Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Vps51'

563651

Institutional Source

Beutler Lab

Gene Symbol

Vps51

Ensembl Gene

ENSMUSG00000024797

Gene Name

VPS51 GARP complex subunit

Synonyms

3110057M17Rik, 1110014N23Rik

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6117872-6127217 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 6127419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025707] [ENSMUST00000025711] [ENSMUST00000143303] [ENSMUST00000149347] [ENSMUST00000159832] [ENSMUST00000160233] [ENSMUST00000160448] [ENSMUST00000160590] [ENSMUST00000160712] [ENSMUST00000160977] [ENSMUST00000161548]

AlphaFold

Q3UVL4

Predicted Effect

probably benign
Transcript: ENSMUST00000025707

SMART Domains

Protein: ENSMUSP00000025707
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC
transmembrane domain	265	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025711

SMART Domains

Protein: ENSMUSP00000025711
Gene: ENSMUSG00000024799

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: ENSMUST00000143303

SMART Domains

Protein: ENSMUSP00000121339
Gene: ENSMUSG00000047733

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC
transmembrane domain	82	99	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149347

SMART Domains

Protein: ENSMUSP00000116436
Gene: ENSMUSG00000047733

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159832

SMART Domains

Protein: ENSMUSP00000123994
Gene: ENSMUSG00000024797

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

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: ENSMUST00000160448

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: ENSMUST00000160712

SMART Domains

Protein: ENSMUSP00000125085
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160977

SMART Domains

Protein: ENSMUSP00000125176
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161548

SMART Domains

Protein: ENSMUSP00000125459
Gene: ENSMUSG00000024792

Domain	Start	End	E-Value	Type
RING	53	100	1.14e-1	SMART
low complexity region	149	160	N/A	INTRINSIC
low complexity region	184	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162374

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
R1909:Vps51	UTSW	19	6,119,499 (GRCm39)	missense	probably benign	0.03
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
R9344:Vps51	UTSW	19	6,126,345 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGGGAACAGATGCACTTCC -3'
(R):5'- GCTCACGTATCACATTTCACTAAC -3'

Sequencing Primer
(F):5'- AACAGATGCACTTCCGGGGAC -3'
(R):5'- CTCATATTGAATGACTCCTTGGAGAC -3'

Posted On

2019-06-26