Incidental Mutation 'IGL01458:Vps37c'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps37c
Ensembl Gene ENSMUSG00000048832
Gene Namevacuolar protein sorting 37C
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01458
Quality Score
Chromosomal Location10688815-10714419 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 10710417 bp
Amino Acid Change Cysteine to Arginine at position 81 (C81R)
Ref Sequence ENSEMBL: ENSMUSP00000085264 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087951]
Predicted Effect probably damaging
Transcript: ENSMUST00000087951
AA Change: C81R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085264
Gene: ENSMUSG00000048832
AA Change: C81R

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
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Bloc1s6 T A 2: 122,744,215 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Csn2 T C 5: 87,696,020 probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Fzd4 G A 7: 89,404,735 V17I unknown Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1118 C T 2: 87,309,482 T251I probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr389 A T 11: 73,776,706 I207N probably benign Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Vps37c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0433:Vps37c UTSW 19 10713029 missense probably benign
R2348:Vps37c UTSW 19 10706300 missense probably damaging 1.00
R2483:Vps37c UTSW 19 10706205 splice site probably null
R3623:Vps37c UTSW 19 10706205 splice site probably null
R3714:Vps37c UTSW 19 10706268 missense probably damaging 1.00
R4650:Vps37c UTSW 19 10712909 missense probably benign 0.31
R4684:Vps37c UTSW 19 10712768 missense probably benign
R7000:Vps37c UTSW 19 10710329 missense probably damaging 1.00
R7026:Vps37c UTSW 19 10706268 missense probably damaging 1.00
R7779:Vps37c UTSW 19 10712624 missense probably damaging 1.00
R8406:Vps37c UTSW 19 10710355 missense probably damaging 1.00
Posted On2013-11-11