Mutagenetix > Incidental Mutation

Incidental Mutation 'R8456:Vps35'

655028

Institutional Source

Beutler Lab

Gene Symbol

Vps35

Ensembl Gene

ENSMUSG00000031696

Gene Name

VPS35 retromer complex component

Synonyms

Mem3

MMRRC Submission

067833-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8456 (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 85987934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 739 (T739I)

Ref Sequence

ENSEMBL: ENSMUSP00000034131 (fasta)

Gene Model

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

AlphaFold

Q9EQH3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034131
AA Change: T739I

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: T739I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,360 (GRCm39)	E1098G	probably benign	Het
Akap1	T	A	11: 88,725,557 (GRCm39)		probably null	Het
Arhgap26	T	C	18: 39,244,901 (GRCm39)	V182A	possibly damaging	Het
Arhgef19	A	G	4: 140,977,926 (GRCm39)	K545R	probably benign	Het
Asph	C	T	4: 9,537,722 (GRCm39)	R352Q	probably benign	Het
B3glct	T	A	5: 149,650,254 (GRCm39)	I119N	probably damaging	Het
Bltp3b	A	G	10: 89,647,954 (GRCm39)	T1339A	probably benign	Het
Camsap3	C	T	8: 3,650,679 (GRCm39)	R236*	probably null	Het
Ccser2	A	T	14: 36,612,331 (GRCm39)	M792K	probably benign	Het
Ceacam5	C	T	7: 17,479,624 (GRCm39)	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,047,764 (GRCm39)	S19P	probably damaging	Het
Dtwd1	A	G	2: 126,000,451 (GRCm39)	E129G	probably damaging	Het
Ebf3	T	A	7: 136,800,916 (GRCm39)	M490L	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,110,789 (GRCm39)	L1008S	probably damaging	Het
Ereg	C	T	5: 91,237,993 (GRCm39)	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,821,077 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,385 (GRCm39)	T362A	unknown	Het
Gm14326	A	T	2: 177,590,312 (GRCm39)	D16E	probably benign	Het
H1f8	A	T	6: 115,925,745 (GRCm39)	M181L	probably benign	Het
H3c1	A	T	13: 23,946,083 (GRCm39)	F85Y	probably damaging	Het
Herc6	A	T	6: 57,575,548 (GRCm39)	T190S	probably benign	Het
Lama1	T	G	17: 68,044,491 (GRCm39)	I130S		Het
Letm2	T	C	8: 26,071,729 (GRCm39)	D391G	probably damaging	Het
Map3k9	T	C	12: 81,780,892 (GRCm39)	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191 (GRCm39)	C168S	possibly damaging	Het
Naa16	A	T	14: 79,596,915 (GRCm39)	N356K	probably benign	Het
Nup214	A	G	2: 31,929,372 (GRCm39)	N1873S	probably benign	Het
Or2y1f	C	T	11: 49,184,385 (GRCm39)	P79L	probably damaging	Het
Or8b41	T	A	9: 38,054,981 (GRCm39)	C178*	probably null	Het
Pom121	A	G	5: 135,410,032 (GRCm39)	F1042L	unknown	Het
Pramel51	T	A	12: 88,143,986 (GRCm39)	T284S	probably benign	Het
Pxdn	T	C	12: 30,061,889 (GRCm39)	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,063,170 (GRCm39)	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,782,045 (GRCm39)	S7P	probably damaging	Het
Rev1	G	A	1: 38,098,324 (GRCm39)	R740*	probably null	Het
Rnf157	C	T	11: 116,240,246 (GRCm39)	V443M	probably benign	Het
Scn3a	T	A	2: 65,291,017 (GRCm39)	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	C	CAGCCACGGGGCCTAGCTA	7: 126,066,772 (GRCm39)		probably null	Het
Siah2	T	C	3: 58,583,503 (GRCm39)	N261S	probably benign	Het
Sumf2	T	G	5: 129,889,003 (GRCm39)	W264G	possibly damaging	Het
Tal1	G	T	4: 114,920,625 (GRCm39)	A100S	probably benign	Het
Tmprss9	A	G	10: 80,730,251 (GRCm39)	D717G	possibly damaging	Het
Tox2	G	T	2: 163,046,550 (GRCm39)	R9L	unknown	Het
Traj46	A	G	14: 54,409,795 (GRCm39)	E1G		Het
Unc80	A	G	1: 66,680,788 (GRCm39)	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,112,290 (GRCm39)	F308I	probably damaging	Het
Vgf	A	T	5: 137,061,265 (GRCm39)	I476F	probably damaging	Het
Wdr95	G	T	5: 149,502,572 (GRCm39)	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,289,381 (GRCm39)	S94G	unknown	Het
Zdhhc13	T	A	7: 48,452,747 (GRCm39)	I153N	probably damaging	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
PIT4151001:Vps35	UTSW	8	86,010,677 (GRCm39)	missense	possibly damaging	0.95
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
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'- AGGATGAGACCTTCATAGATTGG -3'
(R):5'- GGGCATTGTCCATTTGTAGC -3'

Sequencing Primer
(F):5'- ATAGATTGGCCCCTCAGACTCTG -3'
(R):5'- GGCACTGACTGCTTTTCCAGAAG -3'

Posted On

2020-10-20