Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4151001:Vps35'

557034

Institutional Source

Beutler Lab

Gene Symbol

Vps35

Ensembl Gene

ENSMUSG00000031696

Gene Name

VPS35 retromer complex component

Synonyms

Mem3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4151001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85987014-86026146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86010677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 222 (T222I)

Ref Sequence

ENSEMBL: ENSMUSP00000034131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034131]

AlphaFold

Q9EQH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034131
AA Change: T222I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: T222I

Domain	Start	End	E-Value	Type
Pfam:Vps35	15	753	6.8e-303	PFAM

Coding Region Coverage

1x: 92.7%
3x: 90.4%
10x: 84.6%
20x: 72.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,930,670 (GRCm39)	L1389P	probably damaging	Het
Acot10	C	T	15: 20,666,684 (GRCm39)	G19D	probably damaging	Het
Adam20	G	A	8: 41,248,081 (GRCm39)	V64I	possibly damaging	Het
Ak6	T	A	13: 100,791,603 (GRCm39)	D15E	probably damaging	Het
Atp1a2	A	G	1: 172,118,288 (GRCm39)	Y129H	probably damaging	Het
Caskin1	C	T	17: 24,721,193 (GRCm39)	T511I	probably damaging	Het
Casp9	C	T	4: 141,521,259 (GRCm39)	R32*	probably null	Het
Ccdc40	A	G	11: 119,133,277 (GRCm39)	E445G	probably damaging	Het
Cct8	T	C	16: 87,284,545 (GRCm39)	E273G	probably damaging	Het
Chd5	G	A	4: 152,462,986 (GRCm39)	V1380I	probably damaging	Het
Coro2b	C	T	9: 62,336,286 (GRCm39)	G272D	probably damaging	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dgki	A	T	6: 37,040,916 (GRCm39)	H298Q	probably benign	Het
Dnmt3b	T	G	2: 153,526,399 (GRCm39)		probably null	Het
Dzip1	A	G	14: 119,160,200 (GRCm39)	F3L	probably damaging	Het
Egf	A	G	3: 129,496,198 (GRCm39)	S807P	probably benign	Het
Emc10	C	T	7: 44,142,627 (GRCm39)	R105H		Het
Enthd1	T	C	15: 80,336,937 (GRCm39)	E499G	probably damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Fer1l5	T	A	1: 36,450,728 (GRCm39)	M1242K	probably benign	Het
Gm3415	A	G	5: 146,493,079 (GRCm39)	R36G	probably benign	Het
Gm5797	C	A	14: 7,330,318 (GRCm38)	M114I	possibly damaging	Het
Gmppa	A	T	1: 75,418,468 (GRCm39)	R284*	probably null	Het
Homer1	G	C	13: 93,485,724 (GRCm39)	K118N	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kcnc4	G	A	3: 107,366,019 (GRCm39)	A63V	probably damaging	Het
Kif11	T	A	19: 37,373,045 (GRCm39)	I88N	probably damaging	Het
Krba1	T	C	6: 48,379,831 (GRCm39)	F9S	probably damaging	Het
Nckap1	A	G	2: 80,350,714 (GRCm39)		probably null	Het
Nox4	A	T	7: 86,954,097 (GRCm39)	Y134F	probably benign	Het
Or4a79	T	A	2: 89,552,237 (GRCm39)	T73S	probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or52e15	A	G	7: 104,645,424 (GRCm39)	L229P	probably damaging	Het
Or5m13b	T	A	2: 85,754,386 (GRCm39)	M258K	probably damaging	Het
Or5m8	T	C	2: 85,822,538 (GRCm39)	C126R	probably damaging	Het
Or8k22	G	T	2: 86,163,173 (GRCm39)	H176N	possibly damaging	Het
Pcdh17	G	T	14: 84,684,798 (GRCm39)	V422L	probably benign	Het
Pcx	T	A	19: 4,653,157 (GRCm39)	V275E	probably damaging	Het
Pde6h	A	T	6: 136,938,185 (GRCm39)	M53L	possibly damaging	Het
Phactr3	A	T	2: 177,975,861 (GRCm39)	E535D	probably damaging	Het
Pkn3	C	A	2: 29,980,539 (GRCm39)	T810N	probably damaging	Het
Pnpla5	T	C	15: 84,002,827 (GRCm39)	E252G	probably damaging	Het
Pramel21	T	A	4: 143,342,722 (GRCm39)	C276*	probably null	Het
Psg17	A	G	7: 18,548,530 (GRCm39)	S414P	probably benign	Het
Pzp	T	A	6: 128,502,259 (GRCm39)	Q30L	probably benign	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Ret	T	C	6: 118,141,702 (GRCm39)	D975G	probably benign	Het
Sarnp	A	G	10: 128,713,235 (GRCm39)	I209V	probably benign	Het
Sorl1	A	T	9: 41,879,918 (GRCm39)	V2210D	probably damaging	Het
Stard9	C	T	2: 120,533,237 (GRCm39)	Q3165*	probably null	Het
Tmem64	A	T	4: 15,283,159 (GRCm39)	I319F	probably damaging	Het
Vmn1r176	A	T	7: 23,534,808 (GRCm39)	V115D	probably damaging	Het
Vmn1r2	A	G	4: 3,172,623 (GRCm39)	T181A	probably benign	Het
Vmn2r2	T	C	3: 64,024,334 (GRCm39)	E749G	possibly damaging	Het
Zfp532	A	G	18: 65,757,485 (GRCm39)	T473A	probably damaging	Het
Zfyve16	A	G	13: 92,657,712 (GRCm39)	V733A	probably damaging	Het
Zranb1	T	A	7: 132,551,723 (GRCm39)	S125T	probably benign	Het

