Incidental Mutation 'IGL03390:Rimklb'
ID 421037
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 # IGL03390
Quality Score
Status
Chromosome 6
Chromosomal Location 122424255-122464021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122433280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 347 (S347N)
Ref Sequence ENSEMBL: ENSMUSP00000064467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731]
AlphaFold Q80WS1
Predicted Effect possibly damaging
Transcript: ENSMUST00000068242
AA Change: S347N

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: S347N

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: ENSMUST00000119780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143701
Predicted Effect probably benign
Transcript: ENSMUST00000146274
SMART Domains Protein: ENSMUSP00000138104
Gene: ENSMUSG00000040649

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 possibly damaging
Transcript: ENSMUST00000204731
AA Change: S290N

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: S290N

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 125,566,564 (GRCm39) probably benign Het
Ccdc18 A G 5: 108,359,997 (GRCm39) Y1127C probably damaging Het
Cdnf T A 2: 3,524,863 (GRCm39) L134* probably null Het
Col11a1 A G 3: 113,883,902 (GRCm39) D257G unknown Het
Cthrc1 T A 15: 38,940,529 (GRCm39) I44N probably benign Het
Dlec1 T C 9: 118,952,288 (GRCm39) Y545H probably benign Het
Drosha T G 15: 12,885,069 (GRCm39) probably null Het
Ebf2 A G 14: 67,661,558 (GRCm39) N562S probably benign Het
Fem1b G A 9: 62,704,246 (GRCm39) A338V probably benign Het
Gga3 A T 11: 115,477,820 (GRCm39) probably null Het
Gm7247 A T 14: 51,760,914 (GRCm39) H161L probably benign Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Inpp5a T G 7: 139,105,664 (GRCm39) V213G probably benign Het
Kcns3 T C 12: 11,141,233 (GRCm39) T489A probably benign Het
Kifc3 G A 8: 95,835,241 (GRCm39) A211V probably damaging Het
Krt71 T C 15: 101,642,987 (GRCm39) D507G possibly damaging Het
Lama5 T C 2: 179,849,011 (GRCm39) Y224C probably damaging Het
Lrrc37a A G 11: 103,386,857 (GRCm39) L2421P unknown Het
Mtch2 C T 2: 90,689,894 (GRCm39) T205I probably benign Het
Or1o11 T C 17: 37,757,255 (GRCm39) V281A probably benign Het
Prkdc T A 16: 15,488,490 (GRCm39) C537* probably null Het
Prl2a1 T C 13: 27,985,699 (GRCm39) V5A probably benign Het
Prob1 T C 18: 35,787,192 (GRCm39) Y354C probably benign Het
Rnase2a T C 14: 51,492,945 (GRCm39) D140G probably damaging Het
Ryr2 G A 13: 11,787,302 (GRCm39) P1017S probably benign Het
Slc3a1 A G 17: 85,340,205 (GRCm39) D209G probably damaging Het
Sntn T A 14: 13,682,205 (GRCm38) probably benign Het
Tal2 G T 4: 53,785,994 (GRCm39) L58F probably damaging Het
Trim39 T C 17: 36,571,463 (GRCm39) K432E probably damaging Het
Trmt5 A T 12: 73,329,501 (GRCm39) M219K probably benign Het
Vmn2r3 T A 3: 64,182,767 (GRCm39) I311L possibly damaging Het
Wfdc17 A T 11: 83,595,611 (GRCm39) probably benign Het
Zbtb6 T G 2: 37,319,584 (GRCm39) I115L probably damaging Het
Zfp750 A T 11: 121,402,770 (GRCm39) C659* probably null 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
IGL03401:Rimklb APN 6 122,441,077 (GRCm39) missense probably damaging 1.00
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