Mutagenetix > Incidental Mutation

Incidental Mutation 'R1066:Vps50'

85995

Institutional Source

Beutler Lab

Gene Symbol

Vps50

Ensembl Gene

ENSMUSG00000001376

Gene Name

VPS50 EARP/GARPII complex subunit

Synonyms

Ccdc132, 1700034M03Rik, 8430415E05Rik

MMRRC Submission

039152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R1066 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3498393-3603531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3533565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 266 (T266P)

Ref Sequence

ENSEMBL: ENSMUSP00000128323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001412] [ENSMUST00000164052] [ENSMUST00000170873]

AlphaFold

Q8CI71

Predicted Effect

probably damaging
Transcript: ENSMUST00000001412
AA Change: T266P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: T266P

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	2.5e-112	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	957	2.2e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164052
AA Change: T266P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: T266P

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.2e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	929	1.1e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170873
AA Change: T266P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: T266P

Domain	Start	End	E-Value	Type
Pfam:DUF2450	54	345	5.3e-111	PFAM
low complexity region	659	676	N/A	INTRINSIC
Pfam:DUF2451	723	933	2.6e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183935

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,867,837 (GRCm39)	C554S	probably damaging	Het
Adarb2	T	G	13: 8,807,359 (GRCm39)	F720C	probably benign	Het
Arid5b	T	C	10: 67,934,186 (GRCm39)	D572G	probably benign	Het
BB014433	C	T	8: 15,092,185 (GRCm39)	V223M	probably damaging	Het
Boc	T	C	16: 44,311,047 (GRCm39)		probably null	Het
Brf2	T	C	8: 27,613,974 (GRCm39)	E404G	probably benign	Het
Ces3a	T	A	8: 105,782,288 (GRCm39)	H380Q	probably benign	Het
Chd9	T	A	8: 91,712,764 (GRCm39)	Y389*	probably null	Het
Csmd3	A	G	15: 47,777,361 (GRCm39)	F1182L	probably damaging	Het
Dnah2	C	A	11: 69,338,645 (GRCm39)	W3169L	probably damaging	Het
Dnah3	T	A	7: 119,660,232 (GRCm39)	E802D	probably damaging	Het
Dtx4	G	T	19: 12,478,373 (GRCm39)	T70K	probably damaging	Het
Fat4	T	C	3: 39,011,376 (GRCm39)	Y2159H	probably damaging	Het
Flrt2	T	A	12: 95,745,833 (GRCm39)	V57E	probably damaging	Het
Gsdmc2	T	A	15: 63,696,899 (GRCm39)	Y424F	possibly damaging	Het
Igfn1	T	C	1: 135,898,463 (GRCm39)	E701G	probably benign	Het
Klhl42	T	C	6: 147,009,397 (GRCm39)	V412A	probably benign	Het
Mkln1	A	C	6: 31,395,922 (GRCm39)	N52T	possibly damaging	Het
Msantd5f6	C	A	4: 73,320,066 (GRCm39)	V238L	possibly damaging	Het
Myo15b	A	T	11: 115,770,577 (GRCm39)	M1519L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or5b113	T	C	19: 13,342,451 (GRCm39)	M153T	probably benign	Het
P4ha3	G	T	7: 99,967,270 (GRCm39)	V360L	possibly damaging	Het
Pals2	A	T	6: 50,122,847 (GRCm39)	N31I	possibly damaging	Het
Phf14	T	A	6: 11,987,254 (GRCm39)	D611E	possibly damaging	Het
Pik3r1	T	A	13: 101,825,171 (GRCm39)	R465S	probably damaging	Het
Reep3	G	T	10: 66,870,445 (GRCm39)	T117K	probably damaging	Het
Reln	G	T	5: 22,239,662 (GRCm39)	N868K	probably damaging	Het
Sdcbp	T	G	4: 6,385,120 (GRCm39)	I113S	probably damaging	Het
Sema4c	A	T	1: 36,589,281 (GRCm39)	V615E	possibly damaging	Het
Slc25a18	A	G	6: 120,765,249 (GRCm39)		probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Uba2	A	T	7: 33,858,247 (GRCm39)	F70I	probably damaging	Het
Usp42	A	T	5: 143,703,796 (GRCm39)	H422Q	probably damaging	Het
Vmn2r86	C	T	10: 130,282,145 (GRCm39)	V824I	probably benign	Het
Znhit6	T	A	3: 145,284,252 (GRCm39)	D141E	probably damaging	Het

