Mutagenetix > Incidental Mutations

Incidental Mutation 'R4843:Vps50'

374464

Institutional Source

Beutler Lab

Gene Symbol

Vps50

Ensembl Gene

ENSMUSG00000001376

Gene Name

VPS50 EARP/GARPII complex subunit

Synonyms

8430415E05Rik, 1700034M03Rik, Ccdc132

MMRRC Submission

042456-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.882) question?

Stock #

R4843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3498382-3603531 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 3536974 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000001412

SMART Domains

Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376

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

SMART Domains

Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376

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

SMART Domains

Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376

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

Predicted Effect

probably null
Transcript: ENSMUST00000185153

Meta Mutation Damage Score

0.9752

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	A	12: 30,896,145	K124*	probably null	Het
Actl11	G	T	9: 107,929,492	C338F	possibly damaging	Het
Adam5	G	A	8: 24,813,536	S125F	probably damaging	Het
Ap2s1	C	A	7: 16,743,346	A44D	possibly damaging	Het
AW554918	T	C	18: 25,340,000	V84A	probably benign	Het
Bsn	G	A	9: 108,107,189	T3222M	unknown	Het
Car15	A	G	16: 17,836,608	Y155H	possibly damaging	Het
Cdca2	G	T	14: 67,676,976	P945T	probably damaging	Het
Cdh16	A	G	8: 104,621,540	F182L	probably damaging	Het
Cers6	G	A	2: 69,068,659	A214T	probably benign	Het
Ces1g	A	T	8: 93,331,265	M136K	probably damaging	Het
Cnppd1	A	G	1: 75,136,442	V394A	probably benign	Het
Cyp3a59	A	T	5: 146,096,261	I148F	possibly damaging	Het
Dnah1	G	A	14: 31,264,963	A3624V	probably damaging	Het
Exoc3l4	T	C	12: 111,428,053		probably benign	Het
Fap	G	T	2: 62,544,374	P227Q	probably damaging	Het
Fbxw10	G	A	11: 62,847,325	R15H	possibly damaging	Het
Gm11011	T	C	2: 169,587,320		probably benign	Het
Gm11146	A	C	16: 77,595,256		probably benign	Het
Grip1	G	A	10: 119,930,015	R84Q	probably damaging	Het
Hipk2	A	G	6: 38,819,257	C19R	possibly damaging	Het
Hmgcll1	A	G	9: 76,072,634	D102G	possibly damaging	Het
Ighv16-1	A	T	12: 114,068,884	Y99*	probably null	Het
Kank1	T	G	19: 25,431,007	S1283R	probably damaging	Het
Kcnip1	T	A	11: 33,644,504	H95L	probably benign	Het
L3mbtl3	A	T	10: 26,331,879	L314Q	unknown	Het
Marveld3	C	A	8: 109,962,070	R13L	possibly damaging	Het
Mtrf1l	G	T	10: 5,823,696	P23Q	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr494	G	A	7: 108,368,143	A218T	probably benign	Het
Olfr786	G	T	10: 129,437,447	V212L	probably benign	Het
Paqr7	A	G	4: 134,506,967	Y45C	probably damaging	Het
Plod3	G	A	5: 136,991,000	W428*	probably null	Het
Pnisr	T	A	4: 21,857,400		probably benign	Het
Ppip5k1	C	A	2: 121,326,887	R1046L	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Prmt5	A	T	14: 54,516,125	I99N	probably benign	Het
Ripk2	T	C	4: 16,155,073	T149A	probably damaging	Het
Rpf2	C	A	10: 40,247,002		probably benign	Het
Rtf1	T	A	2: 119,705,536	D190E	possibly damaging	Het
Shank2	T	A	7: 144,031,409	M49K	probably benign	Het
Snd1	T	G	6: 28,668,643	V443G	probably damaging	Het
Spag9	T	C	11: 94,097,818	F555L	probably damaging	Het
Srfbp1	A	G	18: 52,488,677	K270R	probably benign	Het
Tenm2	T	A	11: 36,024,020	N2230I	probably damaging	Het
Tmem106a	T	C	11: 101,586,195		probably benign	Het
Tpsg1	A	T	17: 25,370,617		probably benign	Het
Trank1	A	G	9: 111,366,078	S1057G	probably benign	Het
Unc13d	G	A	11: 116,074,259	T220M	probably damaging	Het
Vmn1r68	T	C	7: 10,527,977	T65A	probably benign	Het
Washc5	A	G	15: 59,350,371	I85T	possibly damaging	Het
Zfp677	C	T	17: 21,392,526	T2I	probably benign	Het
Zxdc	A	G	6: 90,382,272	T629A	possibly damaging	Het

