Incidental Mutation 'IGL00898:Rimklb'
ID 27579
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 # IGL00898
Quality Score
Status
Chromosome 6
Chromosomal Location 122424255-122464021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 122433590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 187 (Q187K)
Ref Sequence ENSEMBL: ENSMUSP00000144770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731]
AlphaFold Q80WS1
Predicted Effect probably benign
Transcript: ENSMUST00000068242
AA Change: Q244K

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: Q244K

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
AA Change: Q187K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000138104
Gene: ENSMUSG00000040649
AA Change: Q187K

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: Q187K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: Q187K

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,783,690 (GRCm39) G956S probably damaging Het
Alpk2 G T 18: 65,483,644 (GRCm39) D121E probably benign Het
Apc A G 18: 34,450,147 (GRCm39) T2314A probably damaging Het
Arhgef11 T C 3: 87,636,810 (GRCm39) L990P probably damaging Het
Ccar1 T A 10: 62,589,013 (GRCm39) K823N unknown Het
Celsr2 C T 3: 108,321,195 (GRCm39) R539H possibly damaging Het
Clca3b A G 3: 144,550,389 (GRCm39) probably benign Het
Cpxcr1 T C X: 115,387,407 (GRCm39) L106S possibly damaging Het
Edc4 T A 8: 106,607,755 (GRCm39) L16Q probably damaging Het
Emc1 A G 4: 139,098,941 (GRCm39) E808G probably damaging Het
Epha6 A T 16: 59,595,904 (GRCm39) probably null Het
Epha7 G A 4: 28,938,693 (GRCm39) R516Q probably damaging Het
Fancm T C 12: 65,152,774 (GRCm39) S1077P probably benign Het
Gm4952 C T 19: 12,595,772 (GRCm39) T54I probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Il1b T C 2: 129,209,253 (GRCm39) R126G possibly damaging Het
Kin G A 2: 10,085,515 (GRCm39) R25H probably damaging Het
Kin T C 2: 10,085,517 (GRCm39) W26R probably damaging Het
Lamb3 A T 1: 193,021,191 (GRCm39) T923S possibly damaging Het
Lrp6 C T 6: 134,456,702 (GRCm39) S854N probably damaging Het
Ltv1 A G 10: 13,058,031 (GRCm39) F258L probably damaging Het
Mcm3ap T C 10: 76,306,159 (GRCm39) S91P probably benign Het
Msra A G 14: 64,360,774 (GRCm39) I125T probably damaging Het
Nr0b1 A T X: 85,236,077 (GRCm39) Q224L probably benign Het
Nr2e1 T A 10: 42,444,449 (GRCm39) D220V probably damaging Het
Nup160 C A 2: 90,523,450 (GRCm39) H351Q probably damaging Het
Or5b96 T A 19: 12,867,282 (GRCm39) M220L probably benign Het
Pcdh12 C A 18: 38,414,510 (GRCm39) V872L probably benign Het
Pcnx2 T A 8: 126,614,324 (GRCm39) S376C probably damaging Het
Pkd2 A G 5: 104,631,001 (GRCm39) E475G probably damaging Het
Psg22 A G 7: 18,458,392 (GRCm39) Y322C probably damaging Het
Rgl2 T C 17: 34,152,392 (GRCm39) I363T possibly damaging Het
Sectm1b A T 11: 120,947,075 (GRCm39) W17R probably damaging Het
Snu13 C A 15: 81,926,516 (GRCm39) A60S probably benign Het
Sox30 T A 11: 45,882,727 (GRCm39) F586I possibly damaging Het
Tnfsfm13 C A 11: 69,575,127 (GRCm39) V220L probably benign Het
Ttn A T 2: 76,593,117 (GRCm39) V20711E probably damaging Het
Vmn2r116 A G 17: 23,604,969 (GRCm39) N94S possibly damaging Het
Yipf2 T C 9: 21,503,820 (GRCm39) probably null Het
Zzef1 T C 11: 72,765,999 (GRCm39) S1509P probably benign Het
Other mutations in Rimklb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17