Incidental Mutation 'R6715:Vps37a'
ID 529291
Institutional Source Beutler Lab
Gene Symbol Vps37a
Ensembl Gene ENSMUSG00000031600
Gene Name vacuolar protein sorting 37A
Synonyms 4930592A21Rik, D8Ertd531e, 2210018P21Rik
MMRRC Submission 044833-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R6715 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 40964824-41003798 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 40993902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098817]
AlphaFold Q8CHS8
Predicted Effect probably null
Transcript: ENSMUST00000098817
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency 100% (35/35)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 G A 12: 88,425,850 (GRCm39) R426H probably damaging Het
Arl2 G A 19: 6,187,555 (GRCm39) R98C probably damaging Het
Atm A G 9: 53,442,948 (GRCm39) I105T probably damaging Het
Cnnm2 G A 19: 46,842,412 (GRCm39) G565E probably damaging Het
Ddx60 G A 8: 62,436,924 (GRCm39) G958D probably benign Het
Fbxo2 T A 4: 148,250,226 (GRCm39) M252K probably benign Het
Filip1 C A 9: 79,726,040 (GRCm39) A860S probably benign Het
Gm11992 C A 11: 9,011,214 (GRCm39) S218R probably damaging Het
Gnb3 A G 6: 124,814,691 (GRCm39) L69P possibly damaging Het
Gpr18 T G 14: 122,149,389 (GRCm39) H212P possibly damaging Het
Iqcb1 T C 16: 36,655,991 (GRCm39) F126S probably damaging Het
Katnip C T 7: 125,361,001 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 192,019,949 (GRCm39) D425G probably benign Het
Kdm5b T A 1: 134,536,799 (GRCm39) probably null Het
Mcm3ap C T 10: 76,325,366 (GRCm39) T989M possibly damaging Het
Mtor T C 4: 148,623,004 (GRCm39) C1999R probably benign Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myof A T 19: 37,956,794 (GRCm39) D508E probably benign Het
Or52b2 A T 7: 104,986,539 (GRCm39) I128N probably damaging Het
Or56b2j G A 7: 104,353,163 (GRCm39) V130M possibly damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Osbpl7 A G 11: 96,945,425 (GRCm39) H266R probably damaging Het
Pear1 T C 3: 87,666,424 (GRCm39) Y93C probably damaging Het
Pgr A G 9: 8,965,000 (GRCm39) H881R possibly damaging Het
Rfx1 A G 8: 84,822,444 (GRCm39) E914G possibly damaging Het
Samm50 T C 15: 84,095,259 (GRCm39) I415T probably benign Het
Snx7 T C 3: 117,575,985 (GRCm39) D434G possibly damaging Het
Susd4 G A 1: 182,719,602 (GRCm39) V406M probably benign Het
Syt15 G T 14: 33,944,819 (GRCm39) G122V probably damaging Het
Tlr5 A G 1: 182,800,224 (GRCm39) probably benign Het
Ttc6 T C 12: 57,721,556 (GRCm39) probably null Het
Vmn1r211 C A 13: 23,035,949 (GRCm39) M239I probably benign Het
Other mutations in Vps37a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Vps37a APN 8 40,993,779 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- ACAGCTCACAGATATGAATGAACAG -3'
(R):5'- ACTGAGTTCATGTTGCCTTTGC -3'

Sequencing Primer
(F):5'- GGAGGAGGTATTACTAGAACAGTTTC -3'
(R):5'- CTTTGCATCTTCTTTTCAAAGGTAG -3'
Posted On 2018-07-24