Mutagenetix > Incidental Mutation

Incidental Mutation 'R5295:Vps51'

405384

Institutional Source

Beutler Lab

Gene Symbol

Vps51

Ensembl Gene

ENSMUSG00000024797

Gene Name

VPS51 GARP complex subunit

Synonyms

MMRRC Submission

042878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5295 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6067842-6080324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 6071033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 283 (E283D)

Ref Sequence

ENSEMBL: ENSMUSP00000123994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025711] [ENSMUST00000025713] [ENSMUST00000113543] [ENSMUST00000159084] [ENSMUST00000159832] [ENSMUST00000160028] [ENSMUST00000160233] [ENSMUST00000160590] [ENSMUST00000161718] [ENSMUST00000162810] [ENSMUST00000161528] [ENSMUST00000162575] [ENSMUST00000161090]

AlphaFold

Q3UVL4

Predicted Effect

probably benign
Transcript: ENSMUST00000025711
AA Change: E283D

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

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: E283D

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2.6e-10	PFAM
Pfam:DUF2450	62	250	2.3e-14	PFAM
Pfam:Vps51	63	149	1.1e-26	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Zw10	83	291	2.2e-8	PFAM
Pfam:Sec5	101	275	6.5e-24	PFAM
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025713

SMART Domains

Protein: ENSMUSP00000025713
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	418	1.6e-141	PFAM
Pfam:DUF1295	250	409	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113543

SMART Domains

Protein: ENSMUSP00000109171
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	373	9.9e-112	PFAM
Pfam:DUF1295	249	396	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159084

SMART Domains

Protein: ENSMUSP00000124868
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	300	6.4e-75	PFAM
Pfam:ERG4_ERG24	292	391	2.2e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159211

Predicted Effect

probably benign
Transcript: ENSMUST00000159475

Predicted Effect

probably benign
Transcript: ENSMUST00000159832
AA Change: E283D

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

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: E283D

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:COG2	56	191	2e-10	PFAM
Pfam:DUF2450	62	250	1.9e-14	PFAM
Pfam:Vps51	63	149	8.3e-27	PFAM
Pfam:Dor1	75	246	1.8e-19	PFAM
Pfam:Sec5	101	275	1.6e-19	PFAM
low complexity region	276	292	N/A	INTRINSIC
low complexity region	377	391	N/A	INTRINSIC
low complexity region	523	532	N/A	INTRINSIC
low complexity region	743	758	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159869

Predicted Effect

probably benign
Transcript: ENSMUST00000160028

SMART Domains

Protein: ENSMUSP00000124847
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160233

SMART Domains

Protein: ENSMUSP00000124842
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162549

Predicted Effect

probably benign
Transcript: ENSMUST00000160590

SMART Domains

Protein: ENSMUSP00000123857
Gene: ENSMUSG00000024797

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
Pfam:Vps51	63	121	2.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161718

SMART Domains

Protein: ENSMUSP00000124283
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	1	197	5.7e-86	PFAM
Pfam:DUF1295	46	185	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162810

SMART Domains

Protein: ENSMUSP00000124825
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	9	124	6.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161528

SMART Domains

Protein: ENSMUSP00000123989
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
Pfam:ERG4_ERG24	7	109	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162575

SMART Domains

Protein: ENSMUSP00000125586
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:ERG4_ERG24	51	229	5.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161090

