Incidental Mutation 'R5775:Vps37a'
ID 448729
Institutional Source Beutler Lab
Gene Symbol Vps37a
Ensembl Gene ENSMUSG00000031600
Gene Name vacuolar protein sorting 37A
Synonyms 4930592A21Rik, D8Ertd531e, 2210018P21Rik
MMRRC Submission 043374-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.342) question?
Stock # R5775 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 40964824-41003798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40982160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 109 (H109R)
Ref Sequence ENSEMBL: ENSMUSP00000096415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098817]
AlphaFold Q8CHS8
Predicted Effect probably damaging
Transcript: ENSMUST00000098817
AA Change: H109R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096415
Gene: ENSMUSG00000031600
AA Change: H109R

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 0.4288 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,509,886 (GRCm39) D753G possibly damaging Het
Arpc2 T A 1: 74,295,108 (GRCm39) probably null Het
Atxn2 C T 5: 121,951,512 (GRCm39) T619M probably damaging Het
Cacna1s T C 1: 136,035,860 (GRCm39) Y1120H probably damaging Het
Calm5 T C 13: 3,904,435 (GRCm39) L20S probably damaging Het
Carmil1 T C 13: 24,460,520 (GRCm39) I20V probably benign Het
Cd177 T C 7: 24,451,693 (GRCm39) E441G probably damaging Het
Cd63 T A 10: 128,746,299 (GRCm39) C9S probably damaging Het
Cep250 A C 2: 155,811,294 (GRCm39) D380A possibly damaging Het
Col5a3 G T 9: 20,712,368 (GRCm39) P509Q unknown Het
Cyp11b2 A G 15: 74,725,327 (GRCm39) V264A probably benign Het
Dennd6a T A 14: 26,340,528 (GRCm39) L214* probably null Het
Dna2 A G 10: 62,785,021 (GRCm39) N46S possibly damaging Het
Elovl1 G A 4: 118,288,094 (GRCm39) V77I probably benign Het
Eml1 A T 12: 108,472,813 (GRCm39) Y207F probably damaging Het
Epha6 C T 16: 59,639,357 (GRCm39) R839Q possibly damaging Het
Erlec1 A T 11: 30,893,848 (GRCm39) S105T probably benign Het
Esp3 T A 17: 40,944,468 (GRCm39) S37T possibly damaging Het
Foxh1 G A 15: 76,554,049 (GRCm39) A8V probably benign Het
Fut1 A C 7: 45,268,886 (GRCm39) D280A probably damaging Het
Gm13998 G T 2: 119,708,892 (GRCm39) noncoding transcript Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
H2az1 T C 3: 137,571,380 (GRCm39) Y61H probably damaging Het
Kcns1 T C 2: 164,006,686 (GRCm39) I426V probably damaging Het
Kdm4c T G 4: 74,277,668 (GRCm39) V774G probably damaging Het
Mrc2 G A 11: 105,228,639 (GRCm39) V673I probably benign Het
Mtnr1b G A 9: 15,774,168 (GRCm39) A297V possibly damaging Het
Or5d43 A T 2: 88,105,045 (GRCm39) M116K probably damaging Het
Or8b40 A T 9: 38,027,423 (GRCm39) E110D probably damaging Het
Osbpl5 A T 7: 143,258,266 (GRCm39) V346D probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pigo T C 4: 43,023,475 (GRCm39) D233G probably damaging Het
Pmm1 A T 15: 81,836,156 (GRCm39) I152N probably benign Het
Pot1a A T 6: 25,757,297 (GRCm39) probably null Het
Ppp1r12b G T 1: 134,803,780 (GRCm39) L460I probably benign Het
Prrc2a T C 17: 35,377,463 (GRCm39) D565G unknown Het
Psd C A 19: 46,303,211 (GRCm39) E724* probably null Het
Rasa2 C T 9: 96,459,521 (GRCm39) probably null Het
Rsbn1 A T 3: 103,869,888 (GRCm39) Q783L possibly damaging Het
Ryr2 T C 13: 11,784,848 (GRCm39) Y1035C probably damaging Het
Sec24d C T 3: 123,084,109 (GRCm39) A96V probably benign Het
Sec61a2 A T 2: 5,887,585 (GRCm39) probably null Het
Sec62 A G 3: 30,847,436 (GRCm39) probably benign Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tmem132b T A 5: 125,715,394 (GRCm39) probably null Het
Tnip3 A G 6: 65,591,741 (GRCm39) S247G probably benign Het
Traf3 A G 12: 111,219,162 (GRCm39) K263R possibly damaging Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Unc5c A G 3: 141,534,281 (GRCm39) E860G probably damaging Het
Usp44 A G 10: 93,681,840 (GRCm39) S97G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Wfikkn2 G T 11: 94,129,114 (GRCm39) D342E probably benign Het
Zfp354b A T 11: 50,813,647 (GRCm39) F426Y probably benign Het
Zfp462 C A 4: 55,010,590 (GRCm39) T852N probably damaging Het
Zfp987 T G 4: 146,061,505 (GRCm39) S312R 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
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
Predicted Primers PCR Primer
(F):5'- GTCATGTTGACACAGTGCTCTTG -3'
(R):5'- GGGCATGAAGGTGAGATCTC -3'

Sequencing Primer
(F):5'- CACTTATGAATGTGAGCTGCC -3'
(R):5'- GCATGAAGGTGAGATCTCATTTAAAC -3'
Posted On 2016-12-15