Incidental Mutation 'IGL00917:Vps37a'
ID28012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps37a
Ensembl Gene ENSMUSG00000031600
Gene Namevacuolar protein sorting 37A
SynonymsD8Ertd531e, 4930592A21Rik, 2210018P21Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.349) question?
Stock #IGL00917
Quality Score
Status
Chromosome8
Chromosomal Location40511783-40551134 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40540738 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 258 (M258K)
Ref Sequence ENSEMBL: ENSMUSP00000096415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098817]
Predicted Effect probably benign
Transcript: ENSMUST00000098817
AA Change: M258K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600
AA Change: M258K

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
Blast:UBCc 29 128 6e-6 BLAST
low complexity region 155 164 N/A INTRINSIC
low complexity region 171 189 N/A INTRINSIC
Pfam:Mod_r 235 380 2.7e-39 PFAM
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 the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029I15Rik T A 2: 92,383,218 S39T probably benign Het
Abcc5 A T 16: 20,422,357 V26E probably benign Het
Adcy4 T A 14: 55,773,663 probably null Het
Adgrl3 C T 5: 81,693,574 T766I possibly damaging Het
Atad2b A T 12: 4,965,837 probably benign Het
Atp8b4 A T 2: 126,374,533 S664R probably benign Het
Cand1 A C 10: 119,210,936 I883S possibly damaging Het
Cfap53 A G 18: 74,299,296 D85G probably benign Het
Chd4 G A 6: 125,104,946 R514Q possibly damaging Het
Cnst T C 1: 179,624,992 probably benign Het
Col6a6 T C 9: 105,784,254 probably benign Het
Cux2 A C 5: 121,869,105 L831R probably null Het
Elf2 T A 3: 51,308,046 probably benign Het
Glp1r A G 17: 30,919,469 probably benign Het
Hus1b A G 13: 30,947,544 M44T probably benign Het
Mbd6 A G 10: 127,284,119 probably benign Het
Med31 T A 11: 72,212,079 probably null Het
Mmrn1 C T 6: 60,975,910 Q392* probably null Het
Mrpl3 T G 9: 105,057,041 V121G probably damaging Het
Olfr1349 A G 7: 6,514,578 S284P probably damaging Het
Olfr310 A T 7: 86,269,441 M116K probably damaging Het
Palld A G 8: 61,515,935 V879A possibly damaging Het
Pkn2 G T 3: 142,853,625 D46E probably damaging Het
Prkdc T A 16: 15,739,564 C2244S probably damaging Het
Prss50 T A 9: 110,862,406 H259Q possibly damaging Het
Rab8b C T 9: 66,854,687 W102* probably null Het
Rad54l2 A T 9: 106,710,439 L709Q possibly damaging Het
Rapgef1 T C 2: 29,702,523 V471A probably benign Het
Rbms3 A G 9: 117,110,115 S27P probably damaging Het
Rpl35a A G 16: 33,058,731 K73E possibly damaging Het
Sugct A T 13: 16,857,918 Y416* probably null Het
Top2b A G 14: 16,407,354 I713V probably benign Het
Unc79 A T 12: 103,088,507 R777S possibly damaging Het
Zfp944 G A 17: 22,339,784 L161F probably benign Het
Other mutations in Vps37a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Vps37a APN 8 40540730 missense probably damaging 0.99
PIT4377001:Vps37a UTSW 8 40537046 missense possibly damaging 0.71
R0090:Vps37a UTSW 8 40526989 missense possibly damaging 0.92
R1106:Vps37a UTSW 8 40512206 missense probably damaging 1.00
R1815:Vps37a UTSW 8 40512121 missense probably benign
R3612:Vps37a UTSW 8 40544936 splice site probably benign
R5775:Vps37a UTSW 8 40529119 missense probably damaging 1.00
R5948:Vps37a UTSW 8 40540711 missense possibly damaging 0.64
R6048:Vps37a UTSW 8 40528322 missense probably damaging 1.00
R6337:Vps37a UTSW 8 40540708 missense probably benign 0.10
R6715:Vps37a UTSW 8 40540861 intron probably null
Posted On2013-04-17