Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00845:Vps50'

278004

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 #

IGL00845

Quality Score

Status

Chromosome

Chromosomal Location

3498393-3603531 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 3532177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 227 (Q227*)

Ref Sequence

ENSEMBL: ENSMUSP00000128323 (fasta)

Gene Model

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

AlphaFold

Q8CI71

Predicted Effect

probably null
Transcript: ENSMUST00000001412
AA Change: Q227*

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: Q227*

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 null
Transcript: ENSMUST00000164052
AA Change: Q227*

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: Q227*

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 null
Transcript: ENSMUST00000170873
AA Change: Q227*

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: Q227*

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,823,174 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,038,250 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,480,757 (GRCm39)	S4473F	probably damaging	Het
Mcf2	T	A	X: 59,172,446 (GRCm39)	D429V	probably damaging	Het
Myo15a	A	G	11: 60,368,605 (GRCm39)	D455G	probably damaging	Het
Myom1	T	C	17: 71,391,424 (GRCm39)	Y978H	probably damaging	Het
Naglu	A	G	11: 100,967,778 (GRCm39)	E576G	possibly damaging	Het
Rbm20	T	C	19: 53,806,380 (GRCm39)	Y487H	probably damaging	Het
Slc12a1	T	A	2: 125,030,158 (GRCm39)	C577S	probably damaging	Het
Slc34a2	T	C	5: 53,215,696 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,867,191 (GRCm39)	T125I	probably damaging	Het
Tbc1d21	C	T	9: 58,269,745 (GRCm39)	V198I	possibly damaging	Het
Tcp11l2	T	C	10: 84,440,847 (GRCm39)	V351A	possibly damaging	Het
Tdrd6	T	C	17: 43,937,607 (GRCm39)	D1147G	probably benign	Het
Tmem185a	A	T	X: 69,505,923 (GRCm39)		probably null	Het
Zfp599	T	A	9: 22,162,814 (GRCm39)		probably benign	Het
Zmym4	A	G	4: 126,794,406 (GRCm39)	V908A	probably benign	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
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
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

2015-04-16