Other mutations in Vps50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Vps50	APN	6	3,602,670 (GRCm39)	missense	probably benign	0.00
IGL00764:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00844:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00845:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL00850:Vps50	APN	6	3,532,177 (GRCm39)	nonsense	probably null
IGL01417:Vps50	APN	6	3,522,377 (GRCm39)	splice site	probably benign
IGL01648:Vps50	APN	6	3,498,545 (GRCm39)	missense	probably benign	0.25
IGL03238:Vps50	APN	6	3,594,771 (GRCm39)	missense	possibly damaging	0.60
IGL03285:Vps50	APN	6	3,555,011 (GRCm39)	missense	possibly damaging	0.71
R0309:Vps50	UTSW	6	3,536,853 (GRCm39)	missense	possibly damaging	0.90
R0513:Vps50	UTSW	6	3,520,210 (GRCm39)	missense	probably damaging	1.00
R0714:Vps50	UTSW	6	3,571,105 (GRCm39)	missense	probably benign	0.05
R1210:Vps50	UTSW	6	3,594,884 (GRCm39)	missense	probably damaging	0.99
R1420:Vps50	UTSW	6	3,588,007 (GRCm39)	nonsense	probably null
R1437:Vps50	UTSW	6	3,517,852 (GRCm39)	nonsense	probably null
R1451:Vps50	UTSW	6	3,565,628 (GRCm39)	missense	possibly damaging	0.77
R1470:Vps50	UTSW	6	3,517,777 (GRCm39)	splice site	probably benign
R1576:Vps50	UTSW	6	3,545,568 (GRCm39)	missense	possibly damaging	0.60
R1599:Vps50	UTSW	6	3,565,537 (GRCm39)	missense	probably benign	0.00
R1860:Vps50	UTSW	6	3,520,279 (GRCm39)	critical splice donor site	probably null
R2055:Vps50	UTSW	6	3,522,265 (GRCm39)	missense	probably benign	0.01
R2109:Vps50	UTSW	6	3,555,379 (GRCm39)	missense	probably damaging	0.99
R3408:Vps50	UTSW	6	3,600,212 (GRCm39)	missense	probably damaging	1.00
R3732:Vps50	UTSW	6	3,519,243 (GRCm39)	synonymous	silent
R3764:Vps50	UTSW	6	3,588,063 (GRCm39)	missense	probably damaging	1.00
R3828:Vps50	UTSW	6	3,533,500 (GRCm39)	missense	probably benign
R4092:Vps50	UTSW	6	3,551,037 (GRCm39)	missense	probably benign
R4385:Vps50	UTSW	6	3,516,694 (GRCm39)	missense	probably benign	0.00
R4588:Vps50	UTSW	6	3,562,306 (GRCm39)	missense	probably damaging	1.00
R4843:Vps50	UTSW	6	3,536,974 (GRCm39)	critical splice donor site	probably null
R4978:Vps50	UTSW	6	3,517,808 (GRCm39)	missense	probably benign
R5368:Vps50	UTSW	6	3,567,739 (GRCm39)	missense	possibly damaging	0.88
R5867:Vps50	UTSW	6	3,536,965 (GRCm39)	missense	probably damaging	1.00
R6591:Vps50	UTSW	6	3,504,939 (GRCm39)	critical splice donor site	probably null
R6626:Vps50	UTSW	6	3,551,101 (GRCm39)	nonsense	probably null
R6691:Vps50	UTSW	6	3,504,939 (GRCm39)	critical splice donor site	probably null
R6707:Vps50	UTSW	6	3,545,583 (GRCm39)	missense	probably damaging	1.00
