Incidental Mutation 'IGL03336:Ribc2'
ID417033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ribc2
Ensembl Gene ENSMUSG00000022431
Gene NameRIB43A domain with coiled-coils 2
SynonymsTrib, 4930579A10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL03336
Quality Score
Status
Chromosome15
Chromosomal Location85132078-85144570 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 85132913 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 51 (Q51*)
Ref Sequence ENSEMBL: ENSMUSP00000154931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023067] [ENSMUST00000023068] [ENSMUST00000229238]
Predicted Effect probably null
Transcript: ENSMUST00000023067
AA Change: Q51*
SMART Domains Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: Q51*

DomainStartEndE-ValueType
Pfam:RIB43A 3 377 9.7e-147 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000023068
SMART Domains Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432

DomainStartEndE-ValueType
Pfam:AAA_23 7 361 2e-10 PFAM
Pfam:AAA_21 27 372 7.2e-9 PFAM
low complexity region 422 437 N/A INTRINSIC
SMC_hinge 513 629 1.5e-23 SMART
PDB:1W1W|D 1046 1218 3e-42 PDB
Blast:AAA 1063 1217 5e-25 BLAST
SCOP:d1e69a_ 1114 1202 3e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000229238
AA Change: Q51*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pcyt2 T C 11: 120,615,932 D32G probably damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Ribc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02028:Ribc2 APN 15 85143335 missense possibly damaging 0.95
IGL02816:Ribc2 APN 15 85132905 missense probably damaging 0.99
IGL02830:Ribc2 APN 15 85132257 utr 5 prime probably benign
IGL03350:Ribc2 APN 15 85135502 missense probably damaging 1.00
R0583:Ribc2 UTSW 15 85132914 splice site probably null
R3685:Ribc2 UTSW 15 85135334 missense possibly damaging 0.89
R3943:Ribc2 UTSW 15 85135250 missense probably benign 0.00
R3944:Ribc2 UTSW 15 85135250 missense probably benign 0.00
R4758:Ribc2 UTSW 15 85141666 missense probably damaging 1.00
R7234:Ribc2 UTSW 15 85135532 missense probably benign 0.00
R7472:Ribc2 UTSW 15 85135245 missense probably benign 0.33
R7567:Ribc2 UTSW 15 85143247 missense probably damaging 0.98
R7653:Ribc2 UTSW 15 85141675 missense probably benign 0.36
R8370:Ribc2 UTSW 15 85143288 missense probably benign 0.00
R8443:Ribc2 UTSW 15 85135260 missense probably benign 0.00
Posted On2016-08-02