Other mutations in Vps50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Vps50	APN	6	3602670	missense	probably benign	0.00
IGL00764:Vps50	APN	6	3532177	nonsense	probably null
IGL00844:Vps50	APN	6	3532177	nonsense	probably null
IGL00845:Vps50	APN	6	3532177	nonsense	probably null
IGL00850:Vps50	APN	6	3532177	nonsense	probably null
IGL01417:Vps50	APN	6	3522377	splice site	probably benign
IGL01648:Vps50	APN	6	3498545	missense	probably benign	0.25
IGL03238:Vps50	APN	6	3594771	missense	possibly damaging	0.60
IGL03285:Vps50	APN	6	3555011	missense	possibly damaging	0.71
R0309:Vps50	UTSW	6	3536853	missense	possibly damaging	0.90
R0513:Vps50	UTSW	6	3520210	missense	probably damaging	1.00
R0714:Vps50	UTSW	6	3571105	missense	probably benign	0.05
R1066:Vps50	UTSW	6	3533565	missense	probably damaging	1.00
R1210:Vps50	UTSW	6	3594884	missense	probably damaging	0.99
R1420:Vps50	UTSW	6	3588007	nonsense	probably null
R1437:Vps50	UTSW	6	3517852	nonsense	probably null
R1451:Vps50	UTSW	6	3565628	missense	possibly damaging	0.77
R1470:Vps50	UTSW	6	3517777	splice site	probably benign
R1576:Vps50	UTSW	6	3545568	missense	possibly damaging	0.60
R1599:Vps50	UTSW	6	3565537	missense	probably benign	0.00
R1860:Vps50	UTSW	6	3520279	critical splice donor site	probably null
R2055:Vps50	UTSW	6	3522265	missense	probably benign	0.01
R2109:Vps50	UTSW	6	3555379	missense	probably damaging	0.99
R3408:Vps50	UTSW	6	3600212	missense	probably damaging	1.00
R3732:Vps50	UTSW	6	3519243	synonymous	silent
R3764:Vps50	UTSW	6	3588063	missense	probably damaging	1.00
R3828:Vps50	UTSW	6	3533500	missense	probably benign
R4092:Vps50	UTSW	6	3551037	missense	probably benign
R4385:Vps50	UTSW	6	3516694	missense	probably benign	0.00
R4588:Vps50	UTSW	6	3562306	missense	probably damaging	1.00
R4978:Vps50	UTSW	6	3517808	missense	probably benign
R5368:Vps50	UTSW	6	3567739	missense	possibly damaging	0.88
R5867:Vps50	UTSW	6	3536965	missense	probably damaging	1.00
R6591:Vps50	UTSW	6	3504939	critical splice donor site	probably null
R6626:Vps50	UTSW	6	3551101	nonsense	probably null
R6691:Vps50	UTSW	6	3504939	critical splice donor site	probably null
R6707:Vps50	UTSW	6	3545583	missense	probably damaging	1.00
R6751:Vps50	UTSW	6	3600274	missense	probably damaging	1.00
R6773:Vps50	UTSW	6	3592560	missense	probably benign	0.25
R6867:Vps50	UTSW	6	3517835	missense	probably benign	0.16
R6883:Vps50	UTSW	6	3498513	unclassified	probably benign
R6963:Vps50	UTSW	6	3592577	critical splice donor site	probably null
R7147:Vps50	UTSW	6	3567750	nonsense	probably null
R7150:Vps50	UTSW	6	3578854	missense	possibly damaging	0.89
R7167:Vps50	UTSW	6	3600256	missense	probably damaging	1.00
R7235:Vps50	UTSW	6	3588078	missense	probably benign	0.01
R7385:Vps50	UTSW	6	3602708	missense	probably benign	0.00
R7662:Vps50	UTSW	6	3562304	missense	probably damaging	1.00
R7782:Vps50	UTSW	6	3532202	critical splice donor site	probably null
R8188:Vps50	UTSW	6	3562297	nonsense	probably null
R8232:Vps50	UTSW	6	3600139	missense	probably damaging	1.00
R8535:Vps50	UTSW	6	3565612	missense	possibly damaging	0.95
X0025:Vps50	UTSW	6	3571012	missense	probably benign	0.02
X0062:Vps50	UTSW	6	3594833	missense	probably benign
Z1176:Vps50	UTSW	6	3578792	critical splice acceptor site	probably null
Z1177:Vps50	UTSW	6	3555367	critical splice acceptor site	probably null
Z1177:Vps50	UTSW	6	3562312	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCCGTGCTGTTGCTCTAG -3'
(R):5'- AAATATGTCCACTCCTCGCCTG -3'

Sequencing Primer
(F):5'- AGTCTGTTCTGTCTAGTCTTGAC -3'
(R):5'- CGCCTGCTTTCTAGGAAGAAC -3'

Posted On

2016-03-16