R6751:Vps50	UTSW	6	3,600,274 (GRCm39)	missense	probably damaging	1.00
R6773:Vps50	UTSW	6	3,592,560 (GRCm39)	missense	probably benign	0.25
R6867:Vps50	UTSW	6	3,517,835 (GRCm39)	missense	probably benign	0.16
R6883:Vps50	UTSW	6	3,498,513 (GRCm39)	unclassified	probably benign
R6963:Vps50	UTSW	6	3,592,577 (GRCm39)	critical splice donor site	probably null
R7147:Vps50	UTSW	6	3,567,750 (GRCm39)	nonsense	probably null
R7150:Vps50	UTSW	6	3,578,854 (GRCm39)	missense	possibly damaging	0.89
R7167:Vps50	UTSW	6	3,600,256 (GRCm39)	missense	probably damaging	1.00
R7235:Vps50	UTSW	6	3,588,078 (GRCm39)	missense	probably benign	0.01
R7385:Vps50	UTSW	6	3,602,708 (GRCm39)	missense	probably benign	0.00
R7662:Vps50	UTSW	6	3,562,304 (GRCm39)	missense	probably damaging	1.00
R7782:Vps50	UTSW	6	3,532,202 (GRCm39)	critical splice donor site	probably null
R8188:Vps50	UTSW	6	3,562,297 (GRCm39)	nonsense	probably null
R8232:Vps50	UTSW	6	3,600,139 (GRCm39)	missense	probably damaging	1.00
R8535:Vps50	UTSW	6	3,565,612 (GRCm39)	missense	possibly damaging	0.95
R8808:Vps50	UTSW	6	3,522,338 (GRCm39)	nonsense	probably null
R8845:Vps50	UTSW	6	3,504,926 (GRCm39)	missense	probably benign
R8889:Vps50	UTSW	6	3,536,967 (GRCm39)	missense	probably damaging	1.00
R8892:Vps50	UTSW	6	3,536,967 (GRCm39)	missense	probably damaging	1.00
R8911:Vps50	UTSW	6	3,516,710 (GRCm39)	missense	probably benign
R9089:Vps50	UTSW	6	3,536,884 (GRCm39)	missense	probably benign	0.02
R9116:Vps50	UTSW	6	3,588,091 (GRCm39)	splice site	probably benign
R9381:Vps50	UTSW	6	3,592,433 (GRCm39)	missense	probably benign
R9440:Vps50	UTSW	6	3,516,724 (GRCm39)	missense	probably benign	0.01
R9485:Vps50	UTSW	6	3,592,557 (GRCm39)	missense	probably damaging	0.99
R9585:Vps50	UTSW	6	3,600,348 (GRCm39)	missense	probably benign	0.03
R9645:Vps50	UTSW	6	3,516,706 (GRCm39)	missense	possibly damaging	0.94
R9761:Vps50	UTSW	6	3,519,218 (GRCm39)	missense	probably damaging	1.00
R9796:Vps50	UTSW	6	3,562,300 (GRCm39)	missense	probably damaging	1.00
X0025:Vps50	UTSW	6	3,571,012 (GRCm39)	missense	probably benign	0.02
X0062:Vps50	UTSW	6	3,594,833 (GRCm39)	missense	probably benign
Z1176:Vps50	UTSW	6	3,578,792 (GRCm39)	critical splice acceptor site	probably null
Z1177:Vps50	UTSW	6	3,562,312 (GRCm39)	missense	probably damaging	1.00
Z1177:Vps50	UTSW	6	3,555,367 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCTAACCAAAAGCAACTGACTTGAA -3'
(R):5'- CTTTGTGGTTGTCTTGCTCGCATAC -3'

Sequencing Primer
(F):5'- GGGTTTCAAGGTAAATACATTGCTC -3'
(R):5'- caatcttcctgcctcagcc -3'

Posted On

2013-11-18