Other mutations in Vps35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Vps35	APN	8	86,000,092 (GRCm39)	splice site	probably benign
IGL02604:Vps35	APN	8	86,013,018 (GRCm39)	missense	probably damaging	1.00
IGL03278:Vps35	APN	8	86,021,590 (GRCm39)	unclassified	probably benign
IGL03326:Vps35	APN	8	86,001,526 (GRCm39)	nonsense	probably null
R0118:Vps35	UTSW	8	86,021,582 (GRCm39)	missense	probably benign	0.04
R0226:Vps35	UTSW	8	86,000,204 (GRCm39)	missense	probably damaging	0.97
R1079:Vps35	UTSW	8	86,005,683 (GRCm39)	missense	probably damaging	1.00
R1477:Vps35	UTSW	8	86,014,429 (GRCm39)	missense	probably damaging	1.00
R1969:Vps35	UTSW	8	86,005,623 (GRCm39)	missense	possibly damaging	0.90
R2082:Vps35	UTSW	8	85,990,094 (GRCm39)	missense	possibly damaging	0.95
R2156:Vps35	UTSW	8	86,013,129 (GRCm39)	missense	probably benign	0.06
R2341:Vps35	UTSW	8	86,001,443 (GRCm39)	splice site	probably benign
R3752:Vps35	UTSW	8	86,001,460 (GRCm39)	missense	probably benign	0.34
R4589:Vps35	UTSW	8	86,014,331 (GRCm39)	missense	probably damaging	1.00
R4745:Vps35	UTSW	8	85,987,891 (GRCm39)	missense	probably benign
R4790:Vps35	UTSW	8	86,005,486 (GRCm39)	splice site	probably null
R4827:Vps35	UTSW	8	86,000,186 (GRCm39)	missense	possibly damaging	0.94
R4953:Vps35	UTSW	8	86,008,475 (GRCm39)	missense	probably damaging	1.00
R6277:Vps35	UTSW	8	85,987,857 (GRCm39)	missense	possibly damaging	0.80
R6291:Vps35	UTSW	8	86,026,086 (GRCm39)	start codon destroyed	probably benign	0.07
R6434:Vps35	UTSW	8	86,000,124 (GRCm39)	missense	possibly damaging	0.53
R7175:Vps35	UTSW	8	85,990,189 (GRCm39)	splice site	probably null
R7206:Vps35	UTSW	8	86,014,350 (GRCm39)	missense	probably damaging	1.00
R7309:Vps35	UTSW	8	86,001,596 (GRCm39)	missense	probably benign	0.05
R7479:Vps35	UTSW	8	85,997,434 (GRCm39)	missense	probably benign	0.17
R7547:Vps35	UTSW	8	85,989,999 (GRCm39)	missense	probably damaging	1.00
R7761:Vps35	UTSW	8	86,010,707 (GRCm39)	missense	possibly damaging	0.91
R7812:Vps35	UTSW	8	86,010,818 (GRCm39)	missense	probably benign	0.01
R8312:Vps35	UTSW	8	86,001,498 (GRCm39)	missense	possibly damaging	0.65
R8356:Vps35	UTSW	8	85,987,934 (GRCm39)	missense	possibly damaging	0.63
R8403:Vps35	UTSW	8	86,001,487 (GRCm39)	missense	probably benign
R8456:Vps35	UTSW	8	85,987,934 (GRCm39)	missense	possibly damaging	0.63
R9189:Vps35	UTSW	8	86,007,898 (GRCm39)	missense	possibly damaging	0.67
R9615:Vps35	UTSW	8	86,010,633 (GRCm39)	missense	probably benign	0.00
X0020:Vps35	UTSW	8	85,990,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAATCTACCTTCACTTCAGTG -3'
(R):5'- TTGATCCTGTCACGTGTACTAAG -3'

Sequencing Primer
(F):5'- CCTAGTCTTTCAAAACTGCTGTGGG -3'
(R):5'- CCTGTCACGTGTACTAAGATTTTTC -3'

Posted On

2019-06-07