SMART Domains

Protein: ENSMUSP00000125543
Gene: ENSMUSG00000024799

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	C	T	18: 65,305,038	E1095K	probably damaging	Het
Alpl	T	C	4: 137,749,608	T245A	probably benign	Het
Ank2	T	C	3: 127,032,183	H378R	probably damaging	Het
Arhgef1	G	A	7: 24,919,352		probably null	Het
Atp5c1	T	C	2: 10,068,733	R10G	possibly damaging	Het
Cbln3	T	C	14: 55,883,463		probably null	Het
Ccr10	C	T	11: 101,174,285	V140M	possibly damaging	Het
Cep135	T	A	5: 76,593,204	H42Q	possibly damaging	Het
Commd5	C	A	15: 76,900,952	T183K	possibly damaging	Het
Dnajc16	T	C	4: 141,767,928	E493G	possibly damaging	Het
Ears2	T	C	7: 122,048,198	R288G	probably damaging	Het
Elovl4	G	A	9: 83,780,661	P273L	possibly damaging	Het
Fam186b	T	A	15: 99,283,874	I148F	probably damaging	Het
Fryl	T	C	5: 73,112,791	Y79C	probably damaging	Het
Gad1-ps	A	G	10: 99,444,889		noncoding transcript	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm8882	T	G	6: 132,361,877	Q126P	unknown	Het
Ighv1-77	T	A	12: 115,861,908	S104C	probably damaging	Het
Kcnv1	T	C	15: 45,114,591	D17G	unknown	Het
Lmtk3	G	A	7: 45,791,298	D243N	probably damaging	Het
Lrrc7	T	A	3: 158,170,739	K571N	probably damaging	Het
Lsm7	T	C	10: 80,854,620	E32G	probably damaging	Het
Ly6f	A	G	15: 75,271,639	Q65R	probably benign	Het
Perm1	T	C	4: 156,217,518	L173P	probably benign	Het
Plvap	T	C	8: 71,511,670	Q16R	probably benign	Het
Prl7d1	A	T	13: 27,709,247	V227D	probably damaging	Het
Prss54	T	C	8: 95,564,478	T165A	probably damaging	Het
Psrc1	A	G	3: 108,386,359	I195V	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Rnf213	A	T	11: 119,440,816	T2284S	probably benign	Het
Serpina3c	T	C	12: 104,148,378	E333G	probably damaging	Het
Serpinb6c	A	G	13: 33,893,817	F190S	probably damaging	Het
Sfmbt1	G	A	14: 30,774,029	D90N	probably damaging	Het
Tdh	T	C	14: 63,496,109	Y110C	probably damaging	Het
Tdrd9	T	A	12: 112,051,912	L1255*	probably null	Het
Trim41	TTCCTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCCTCC	11: 48,816,257		probably benign	Het
Zbtb2	T	C	10: 4,368,508	K506R	probably damaging	Het
Zmiz1	T	C	14: 25,656,347	L800P	probably damaging	Het
Znhit6	A	G	3: 145,600,493	D251G	probably benign	Het

Other mutations in Vps51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03095:Vps51	APN	19	6070048	missense	probably damaging	1.00
R0238:Vps51	UTSW	19	6071437	nonsense	probably null
R0238:Vps51	UTSW	19	6071437	nonsense	probably null
R0239:Vps51	UTSW	19	6071437	nonsense	probably null
R0239:Vps51	UTSW	19	6071437	nonsense	probably null
R1533:Vps51	UTSW	19	6071467	missense	probably benign	0.04
R1909:Vps51	UTSW	19	6069469	missense	probably benign	0.03
R2022:Vps51	UTSW	19	6071582	missense	probably benign	0.02
R2146:Vps51	UTSW	19	6068134	missense	probably benign	0.25
R2148:Vps51	UTSW	19	6068134	missense	probably benign	0.25
R2149:Vps51	UTSW	19	6068134	missense	probably benign	0.25
R2901:Vps51	UTSW	19	6076438	missense	probably damaging	0.99
R3717:Vps51	UTSW	19	6077168	utr 3 prime	probably benign
R3769:Vps51	UTSW	19	6076348	missense	possibly damaging	0.54
R5192:Vps51	UTSW	19	6070467	missense	possibly damaging	0.88
R5210:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5256:Vps51	UTSW	19	6070488	missense	probably benign	0.00
R5260:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5261:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5274:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5294:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5389:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5391:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5392:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5393:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5421:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5422:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5497:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5498:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5499:Vps51	UTSW	19	6071033	missense	probably benign	0.00
R5671:Vps51	UTSW	19	6068194	missense	probably benign	0.18
R5963:Vps51	UTSW	19	6068290	missense	probably damaging	1.00
R5989:Vps51	UTSW	19	6076372	missense	probably damaging	0.96
R6427:Vps51	UTSW	19	6070917	missense	possibly damaging	0.77
R7247:Vps51	UTSW	19	6077389	utr 3 prime	probably benign
R9344:Vps51	UTSW	19	6076315	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAACCAGTGCAAAGTAGCG -3'
(R):5'- GCCTGGTCATTGTTCTCCAAAC -3'

Sequencing Primer
(F):5'- CCAGCTCCTGCGCAAAG -3'
(R):5'- TCCAAACACATCGAGTGC -3'

Posted On

2016-07-22