Incidental Mutation 'IGL03401:Rimklb'
ID 421425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimklb
Ensembl Gene ENSMUSG00000040649
Gene Name ribosomal modification protein rimK-like family member B
Synonyms 4931417E21Rik, 4933426K21Rik, NAAGS
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03401
Quality Score
Status
Chromosome 6
Chromosomal Location 122424255-122464021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122441077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 32 (I32N)
Ref Sequence ENSEMBL: ENSMUSP00000144770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731] [ENSMUST00000205114]
AlphaFold Q80WS1
Predicted Effect probably damaging
Transcript: ENSMUST00000068242
AA Change: I89N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: I89N

DomainStartEndE-ValueType
low complexity region 71 83 N/A INTRINSIC
Pfam:ATP-grasp_4 111 283 7.4e-13 PFAM
Pfam:ATP-grasp_3 112 283 2.6e-9 PFAM
Pfam:RimK 112 303 6.9e-45 PFAM
Pfam:GSH-S_ATP 131 269 5e-14 PFAM
low complexity region 337 354 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143701
Predicted Effect probably damaging
Transcript: ENSMUST00000146274
AA Change: I32N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138104
Gene: ENSMUSG00000040649
AA Change: I32N

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
Pfam:ATP-grasp_4 54 225 6.7e-13 PFAM
Pfam:ATP-grasp_3 55 226 1.1e-9 PFAM
Pfam:RimK 55 242 6.7e-43 PFAM
Pfam:GSH-S_ATP 72 212 1.3e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204731
AA Change: I32N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: I32N

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
Pfam:ATP-grasp_4 54 226 5e-13 PFAM
Pfam:ATP-grasp_3 55 226 1.7e-9 PFAM
Pfam:RimK 55 246 4.5e-45 PFAM
Pfam:GSH-S_ATP 74 212 3.6e-14 PFAM
low complexity region 280 297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205114
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,223 (GRCm39) R581* probably null Het
Actn1 A T 12: 80,215,741 (GRCm39) L799* probably null Het
Adam12 A T 7: 133,518,192 (GRCm39) N327K probably damaging Het
Adamts9 A G 6: 92,763,849 (GRCm39) V1314A probably damaging Het
Agbl4 G T 4: 110,976,216 (GRCm39) R191L probably damaging Het
Ano6 T C 15: 95,847,786 (GRCm39) I611T probably damaging Het
Arhgef26 T A 3: 62,330,953 (GRCm39) S556T possibly damaging Het
AW209491 A G 13: 14,812,041 (GRCm39) D298G probably benign Het
Cc2d1a A G 8: 84,861,258 (GRCm39) M763T probably benign Het
Cep290 A G 10: 100,336,127 (GRCm39) D388G probably benign Het
Cept1 T C 3: 106,440,706 (GRCm39) E151G probably damaging Het
Chat T C 14: 32,174,526 (GRCm39) K139E probably damaging Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Enpep T A 3: 129,106,269 (GRCm39) Q319L probably benign Het
F13a1 A G 13: 37,082,054 (GRCm39) I550T probably benign Het
Fbxw19 A G 9: 109,324,038 (GRCm39) probably null Het
Frem3 T G 8: 81,341,170 (GRCm39) D1154E probably damaging Het
Frmpd1 G T 4: 45,284,383 (GRCm39) C1068F probably benign Het
Fsip2 C A 2: 82,820,814 (GRCm39) P5516T probably benign Het
Hyou1 G A 9: 44,296,206 (GRCm39) A429T probably damaging Het
Lrp1b C T 2: 41,000,790 (GRCm39) E2145K probably benign Het
Map1b A T 13: 99,563,776 (GRCm39) V2397D unknown Het
Mcm3ap T C 10: 76,320,483 (GRCm39) probably benign Het
Mgst2 T G 3: 51,571,933 (GRCm39) S20R possibly damaging Het
Nr4a3 T A 4: 48,070,987 (GRCm39) probably null Het
Nup93 T A 8: 95,036,339 (GRCm39) probably null Het
Or1e1f T C 11: 73,856,388 (GRCm39) probably benign Het
Papola A T 12: 105,795,381 (GRCm39) T611S probably benign Het
Pik3ca C A 3: 32,491,963 (GRCm39) probably null Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Prl7b1 A G 13: 27,785,964 (GRCm39) Y235H probably benign Het
Proc T C 18: 32,256,326 (GRCm39) Y447C possibly damaging Het
Pum1 T C 4: 130,470,992 (GRCm39) probably benign Het
Rrm1 T A 7: 102,114,951 (GRCm39) D644E possibly damaging Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Shbg A G 11: 69,505,925 (GRCm39) S361P probably damaging Het
Trmt9b A C 8: 36,972,823 (GRCm39) D91A probably damaging Het
Zfp647 T A 15: 76,795,568 (GRCm39) H364L probably damaging Het
Zfp715 A T 7: 42,949,160 (GRCm39) S267T probably benign Het
Other mutations in Rimklb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Rimklb APN 6 122,433,590 (GRCm39) missense possibly damaging 0.58
IGL01674:Rimklb APN 6 122,436,129 (GRCm39) missense probably damaging 0.98
IGL03390:Rimklb APN 6 122,433,280 (GRCm39) missense possibly damaging 0.71
R0234:Rimklb UTSW 6 122,433,292 (GRCm39) missense probably benign 0.00
R0234:Rimklb UTSW 6 122,433,292 (GRCm39) missense probably benign 0.00
R0479:Rimklb UTSW 6 122,441,175 (GRCm39) splice site probably benign
R0488:Rimklb UTSW 6 122,437,934 (GRCm39) missense probably benign 0.13
R1843:Rimklb UTSW 6 122,440,968 (GRCm39) missense probably damaging 1.00
R2887:Rimklb UTSW 6 122,449,657 (GRCm39) missense probably benign
R4674:Rimklb UTSW 6 122,433,242 (GRCm39) nonsense probably null
R4746:Rimklb UTSW 6 122,449,591 (GRCm39) nonsense probably null
R4755:Rimklb UTSW 6 122,433,365 (GRCm39) missense probably damaging 1.00
R4888:Rimklb UTSW 6 122,441,051 (GRCm39) splice site probably null
R6174:Rimklb UTSW 6 122,433,371 (GRCm39) missense probably damaging 0.99
R7041:Rimklb UTSW 6 122,436,176 (GRCm39) nonsense probably null
R7170:Rimklb UTSW 6 122,429,697 (GRCm39) missense probably benign
R9638:Rimklb UTSW 6 122,433,558 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02