Incidental Mutation 'IGL02028:Ribc2'
ID184278
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: 0.070) question?
Stock #IGL02028
Quality Score
Status
Chromosome15
Chromosomal Location85132078-85144570 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85143335 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 339 (D339G)
Ref Sequence ENSEMBL: ENSMUSP00000023067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023067] [ENSMUST00000229238]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023067
AA Change: D339G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: D339G

DomainStartEndE-ValueType
Pfam:RIB43A 3 377 9.7e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229238
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 Y53C probably damaging Het
Acacb T A 5: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 Q155R probably damaging Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Morc2b T A 17: 33,137,413 I462F possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr1289 T C 2: 111,483,471 F14L probably benign Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Ribc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02816:Ribc2 APN 15 85132905 missense probably damaging 0.99
IGL02830:Ribc2 APN 15 85132257 utr 5 prime probably benign
IGL03336:Ribc2 APN 15 85132913 nonsense probably null
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 On2014-05-07