Incidental Mutation 'R6626:Vps50'
ID 524798
Institutional Source Beutler Lab
Gene Symbol Vps50
Ensembl Gene ENSMUSG00000001376
Gene Name VPS50 EARP/GARPII complex subunit
Synonyms Ccdc132, 1700034M03Rik, 8430415E05Rik
MMRRC Submission 044748-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.890) question?
Stock # R6626 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 3498393-3603531 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 3551101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 388 (W388*)
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: W388*
SMART Domains Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: W388*

DomainStartEndE-ValueType
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: W388*
SMART Domains Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: W388*

DomainStartEndE-ValueType
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: W388*
SMART Domains Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: W388*

DomainStartEndE-ValueType
Pfam:DUF2450 54 345 5.3e-111 PFAM
low complexity region 659 676 N/A INTRINSIC
Pfam:DUF2451 723 933 2.6e-90 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T C 11: 3,888,056 (GRCm39) H110R unknown Het
Adgrv1 T A 13: 81,666,245 (GRCm39) D1937V probably damaging Het
Ank1 T A 8: 23,465,207 (GRCm39) L19H probably damaging Het
Bcl9 C T 3: 97,122,712 (GRCm39) R29H probably benign Het
Boc A T 16: 44,340,803 (GRCm39) I49N possibly damaging Het
C8a T C 4: 104,703,164 (GRCm39) I298V probably benign Het
Cacna1s T C 1: 136,022,703 (GRCm39) S879P probably damaging Het
Cacna2d3 T C 14: 28,786,143 (GRCm39) probably benign Het
Dnm1 A G 2: 32,230,892 (GRCm39) I63T probably damaging Het
Flnb C T 14: 7,929,012 (GRCm38) R1914C probably damaging Het
Gm9493 A T 19: 23,597,209 (GRCm39) K35M possibly damaging Het
Gpld1 T C 13: 25,163,953 (GRCm39) S552P probably damaging Het
Hacd1 T A 2: 14,031,755 (GRCm39) I243F probably benign Het
Klhdc4 A G 8: 122,546,901 (GRCm39) V110A probably benign Het
Krt26 C T 11: 99,220,528 (GRCm39) V441M probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nav2 A G 7: 49,244,100 (GRCm39) Y2109C probably damaging Het
Ncbp3 T A 11: 72,964,210 (GRCm39) S387T possibly damaging Het
Notch2 T G 3: 98,008,921 (GRCm39) V513G probably damaging Het
Nt5c1b A T 12: 10,424,837 (GRCm39) R128* probably null Het
Olig2 T C 16: 91,024,044 (GRCm39) S253P unknown Het
Or6b1 A G 6: 42,815,582 (GRCm39) M256V probably benign Het
Or8g17 A G 9: 38,930,402 (GRCm39) V145A possibly damaging Het
Or8k53 C T 2: 86,177,364 (GRCm39) V249I possibly damaging Het
Phkb T A 8: 86,648,780 (GRCm39) F199I probably damaging Het
Rnf17 A G 14: 56,665,381 (GRCm39) T178A possibly damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Sfxn2 A T 19: 46,570,967 (GRCm39) N9I possibly damaging Het
Slc16a4 G A 3: 107,208,512 (GRCm39) A341T possibly damaging Het
Spata31h1 A G 10: 82,128,667 (GRCm39) F1448L probably benign Het
Tank T A 2: 61,480,640 (GRCm39) probably benign Het
Tnr A T 1: 159,677,822 (GRCm39) Y69F probably damaging Het
Trp53bp1 T C 2: 121,038,284 (GRCm39) D1518G probably damaging Het
Txndc16 T C 14: 45,398,792 (GRCm39) probably null Het
Ugp2 A G 11: 21,281,028 (GRCm39) Y227H probably damaging Het
Zfp516 T A 18: 83,006,232 (GRCm39) D1045E probably damaging Het
Zscan10 C T 17: 23,824,831 (GRCm39) P96S probably damaging Het
Other mutations in Vps50
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCTTTGAGCATATATCTTGCCCAG -3'
(R):5'- ACACCGGAGATTTTCAAACTAAGAG -3'

Sequencing Primer
(F):5'- TCTTTCATTTTCAGAAGGAAG -3'
(R):5'- GAGCCAAAGATGAACTAGC -3'
Posted On 2018-06-22