Incidental Mutation 'IGL00850:Vps50'
ID278009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps50
Ensembl Gene ENSMUSG00000001376
Gene NameVPS50 EARP/GARPII complex subunit
Synonyms8430415E05Rik, 1700034M03Rik, Ccdc132
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.903) question?
Stock #IGL00850
Quality Score
Status
Chromosome6
Chromosomal Location3498382-3603531 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 3532177 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000001412
AA Change: Q227*
SMART Domains Protein: ENSMUSP00000001412
Gene: ENSMUSG00000001376
AA Change: Q227*

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: Q227*
SMART Domains Protein: ENSMUSP00000125872
Gene: ENSMUSG00000001376
AA Change: Q227*

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: Q227*
SMART Domains Protein: ENSMUSP00000128323
Gene: ENSMUSG00000001376
AA Change: Q227*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183935
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand1 C A 10: 119,211,135 V817L probably benign Het
Cdc16 T G 8: 13,767,575 Y295* probably null Het
Cdk12 T A 11: 98,222,665 N758K unknown Het
Cep295 A G 9: 15,322,852 L2216S probably benign Het
Chpf2 A G 5: 24,592,261 E735G probably damaging Het
Chrdl2 A G 7: 100,034,641 T432A probably damaging Het
Cyp4a12b T A 4: 115,438,049 probably null Het
D130043K22Rik T G 13: 24,867,174 D464E probably damaging Het
Dst G T 1: 34,306,624 A7622S probably damaging Het
Fdx1 A T 9: 51,948,649 I127N probably damaging Het
Fem1a A G 17: 56,258,355 I483V possibly damaging Het
Gcc2 C A 10: 58,258,248 D51E probably benign Het
Glrb A G 3: 80,861,781 S178P probably damaging Het
Inpp4b A G 8: 81,856,750 Q161R probably damaging Het
Lrrc45 T C 11: 120,720,610 probably benign Het
Myh3 T C 11: 67,090,855 Y757H probably damaging Het
Myo1h A C 5: 114,315,071 probably benign Het
Nudt13 T A 14: 20,306,350 S114R probably damaging Het
Omg T C 11: 79,502,714 N106S possibly damaging Het
Pbrm1 T C 14: 31,087,619 V1163A probably damaging Het
Pi4k2b T A 5: 52,760,950 Y350* probably null Het
Prr29 C A 11: 106,375,207 T32K possibly damaging Het
Psd4 C T 2: 24,394,286 A54V probably benign Het
Scd3 A G 19: 44,235,808 H160R probably damaging Het
Shroom3 T C 5: 92,951,065 L1387P probably damaging Het
Stk35 A G 2: 129,801,992 T299A probably damaging Het
Thsd7b G A 1: 130,165,077 S1238N probably benign Het
Utp11 T C 4: 124,682,457 K131R probably benign Het
Zan T C 5: 137,464,113 T935A unknown Het
Other mutations in Vps50
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4843:Vps50 UTSW 6 3536974 critical splice donor site probably null
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
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
Posted On2015-04-16