Mutagenetix > Incidental Mutation

Incidental Mutation 'R3708:Vps36'

259443

Institutional Source

Beutler Lab

Gene Symbol

Vps36

Ensembl Gene

ENSMUSG00000031479

Gene Name

vacuolar protein sorting 36

Synonyms

2210415M20Rik, 1700010A24Rik, 2810408E15Rik, Eap45

MMRRC Submission

040701-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R3708 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

22682825-22710859 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22682899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 5 (V5L)

Ref Sequence

ENSEMBL: ENSMUSP00000033866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033866]

AlphaFold

Q91XD6

PDB Structure

The complex structure between the mouse EAP45-GLUE domain and ubiquitin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000033866
AA Change: V5L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033866
Gene: ENSMUSG00000031479
AA Change: V5L

Domain	Start	End	E-Value	Type
Pfam:Vps36_ESCRT-II	2	88	1e-19	PFAM
Pfam:EAP30	154	369	1.4e-46	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.1%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcc5	G	T	16: 20,190,930 (GRCm39)	Q807K	probably benign	Het
Amfr	T	C	8: 94,709,948 (GRCm39)	H419R	probably benign	Het
Atp8b2	A	T	3: 89,852,459 (GRCm39)	F866I	probably damaging	Het
Atxn7l3	G	A	11: 102,182,705 (GRCm39)		probably benign	Het
Bcs1l	A	G	1: 74,629,264 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,890 (GRCm39)	R608C	probably damaging	Het
Celf2	C	A	2: 6,629,489 (GRCm39)	K137N	probably damaging	Het
Cmya5	A	T	13: 93,231,874 (GRCm39)	Y1071*	probably null	Het
Cyp2d10	A	G	15: 82,287,217 (GRCm39)	F469L	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,733 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,958,631 (GRCm39)	I2158L	probably damaging	Het
Dtnb	T	A	12: 3,639,156 (GRCm39)		probably null	Het
Dync1h1	T	C	12: 110,609,563 (GRCm39)	F2782L	probably damaging	Het
Ednrb	A	G	14: 104,054,516 (GRCm39)	Y439H	probably damaging	Het
Ferd3l	T	C	12: 33,978,748 (GRCm39)	V87A	probably benign	Het
Gphn	T	A	12: 78,579,467 (GRCm39)	S320T	probably benign	Het
Gpr39	C	T	1: 125,800,349 (GRCm39)	H367Y	probably damaging	Het
Hspa4l	A	T	3: 40,736,125 (GRCm39)	N582I	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,836 (GRCm39)	W55R	probably damaging	Het
Lelp1	A	C	3: 92,042,714 (GRCm39)	C112G	unknown	Het
Lrba	A	G	3: 86,192,331 (GRCm39)	M82V	possibly damaging	Het
Macrod2	C	A	2: 141,652,549 (GRCm39)	T204K	probably damaging	Het
Map2	A	T	1: 66,455,714 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,235,513 (GRCm39)	K647R	probably damaging	Het
Nr4a3	A	T	4: 48,056,699 (GRCm39)	Y417F	probably damaging	Het
Nup50l	G	A	6: 96,142,933 (GRCm39)	T37I	possibly damaging	Het
Obox7	C	A	7: 14,398,122 (GRCm39)	S54*	probably null	Het
Or2n1c	A	G	17: 38,519,174 (GRCm39)	I13V	probably benign	Het
Or52r1c	T	G	7: 102,735,501 (GRCm39)	Y254D	probably damaging	Het
Or8b101	T	C	9: 38,020,740 (GRCm39)	S253P	probably damaging	Het
Or9g20	T	A	2: 85,630,342 (GRCm39)	I91L	probably benign	Het
Pappa2	A	T	1: 158,662,488 (GRCm39)	Y1162*	probably null	Het
Pcdhb19	T	A	18: 37,630,442 (GRCm39)	I79K	probably benign	Het
Pi4k2a	C	T	19: 42,079,370 (GRCm39)	Q144*	probably null	Het
Pigc	T	A	1: 161,798,663 (GRCm39)	M215K	probably benign	Het
Pnma8a	T	A	7: 16,694,150 (GRCm39)	S2T	probably damaging	Het
Ppfia4	T	C	1: 134,237,398 (GRCm39)	E967G	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims3	A	G	4: 120,740,352 (GRCm39)	T100A	probably damaging	Het
Serpinb9	A	T	13: 33,192,002 (GRCm39)	N61I	possibly damaging	Het
Sis	A	G	3: 72,850,856 (GRCm39)	M614T	probably benign	Het
Slc6a17	C	T	3: 107,400,401 (GRCm39)	V243I	probably benign	Het
Smad9	A	T	3: 54,693,602 (GRCm39)	Y177F	probably benign	Het
Vmn2r69	T	C	7: 85,061,029 (GRCm39)	D185G	probably damaging	Het
Vwa8	T	A	14: 79,300,136 (GRCm39)		probably benign	Het

Other mutations in Vps36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02577:Vps36	APN	8	22,701,632 (GRCm39)	nonsense	probably null
IGL03035:Vps36	APN	8	22,708,431 (GRCm39)	missense	probably benign	0.10
R0270:Vps36	UTSW	8	22,700,472 (GRCm39)	missense	possibly damaging	0.85
R0532:Vps36	UTSW	8	22,708,261 (GRCm39)	missense	probably benign	0.03
R0966:Vps36	UTSW	8	22,696,833 (GRCm39)	nonsense	probably null
R1452:Vps36	UTSW	8	22,708,226 (GRCm39)	critical splice acceptor site	probably null
R1880:Vps36	UTSW	8	22,703,578 (GRCm39)	critical splice donor site	probably null
R2127:Vps36	UTSW	8	22,708,305 (GRCm39)	critical splice donor site	probably null
R2128:Vps36	UTSW	8	22,708,305 (GRCm39)	critical splice donor site	probably null
R4583:Vps36	UTSW	8	22,708,436 (GRCm39)	missense	probably benign	0.22
R4917:Vps36	UTSW	8	22,708,280 (GRCm39)	missense	possibly damaging	0.93
R6354:Vps36	UTSW	8	22,695,771 (GRCm39)	missense	probably damaging	1.00
R6597:Vps36	UTSW	8	22,692,320 (GRCm39)	missense	probably benign
R7207:Vps36	UTSW	8	22,701,623 (GRCm39)	missense	probably benign	0.28
R8251:Vps36	UTSW	8	22,682,932 (GRCm39)	missense	probably benign	0.01
Z1177:Vps36	UTSW	8	22,682,846 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAGTTTGGCAGTGACAGGG -3'
(R):5'- AATCATCACCGGTCCAGCAG -3'

Sequencing Primer
(F):5'- CAGTGACAGGGGAGCAAATGTG -3'
(R):5'- CCACAAGGCGGAACTGTAC -3'

Posted On

2015-01-23