Incidental Mutation 'IGL01331:Ribc1'
ID 74503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ribc1
Ensembl Gene ENSMUSG00000025257
Gene Name RIB43A domain with coiled-coils 1
Synonyms W08639, 2610028I09Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01331
Quality Score
Status
Chromosome X
Chromosomal Location 150787578-150799291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150788102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 291 (T291A)
Ref Sequence ENSEMBL: ENSMUSP00000026288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026288] [ENSMUST00000026289] [ENSMUST00000112617]
AlphaFold Q9D0B8
Predicted Effect probably benign
Transcript: ENSMUST00000026288
AA Change: T291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026288
Gene: ENSMUSG00000025257
AA Change: T291A

DomainStartEndE-ValueType
Pfam:RIB43A 4 379 1.6e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026289
SMART Domains Protein: ENSMUSP00000026289
Gene: ENSMUSG00000025260

DomainStartEndE-ValueType
Pfam:adh_short 11 187 4.3e-31 PFAM
Pfam:KR 12 202 5.7e-14 PFAM
Pfam:adh_short_C2 17 257 2.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112617
SMART Domains Protein: ENSMUSP00000108236
Gene: ENSMUSG00000025260

DomainStartEndE-ValueType
Pfam:adh_short 11 197 6.7e-26 PFAM
Pfam:KR 12 212 5.8e-9 PFAM
Pfam:adh_short_C2 17 267 3.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151200
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,453,273 (GRCm39) T517M probably damaging Het
Clec4g T C 8: 3,767,190 (GRCm39) probably benign Het
Cmya5 C T 13: 93,233,454 (GRCm39) E545K possibly damaging Het
Cntn6 A T 6: 104,751,484 (GRCm39) D380V probably damaging Het
Col9a2 C T 4: 120,902,389 (GRCm39) P209S possibly damaging Het
Cyp2b9 T C 7: 25,887,140 (GRCm39) V183A probably damaging Het
Dpt T C 1: 164,624,379 (GRCm39) Y27H unknown Het
Dusp16 T C 6: 134,695,067 (GRCm39) Q588R possibly damaging Het
Emg1 A G 6: 124,682,033 (GRCm39) S164P probably benign Het
Foxk1 G A 5: 142,439,344 (GRCm39) R428Q probably damaging Het
Frmd4a T A 2: 4,607,036 (GRCm39) M667K probably benign Het
Gpr55 T A 1: 85,868,915 (GRCm39) probably benign Het
Gtpbp8 A G 16: 44,560,494 (GRCm39) I162T probably benign Het
Ighv1-59 C T 12: 115,298,992 (GRCm39) V21I possibly damaging Het
Ipo11 T A 13: 106,932,254 (GRCm39) Y938F possibly damaging Het
Map4 G T 9: 109,863,869 (GRCm39) V365L probably benign Het
Mboat1 C A 13: 30,403,684 (GRCm39) probably benign Het
Med12 A G X: 100,324,360 (GRCm39) E649G possibly damaging Het
Nfkbie T C 17: 45,869,495 (GRCm39) V150A probably benign Het
Or51ai2 A G 7: 103,586,782 (GRCm39) Y65C possibly damaging Het
Or8k22 A C 2: 86,163,048 (GRCm39) Y217* probably null Het
Prdm1 T A 10: 44,317,970 (GRCm39) K299N possibly damaging Het
Rps6kc1 G T 1: 190,532,549 (GRCm39) N484K possibly damaging Het
Serpina3k C A 12: 104,309,369 (GRCm39) A271D probably benign Het
Spata18 G T 5: 73,827,024 (GRCm39) R321L probably damaging Het
Styxl2 C A 1: 165,935,749 (GRCm39) V150L probably damaging Het
Syne2 C A 12: 75,976,027 (GRCm39) probably benign Het
Syt17 T A 7: 118,007,389 (GRCm39) I302F probably damaging Het
Tgm6 A G 2: 129,985,538 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,276 (GRCm39) Y323C probably damaging Het
Tnc T C 4: 63,901,112 (GRCm39) D1452G probably damaging Het
Ttn A G 2: 76,620,022 (GRCm39) I7555T probably damaging Het
Ugt2b36 A T 5: 87,238,801 (GRCm39) W131R probably damaging Het
Vmn2r75 A T 7: 85,820,870 (GRCm39) C21* probably null Het
Zfp592 T A 7: 80,691,296 (GRCm39) C1158* probably null Het
Other mutations in Ribc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0616:Ribc1 UTSW X 150,788,787 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07