Incidental Mutation 'R3714:Vps37c'
ID 259827
Institutional Source Beutler Lab
Gene Symbol Vps37c
Ensembl Gene ENSMUSG00000048832
Gene Name vacuolar protein sorting 37C
Synonyms 5730409F24Rik
MMRRC Submission 040707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3714 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10666099-10691991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10683632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 18 (D18G)
Ref Sequence ENSEMBL: ENSMUSP00000085264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087951]
AlphaFold Q8R105
Predicted Effect probably damaging
Transcript: ENSMUST00000087951
AA Change: D18G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000085264
Gene: ENSMUSG00000048832
AA Change: D18G

DomainStartEndE-ValueType
Pfam:Mod_r 5 150 2.4e-39 PFAM
low complexity region 171 216 N/A INTRINSIC
low complexity region 233 250 N/A INTRINSIC
low complexity region 310 338 N/A INTRINSIC
Meta Mutation Damage Score 0.3529 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies (Eastman et al., 2005 [PubMed 15509564]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adck5 G A 15: 76,478,138 (GRCm39) V229I probably damaging Het
Afg2a G A 3: 37,487,358 (GRCm39) V407I probably benign Het
Ankk1 T G 9: 49,333,013 (GRCm39) D157A possibly damaging Het
Atp1a2 A G 1: 172,106,551 (GRCm39) I817T probably damaging Het
Ccdc87 A G 19: 4,890,287 (GRCm39) S260G probably benign Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Cibar2 C T 8: 120,901,576 (GRCm39) R43H probably damaging Het
Cntnap5c C T 17: 58,199,062 (GRCm39) Q119* probably null Het
Cpb2 T A 14: 75,520,657 (GRCm39) probably null Het
Ddx47 T A 6: 134,996,025 (GRCm39) I329K probably damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Fcsk G T 8: 111,613,891 (GRCm39) D723E probably damaging Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Garem1 T A 18: 21,281,947 (GRCm39) E136D probably damaging Het
Haus6 A G 4: 86,521,104 (GRCm39) I178T probably benign Het
Igkv3-2 T G 6: 70,675,480 (GRCm39) V10G possibly damaging Het
Jrkl A C 9: 13,244,236 (GRCm39) I475R possibly damaging Het
Lcmt1 C T 7: 123,003,683 (GRCm39) H146Y probably damaging Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Mb A G 15: 76,901,789 (GRCm39) V102A probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Mroh2b A G 15: 4,973,131 (GRCm39) I1045V probably benign Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndufs7 T C 10: 80,088,255 (GRCm39) I14T probably benign Het
Nlrp4b T C 7: 10,448,808 (GRCm39) V337A probably benign Het
Npm2 T C 14: 70,890,060 (GRCm39) probably null Het
Or10ab4 T C 7: 107,654,642 (GRCm39) F151S probably damaging Het
Or2h2c A G 17: 37,422,227 (GRCm39) Y216H probably damaging Het
Or4a68 G A 2: 89,269,727 (GRCm39) L299F probably damaging Het
Prdm9 T A 17: 15,777,623 (GRCm39) K154* probably null Het
Prkch C T 12: 73,822,290 (GRCm39) P630S probably damaging Het
Ptprn T C 1: 75,229,411 (GRCm39) probably null Het
Rnf31 T A 14: 55,840,851 (GRCm39) D884E probably damaging Het
Semp2l2a T G 8: 13,886,736 (GRCm39) I452L probably benign Het
Slc22a27 A T 19: 7,903,815 (GRCm39) N107K possibly damaging Het
Tln1 G T 4: 43,540,597 (GRCm39) A1468D probably damaging Het
Tmem185b T A 1: 119,454,781 (GRCm39) F181I possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trappc11 T C 8: 47,958,351 (GRCm39) probably benign Het
Vmn1r218 A T 13: 23,321,081 (GRCm39) N63Y probably damaging Het
Other mutations in Vps37c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Vps37c APN 19 10,687,781 (GRCm39) missense probably damaging 0.99
R0433:Vps37c UTSW 19 10,690,393 (GRCm39) missense probably benign
R2348:Vps37c UTSW 19 10,683,664 (GRCm39) missense probably damaging 1.00
R2483:Vps37c UTSW 19 10,683,569 (GRCm39) splice site probably null
R3623:Vps37c UTSW 19 10,683,569 (GRCm39) splice site probably null
R4650:Vps37c UTSW 19 10,690,273 (GRCm39) missense probably benign 0.31
R4684:Vps37c UTSW 19 10,690,132 (GRCm39) missense probably benign
R7000:Vps37c UTSW 19 10,687,693 (GRCm39) missense probably damaging 1.00
R7026:Vps37c UTSW 19 10,683,632 (GRCm39) missense probably damaging 1.00
R7779:Vps37c UTSW 19 10,689,988 (GRCm39) missense probably damaging 1.00
R8406:Vps37c UTSW 19 10,687,719 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCTGTGACTGCCAAGTAG -3'
(R):5'- ATGACCTCTCTGGGTTCCTG -3'

Sequencing Primer
(F):5'- CTGTGACTGCCAAGTAGTTTTACAG -3'
(R):5'- CCAGTGCACATTCATATATATGCC -3'
Posted On 2015-01-23