Incidental Mutation 'IGL01963:Vps37a'
ID 182467
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 # IGL01963
Quality Score
Status
Chromosome 8
Chromosomal Location 40964824-41003798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40993771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 255 (Q255H)
Ref Sequence ENSEMBL: ENSMUSP00000096415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098817]
AlphaFold Q8CHS8
Predicted Effect probably damaging
Transcript: ENSMUST00000098817
AA Change: Q255H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600
AA Change: Q255H

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 (GRCm38) G130D probably damaging Het
Abca8b T A 11: 109,862,589 (GRCm39) D392V probably damaging Het
Cep43 A T 17: 8,411,109 (GRCm39) D354V probably damaging Het
Clptm1l T A 13: 73,765,688 (GRCm39) probably benign Het
Creb3l1 G A 2: 91,823,678 (GRCm39) T178I probably benign Het
Ctsd A G 7: 141,930,336 (GRCm39) probably null Het
Dcstamp A T 15: 39,623,755 (GRCm39) I401F possibly damaging Het
Dnah5 A G 15: 28,370,682 (GRCm39) D2874G probably benign Het
Fcsk A G 8: 111,620,034 (GRCm39) F281S probably damaging Het
Fli1 T A 9: 32,335,503 (GRCm39) K310* probably null Het
Fndc4 C T 5: 31,452,556 (GRCm39) probably null Het
Gc G A 5: 89,569,981 (GRCm39) probably benign Het
Krtap26-1 A G 16: 88,444,556 (GRCm39) C22R probably damaging Het
Obscn C T 11: 58,911,367 (GRCm39) G6422S probably benign Het
Or10d5 C A 9: 39,861,536 (GRCm39) C177F probably damaging Het
Or10j2 T A 1: 173,097,919 (GRCm39) M59K probably damaging Het
Or5b21 T A 19: 12,839,746 (GRCm39) F202L probably benign Het
Pgr C T 9: 8,922,669 (GRCm39) P613L probably damaging Het
Pnpla8 C A 12: 44,342,816 (GRCm39) A524E possibly damaging Het
Psma2 A T 13: 14,793,948 (GRCm39) I105F probably damaging Het
Ptprg A G 14: 12,220,661 (GRCm38) R458G probably damaging Het
Rbm44 A G 1: 91,090,830 (GRCm39) I755V probably benign Het
Rev3l A G 10: 39,698,733 (GRCm39) K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 (GRCm39) probably benign Het
Sel1l3 A C 5: 53,357,680 (GRCm39) V104G probably damaging Het
Sirpb1c T C 3: 15,892,937 (GRCm39) N89S probably benign Het
Slc25a16 G A 10: 62,766,220 (GRCm39) probably null Het
Sulf1 C T 1: 12,888,731 (GRCm39) R339C probably damaging Het
Tedc2 C T 17: 24,436,926 (GRCm39) A270T probably benign Het
Trem3 T C 17: 48,554,880 (GRCm39) S2P possibly damaging Het
Zfp352 C T 4: 90,112,391 (GRCm39) A177V possibly damaging Het
Other mutations in Vps37a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Vps37a APN 8 40,993,779 (GRCm39) missense probably benign 0.00
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 2014-05-07