Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Vps51'

210225

Institutional Source

Beutler Lab

Gene Symbol

Vps51

Ensembl Gene

ENSMUSG00000024797

Gene Name

VPS51 GARP complex subunit

Synonyms

3110057M17Rik, 1110014N23Rik

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1909 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

6117872-6127217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6119499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 625 (V625A)

Ref Sequence

ENSEMBL: ENSMUSP00000123994 (fasta)

Gene Model

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

AlphaFold

Q3UVL4

Predicted Effect

probably benign
Transcript: ENSMUST00000025711
AA Change: V625A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799
AA Change: V625A

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: V625A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797
AA Change: V625A

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: ENSMUST00000161634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160324

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

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: 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

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: 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

noncoding transcript
Transcript: ENSMUST00000162721

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: 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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,524,577 (GRCm39)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
St8sia4	A	G	1: 95,555,298 (GRCm39)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,961,121 (GRCm39)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	probably benign	Het

Other mutations in Vps51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03095:Vps51	APN	19	6,120,078 (GRCm39)	missense	probably damaging	1.00
R0238:Vps51	UTSW	19	6,121,467 (GRCm39)	nonsense	probably null
R0238:Vps51	UTSW	19	6,121,467 (GRCm39)	nonsense	probably null
R0239:Vps51	UTSW	19	6,121,467 (GRCm39)	nonsense	probably null
R0239:Vps51	UTSW	19	6,121,467 (GRCm39)	nonsense	probably null
R1533:Vps51	UTSW	19	6,121,497 (GRCm39)	missense	probably benign	0.04
R2022:Vps51	UTSW	19	6,121,612 (GRCm39)	missense	probably benign	0.02
R2146:Vps51	UTSW	19	6,118,164 (GRCm39)	missense	probably benign	0.25
R2148:Vps51	UTSW	19	6,118,164 (GRCm39)	missense	probably benign	0.25
R2149:Vps51	UTSW	19	6,118,164 (GRCm39)	missense	probably benign	0.25
R2901:Vps51	UTSW	19	6,126,468 (GRCm39)	missense	probably damaging	0.99
R3717:Vps51	UTSW	19	6,127,198 (GRCm39)	utr 3 prime	probably benign
R3769:Vps51	UTSW	19	6,126,378 (GRCm39)	missense	possibly damaging	0.54
R5192:Vps51	UTSW	19	6,120,497 (GRCm39)	missense	possibly damaging	0.88
R5210:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5256:Vps51	UTSW	19	6,120,518 (GRCm39)	missense	probably benign	0.00
R5260:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5261:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5274:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5294:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5295:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5389:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5391:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5392:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5393:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5421:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5422:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5497:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5498:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5499:Vps51	UTSW	19	6,121,063 (GRCm39)	missense	probably benign	0.00
R5671:Vps51	UTSW	19	6,118,224 (GRCm39)	missense	probably benign	0.18
R5963:Vps51	UTSW	19	6,118,320 (GRCm39)	missense	probably damaging	1.00
R5989:Vps51	UTSW	19	6,126,402 (GRCm39)	missense	probably damaging	0.96
R6427:Vps51	UTSW	19	6,120,947 (GRCm39)	missense	possibly damaging	0.77
R7247:Vps51	UTSW	19	6,127,419 (GRCm39)	utr 3 prime	probably benign
R9344:Vps51	UTSW	19	6,126,345 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGAAAACCTAGTCTGAAACCC -3'
(R):5'- CTTAGGACCAGTCTCCCGTTAC -3'

Sequencing Primer
(F):5'- ACCTAGTCTGAAACCCAGTTTTTAGC -3'
(R):5'- TTACACCCGTGAGCACACTGTG -3'

Posted On

2014-06-30