Incidental Mutation 'IGL00917:Vps37a'
ID 28012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps37a
Ensembl Gene ENSMUSG00000031600
Gene Name vacuolar protein sorting 37A
Synonyms 4930592A21Rik, D8Ertd531e, 2210018P21Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # IGL00917
Quality Score
Status
Chromosome 8
Chromosomal Location 40964824-41003798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 40993779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 258 (M258K)
Ref Sequence ENSEMBL: ENSMUSP00000096415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098817]
AlphaFold Q8CHS8
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
Abcc5 A T 16: 20,241,107 (GRCm39) V26E probably benign Het
Adcy4 T A 14: 56,011,120 (GRCm39) probably null Het
Adgrl3 C T 5: 81,841,421 (GRCm39) T766I possibly damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Atp8b4 A T 2: 126,216,453 (GRCm39) S664R probably benign Het
Cand1 A C 10: 119,046,841 (GRCm39) I883S possibly damaging Het
Cfap53 A G 18: 74,432,367 (GRCm39) D85G probably benign Het
Chd4 G A 6: 125,081,909 (GRCm39) R514Q possibly damaging Het
Cnst T C 1: 179,452,557 (GRCm39) probably benign Het
Col6a6 T C 9: 105,661,453 (GRCm39) probably benign Het
Cux2 A C 5: 122,007,168 (GRCm39) L831R probably null Het
Elf2 T A 3: 51,215,467 (GRCm39) probably benign Het
Frey1 T A 2: 92,213,563 (GRCm39) S39T probably benign Het
Glp1r A G 17: 31,138,443 (GRCm39) probably benign Het
Hus1b A G 13: 31,131,527 (GRCm39) M44T probably benign Het
Mbd6 A G 10: 127,119,988 (GRCm39) probably benign Het
Med31 T A 11: 72,102,905 (GRCm39) probably null Het
Mmrn1 C T 6: 60,952,894 (GRCm39) Q392* probably null Het
Mrpl3 T G 9: 104,934,240 (GRCm39) V121G probably damaging Het
Or10am5 A G 7: 6,517,577 (GRCm39) S284P probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Palld A G 8: 61,968,969 (GRCm39) V879A possibly damaging Het
Pkn2 G T 3: 142,559,386 (GRCm39) D46E probably damaging Het
Prkdc T A 16: 15,557,428 (GRCm39) C2244S probably damaging Het
Prss50 T A 9: 110,691,474 (GRCm39) H259Q possibly damaging Het
Rab8b C T 9: 66,761,969 (GRCm39) W102* probably null Het
Rad54l2 A T 9: 106,587,638 (GRCm39) L709Q possibly damaging Het
Rapgef1 T C 2: 29,592,535 (GRCm39) V471A probably benign Het
Rbms3 A G 9: 116,939,183 (GRCm39) S27P probably damaging Het
Rpl35a A G 16: 32,879,101 (GRCm39) K73E possibly damaging Het
Sugct A T 13: 17,032,503 (GRCm39) Y416* probably null Het
Top2b A G 14: 16,407,354 (GRCm38) I713V probably benign Het
Unc79 A T 12: 103,054,766 (GRCm39) R777S possibly damaging Het
Zfp944 G A 17: 22,558,765 (GRCm39) L161F probably benign Het
Other mutations in Vps37a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Vps37a APN 8 40,993,771 (GRCm39) missense probably damaging 0.99
PIT4377001:Vps37a UTSW 8 40,990,087 (GRCm39) missense possibly damaging 0.71
R0090:Vps37a UTSW 8 40,980,030 (GRCm39) missense possibly damaging 0.92
R1106:Vps37a UTSW 8 40,965,247 (GRCm39) missense probably damaging 1.00
R1815:Vps37a UTSW 8 40,965,162 (GRCm39) missense probably benign
R3612:Vps37a UTSW 8 40,997,977 (GRCm39) splice site probably benign
R5775:Vps37a UTSW 8 40,982,160 (GRCm39) missense probably damaging 1.00
R5948:Vps37a UTSW 8 40,993,752 (GRCm39) missense possibly damaging 0.64
R6048:Vps37a UTSW 8 40,981,363 (GRCm39) missense probably damaging 1.00
R6337:Vps37a UTSW 8 40,993,749 (GRCm39) missense probably benign 0.10
R6715:Vps37a UTSW 8 40,993,902 (GRCm39) splice site probably null
Posted On 2013-04-17