Incidental Mutation 'IGL01527:Rimoc1'
ID 89619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimoc1
Ensembl Gene ENSMUSG00000041935
Gene Name RAB7A interacting MON1-CCZ1 complex subunit 1
Synonyms AW549877
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01527
Quality Score
Status
Chromosome 15
Chromosomal Location 4011517-4025226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4018165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 170 (Y170C)
Ref Sequence ENSEMBL: ENSMUSP00000038476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046633]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046633
AA Change: Y170C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038476
Gene: ENSMUSG00000041935
AA Change: Y170C

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228421
Meta Mutation Damage Score 0.6254 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik G T 17: 35,878,730 (GRCm39) probably null Het
Abca13 T A 11: 9,240,788 (GRCm39) W884R possibly damaging Het
Ahi1 T C 10: 20,835,984 (GRCm39) probably benign Het
Ankfn1 G T 11: 89,282,465 (GRCm39) P394Q probably benign Het
Cacnb2 T C 2: 14,989,081 (GRCm39) I393T possibly damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Col22a1 T C 15: 71,778,880 (GRCm39) E269G probably damaging Het
Cyp24a1 A G 2: 170,338,486 (GRCm39) L70P probably damaging Het
Cyp8b1 T C 9: 121,744,061 (GRCm39) K424E probably damaging Het
Dicer1 G A 12: 104,657,869 (GRCm39) Q1902* probably null Het
Dst T A 1: 34,286,734 (GRCm39) L544Q probably damaging Het
Esrp2 T C 8: 106,858,865 (GRCm39) T591A probably benign Het
Gap43 C T 16: 42,112,516 (GRCm39) E82K probably benign Het
Ift70a1 T C 2: 75,810,860 (GRCm39) I408V probably benign Het
Kif17 G A 4: 137,996,397 (GRCm39) V125I probably benign Het
Lancl2 T C 6: 57,709,307 (GRCm39) S370P probably damaging Het
Macf1 T C 4: 123,386,953 (GRCm39) I203V possibly damaging Het
Mphosph9 A G 5: 124,421,687 (GRCm39) probably benign Het
Ncapg A G 5: 45,829,726 (GRCm39) I143V possibly damaging Het
Nr3c1 A G 18: 39,619,690 (GRCm39) V199A probably benign Het
Obscn T A 11: 58,955,243 (GRCm39) N3890I possibly damaging Het
Or2g7 A G 17: 38,378,986 (GRCm39) N308S probably benign Het
Or2h2c A T 17: 37,422,701 (GRCm39) Y58N probably damaging Het
Or52n5 T A 7: 104,588,198 (GRCm39) V155E possibly damaging Het
Or8g32 A G 9: 39,305,114 (GRCm39) H6R probably benign Het
Palmd C A 3: 116,720,837 (GRCm39) E166* probably null Het
Pdzd2 T C 15: 12,445,750 (GRCm39) E327G probably damaging Het
Pex13 T C 11: 23,606,111 (GRCm39) T40A probably benign Het
Pkd2 T C 5: 104,646,750 (GRCm39) probably benign Het
Plb1 A G 5: 32,474,467 (GRCm39) T643A probably damaging Het
Prlr T A 15: 10,329,257 (GRCm39) D577E probably benign Het
Slc44a3 A G 3: 121,320,777 (GRCm39) C75R probably damaging Het
Susd6 A T 12: 80,921,093 (GRCm39) N230I possibly damaging Het
Tbx10 A G 19: 4,048,227 (GRCm39) R251G probably damaging Het
Uap1l1 A G 2: 25,253,816 (GRCm39) probably null Het
Ugt2b5 A G 5: 87,284,068 (GRCm39) V308A possibly damaging Het
Usp28 C A 9: 48,937,173 (GRCm39) H147Q probably benign Het
Vmn1r203 T C 13: 22,708,447 (GRCm39) I76T possibly damaging Het
Vmn2r104 A G 17: 20,263,158 (GRCm39) I101T possibly damaging Het
Vmn2r17 T A 5: 109,601,006 (GRCm39) L768H probably damaging Het
Other mutations in Rimoc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Rimoc1 APN 15 4,018,118 (GRCm39) missense probably damaging 1.00
IGL02170:Rimoc1 APN 15 4,015,848 (GRCm39) missense probably benign
IGL03188:Rimoc1 APN 15 4,018,187 (GRCm39) missense probably damaging 0.99
R0020:Rimoc1 UTSW 15 4,021,350 (GRCm39) splice site probably benign
R0020:Rimoc1 UTSW 15 4,021,350 (GRCm39) splice site probably benign
R0123:Rimoc1 UTSW 15 4,015,776 (GRCm39) missense probably damaging 0.98
R0134:Rimoc1 UTSW 15 4,015,776 (GRCm39) missense probably damaging 0.98
R0225:Rimoc1 UTSW 15 4,015,776 (GRCm39) missense probably damaging 0.98
R0631:Rimoc1 UTSW 15 4,015,971 (GRCm39) splice site probably benign
R1070:Rimoc1 UTSW 15 4,015,848 (GRCm39) missense probably benign 0.22
R4437:Rimoc1 UTSW 15 4,021,318 (GRCm39) missense probably damaging 1.00
R6186:Rimoc1 UTSW 15 4,015,851 (GRCm39) missense possibly damaging 0.67
R7663:Rimoc1 UTSW 15 4,018,165 (GRCm39) missense probably damaging 1.00
R8027:Rimoc1 UTSW 15 4,015,694 (GRCm39) missense probably benign 0.00
R9293:Rimoc1 UTSW 15 4,021,336 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03