Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03238:Vps50'

414156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps50

Ensembl Gene

ENSMUSG00000001376

Gene Name

VPS50 EARP/GARPII complex subunit

Synonyms

Ccdc132, 1700034M03Rik, 8430415E05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

IGL03238

Quality Score

Status

Chromosome

Chromosomal Location

3498393-3603531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3594771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 778 (K778R)

Ref Sequence

ENSEMBL: ENSMUSP00000128323 (fasta)

Gene Model

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

AlphaFold

Q8CI71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001412
AA Change: K778R

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: K778R

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

possibly damaging
Transcript: ENSMUST00000164052
AA Change: K778R

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: K778R

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

possibly damaging
Transcript: ENSMUST00000170873
AA Change: K778R

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: K778R

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: ENSMUST00000183532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184959

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,339 (GRCm39)	T285P	probably benign	Het
Abcf1	T	C	17: 36,274,215 (GRCm39)	K186E	probably damaging	Het
Adam3	T	C	8: 25,177,981 (GRCm39)		probably null	Het
Art1	T	C	7: 101,759,956 (GRCm39)	V85A	possibly damaging	Het
Ccdc110	A	G	8: 46,394,859 (GRCm39)	H250R	probably benign	Het
Cyp3a13	T	A	5: 137,897,151 (GRCm39)	I388F	probably damaging	Het
Dnah11	C	T	12: 118,073,633 (GRCm39)	V1425M	probably damaging	Het
Donson	G	A	16: 91,478,134 (GRCm39)	Q22*	probably null	Het
Eif2b2	A	G	12: 85,270,173 (GRCm39)	T238A	probably benign	Het
Emc2	T	A	15: 43,371,249 (GRCm39)		probably null	Het
Fkbp4	A	T	6: 128,411,720 (GRCm39)	V123E	probably damaging	Het
Frem2	A	T	3: 53,563,682 (GRCm39)	M275K	possibly damaging	Het
Gcat	T	A	15: 78,920,210 (GRCm39)		probably benign	Het
Gemin2	G	A	12: 59,063,748 (GRCm39)		probably benign	Het
Ilf3	T	A	9: 21,303,646 (GRCm39)	V169E	probably damaging	Het
Klra17	T	C	6: 129,845,773 (GRCm39)	H147R	probably benign	Het
Lama5	A	G	2: 179,830,367 (GRCm39)	I1880T	probably benign	Het
Lzts1	T	C	8: 69,591,446 (GRCm39)	D234G	probably damaging	Het
Map3k4	G	A	17: 12,490,045 (GRCm39)	P462L	probably benign	Het
Marchf6	C	A	15: 31,462,087 (GRCm39)		probably benign	Het
Mcm6	A	T	1: 128,283,257 (GRCm39)	F83I	probably benign	Het
Mtpn	A	G	6: 35,499,708 (GRCm39)	L32P	probably damaging	Het
Mybpc3	A	T	2: 90,962,004 (GRCm39)	I841F	probably damaging	Het
Ndst2	G	T	14: 20,778,572 (GRCm39)	H399N	probably damaging	Het
Npat	G	T	9: 53,481,726 (GRCm39)	V1145F	probably damaging	Het
Or51b6	G	A	7: 103,555,717 (GRCm39)	A21T	probably benign	Het
P2ry1	T	A	3: 60,911,916 (GRCm39)	S352T	probably damaging	Het
Plaa	T	C	4: 94,472,133 (GRCm39)	T326A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Prb1b	T	A	6: 132,289,308 (GRCm39)	Q172L	unknown	Het
Setd1a	C	T	7: 127,384,718 (GRCm39)	T523I	possibly damaging	Het
Sgcz	C	T	8: 38,030,294 (GRCm39)		probably null	Het
Slc12a2	T	C	18: 58,047,306 (GRCm39)	Y740H	possibly damaging	Het
Stab2	A	G	10: 86,690,985 (GRCm39)	C745R	probably damaging	Het
Tmem101	A	T	11: 102,046,611 (GRCm39)	L86Q	probably damaging	Het
Tmtc3	A	C	10: 100,313,702 (GRCm39)	F57V	probably damaging	Het
Washc5	G	A	15: 59,218,691 (GRCm39)	T692M	probably damaging	Het
Zc3hav1	A	T	6: 38,309,685 (GRCm39)	V379D	probably damaging	Het
Zfp142	G	T	1: 74,615,437 (GRCm39)	R459S	probably benign	Het
Zfp512b	A	G	2: 181,231,553 (GRCm39)	V199A	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
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
R1066:Vps50	UTSW	6	3,533,565 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02