Incidental Mutation 'IGL03350:Ribc2'
ID419669
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: 0.087) question?
Stock #IGL03350
Quality Score
Status
Chromosome15
Chromosomal Location85132078-85144570 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85135502 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 162 (W162R)
Ref Sequence ENSEMBL: ENSMUSP00000154931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023067] [ENSMUST00000023068] [ENSMUST00000229238]
Predicted Effect probably damaging
Transcript: ENSMUST00000023067
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023067
Gene: ENSMUSG00000022431
AA Change: W162R

DomainStartEndE-ValueType
Pfam:RIB43A 3 377 9.7e-147 PFAM
Predicted Effect probably benign
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 damaging
Transcript: ENSMUST00000229238
AA Change: W162R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign 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
IGL03336:Ribc2 APN 15 85132913 nonsense probably null
R0583:Ribc2 UTSW 15 85132914 unclassified 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
Posted On2016-08-02