Incidental Mutation 'IGL02627:Vps29'
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ID301136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps29
Ensembl Gene ENSMUSG00000029462
Gene NameVPS29 retromer complex component
SynonymsPEP11, 2010015D08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL02627
Quality Score
Status
Chromosome5
Chromosomal Location122354369-122364984 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122362845 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 158 (S158P)
Ref Sequence ENSEMBL: ENSMUSP00000121020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000111729] [ENSMUST00000117868] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000145821] [ENSMUST00000154686] [ENSMUST00000155671]
Predicted Effect probably benign
Transcript: ENSMUST00000031419
SMART Domains Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

DomainStartEndE-ValueType
Pfam:FAM216B 50 160 6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111729
SMART Domains Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117868
SMART Domains Protein: ENSMUSP00000113345
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
Pfam:Metallophos_2 1 143 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118765
AA Change: F79S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462
AA Change: F79S

DomainStartEndE-ValueType
PDB:1W24|A 1 65 7e-42 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000118830
AA Change: S162P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462
AA Change: S162P

DomainStartEndE-ValueType
Pfam:Metallophos_2 6 162 1.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132785
Predicted Effect probably benign
Transcript: ENSMUST00000145821
SMART Domains Protein: ENSMUSP00000123593
Gene: ENSMUSG00000029462

DomainStartEndE-ValueType
Pfam:Metallophos_2 11 124 1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154686
Predicted Effect probably benign
Transcript: ENSMUST00000155671
AA Change: S158P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462
AA Change: S158P

DomainStartEndE-ValueType
Pfam:Metallophos_2 1 158 3.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199086
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
2610301B20Rik G A 4: 10,898,039 C207Y probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in Vps29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Vps29 APN 5 122362867 missense probably damaging 1.00
IGL02716:Vps29 APN 5 122362066 missense probably benign 0.20
R4807:Vps29 UTSW 5 122362888 missense probably damaging 1.00
R5619:Vps29 UTSW 5 122354448 utr 5 prime probably benign
R7431:Vps29 UTSW 5 122354478 missense probably benign
R7866:Vps29 UTSW 5 122362117 missense possibly damaging 0.91
R8167:Vps29 UTSW 5 122362814 missense possibly damaging 0.95
Posted On2015-04-16