	C	T	13: 45,060,041 (GRCm39)	L720F	probably damaging	Het
Kifc5b	A	G	17: 27,143,761 (GRCm39)	E511G	probably damaging	Het
Ldlr	G	A	9: 21,646,538 (GRCm39)	A235T	probably benign	Het
Lmln	A	G	16: 32,894,550 (GRCm39)	D231G	possibly damaging	Het
Lrp1	A	G	10: 127,403,364 (GRCm39)	C2070R	probably damaging	Het
Mbl1	A	G	14: 40,880,681 (GRCm39)	T190A	possibly damaging	Het
Mpdz	A	T	4: 81,299,934 (GRCm39)	S355T	probably benign	Het
Muc19	C	T	15: 91,772,332 (GRCm39)		noncoding transcript	Het
Mycbp2	A	C	14: 103,376,671 (GRCm39)		probably null	Het
Naa20	T	C	2: 145,757,762 (GRCm39)	S164P	probably damaging	Het
Nme4	A	T	17: 26,312,807 (GRCm39)		probably benign	Het
Npas2	A	T	1: 39,386,587 (GRCm39)	R619*	probably null	Het
Nudt19	G	A	7: 35,255,171 (GRCm39)	T20I	possibly damaging	Het
Or4c119	T	A	2: 88,987,283 (GRCm39)	K79*	probably null	Het
Or5b97	A	G	19: 12,878,365 (GRCm39)	Y260H	probably damaging	Het
Pitpnc1	A	G	11: 107,187,054 (GRCm39)	Y90H	possibly damaging	Het
Rcor2	A	G	19: 7,247,150 (GRCm39)	T6A	probably benign	Het
Rif1	T	A	2: 51,999,940 (GRCm39)	S1131R	probably damaging	Het
Rtkn	T	A	6: 83,127,972 (GRCm39)	D377E	probably benign	Het
Rtn4rl2	T	A	2: 84,702,846 (GRCm39)	N242I	probably damaging	Het
Sbno2	G	A	10: 79,898,022 (GRCm39)	L719F	probably benign	Het
Scn11a	G	T	9: 119,648,897 (GRCm39)	D55E	probably damaging	Het
Setd1b	T	A	5: 123,289,929 (GRCm39)	I632N	unknown	Het
Spaca6	A	G	17: 18,051,458 (GRCm39)	T45A	probably benign	Het
Srpk2	A	T	5: 23,729,390 (GRCm39)	D416E	possibly damaging	Het
Sspo	A	T	6: 48,443,889 (GRCm39)		probably null	Het
Sycp1	A	T	3: 102,752,370 (GRCm39)	I804N	probably benign	Het
Tdp2	G	A	13: 25,015,809 (GRCm39)	R32Q	probably benign	Het
Tgfbr3	A	G	5: 107,284,795 (GRCm39)	V618A	possibly damaging	Het
Tmc3	C	T	7: 83,258,326 (GRCm39)	P439S	probably benign	Het
Tnxb	A	T	17: 34,936,457 (GRCm39)	D2740V	probably damaging	Het
Tspyl4	A	G	10: 34,173,933 (GRCm39)	T142A	probably benign	Het
Ttn	T	C	2: 76,710,785 (GRCm39)		probably benign	Het
Tubgcp4	T	C	2: 121,004,061 (GRCm39)	L34P	probably damaging	Het
Tubgcp6	G	T	15: 88,983,748 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,078,962 (GRCm39)	V1690E	probably benign	Het
Wtap	A	G	17: 13,186,525 (GRCm39)	S341P	possibly damaging	Het
Wwc1	T	C	11: 35,774,172 (GRCm39)	T363A	probably benign	Het
Zbtb8a	G	A	4: 129,254,293 (GRCm39)	T67M	probably damaging	Het
Zfp865	T	C	7: 5,037,668 (GRCm39)		probably benign	Het

Other mutations in Vps4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1484:Vps4b	UTSW	1	106,707,712 (GRCm39)	missense	probably damaging	1.00
R1843:Vps4b	UTSW	1	106,706,712 (GRCm39)	missense	possibly damaging	0.94
R5375:Vps4b	UTSW	1	106,719,422 (GRCm39)	missense	probably benign	0.36
R5931:Vps4b	UTSW	1	106,705,065 (GRCm39)	missense	probably benign
R7311:Vps4b	UTSW	1	106,719,434 (GRCm39)	missense	probably damaging	0.99
R7514:Vps4b	UTSW	1	106,708,232 (GRCm39)	critical splice donor site	probably null
R8852:Vps4b	UTSW	1	106,710,414 (GRCm39)	missense	possibly damaging	0.63
R8860:Vps4b	UTSW	1	106,710,414 (GRCm39)	missense	possibly damaging	0.63
R9631:Vps4b	UTSW	1	106,707,835 (GRCm39)	missense	possibly damaging	0.92
Z1177:Vps4b	UTSW	1	106,719,430 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GCCCAAACTCCGCTGTTTTG -3'
(R):5'- AGTTCCTGCTGGATTTACGGC -3'

Sequencing Primer
(F):5'- CACAGACCTTGAGGCTGAG -3'
(R):5'- CTGGATTTACGGCTCCGGAG -3'

Posted On

2017-01-25