Incidental Mutation 'R0488:Rimklb'
ID 42405
Institutional Source Beutler Lab
Gene Symbol Rimklb
Ensembl Gene ENSMUSG00000040649
Gene Name ribosomal modification protein rimK-like family member B
Synonyms 4931417E21Rik, 4933426K21Rik, NAAGS
MMRRC Submission 038687-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0488 (G1)
Quality Score 186
Status Validated
Chromosome 6
Chromosomal Location 122424255-122464021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122437934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 103 (T103I)
Ref Sequence ENSEMBL: ENSMUSP00000144770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731] [ENSMUST00000205114]
AlphaFold Q80WS1
Predicted Effect probably benign
Transcript: ENSMUST00000068242
AA Change: T160I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: T160I

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: ENSMUST00000143701
Predicted Effect probably benign
Transcript: ENSMUST00000146274
AA Change: T103I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138104
Gene: ENSMUSG00000040649
AA Change: T103I

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 benign
Transcript: ENSMUST00000204731
AA Change: T103I

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: T103I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T G 11: 46,029,757 (GRCm39) L734R probably damaging Het
Adgrf1 T C 17: 43,621,302 (GRCm39) I513T probably damaging Het
Adgrl2 A G 3: 148,552,541 (GRCm39) V654A probably damaging Het
Agl A T 3: 116,548,611 (GRCm39) Y1249* probably null Het
Ankar T A 1: 72,697,891 (GRCm39) Q996H probably damaging Het
Aqp12 T C 1: 92,936,378 (GRCm39) Y235H probably damaging Het
Arsb T C 13: 94,077,013 (GRCm39) V460A probably benign Het
Baiap3 A G 17: 25,467,444 (GRCm39) probably null Het
Cd44 T C 2: 102,664,564 (GRCm39) probably benign Het
Clec4b1 T A 6: 123,048,441 (GRCm39) I192N probably damaging Het
Cplane2 A G 4: 140,941,712 (GRCm39) D14G probably benign Het
Cps1 A C 1: 67,187,967 (GRCm39) probably benign Het
Dab2 T C 15: 6,454,135 (GRCm39) L215S probably damaging Het
E2f4 G A 8: 106,025,171 (GRCm39) V84I probably damaging Het
Edem2 T C 2: 155,558,043 (GRCm39) T197A probably damaging Het
Eno2 T A 6: 124,740,837 (GRCm39) M121L probably benign Het
Ephb1 A G 9: 101,841,207 (GRCm39) V757A probably damaging Het
Etv5 T A 16: 22,231,695 (GRCm39) I106F probably damaging Het
Foxj3 T A 4: 119,477,187 (GRCm39) Y298* probably null Het
Gm12185 A G 11: 48,798,666 (GRCm39) L609S probably damaging Het
Gm5884 T C 6: 128,623,031 (GRCm39) noncoding transcript Het
Havcr1 A G 11: 46,643,398 (GRCm39) Y106C probably damaging Het
Jmjd1c A G 10: 67,076,506 (GRCm39) N2110S probably damaging Het
Kif2b T C 11: 91,467,798 (GRCm39) K162E probably benign Het
Micu2 T C 14: 58,169,699 (GRCm39) Y217C probably benign Het
Mink1 G T 11: 70,488,030 (GRCm39) G32C probably damaging Het
Mnat1 T A 12: 73,217,413 (GRCm39) N96K probably damaging Het
Mpp2 G T 11: 101,952,427 (GRCm39) R349S possibly damaging Het
Mrpl13 T A 15: 55,402,544 (GRCm39) I59F probably benign Het
Mybl2 T C 2: 162,914,534 (GRCm39) probably benign Het
Otogl T C 10: 107,639,466 (GRCm39) E1382G probably benign Het
Pclo A G 5: 14,719,313 (GRCm39) E1150G unknown Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Pla2g4a G A 1: 149,747,196 (GRCm39) T322M probably damaging Het
Pramel11 A T 4: 143,621,973 (GRCm39) Y461N probably benign Het
Prpsap2 A G 11: 61,631,826 (GRCm39) I177T possibly damaging Het
Ptprg A T 14: 12,220,653 (GRCm38) D455V probably damaging Het
Ptprt T C 2: 161,395,745 (GRCm39) T1162A probably damaging Het
Rad51ap1 T C 6: 126,911,723 (GRCm39) N55D possibly damaging Het
Rc3h2 T C 2: 37,279,600 (GRCm39) E543G probably damaging Het
Samd4b T C 7: 28,113,662 (GRCm39) Y101C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tubgcp5 T A 7: 55,479,086 (GRCm39) S979T probably damaging Het
Vmn2r93 G A 17: 18,546,311 (GRCm39) E728K probably damaging Het
Wdr17 T C 8: 55,146,087 (GRCm39) probably benign Het
Wdr90 T C 17: 26,067,591 (GRCm39) Y1457C probably damaging Het
Wsb1 T C 11: 79,135,326 (GRCm39) D225G probably damaging Het
Xirp2 T C 2: 67,345,165 (GRCm39) S2469P possibly damaging Het
Zeb1 T A 18: 5,772,455 (GRCm39) C915S probably damaging Het
Znfx1 C A 2: 166,884,483 (GRCm39) R923L possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ACAGACGTGACATTTCTCCACATCC -3'
(R):5'- CCTTGTGTTGTGCTTAAAAGTGGTTCCA -3'

Sequencing Primer
(F):5'- TTTTCCAACTAGACAACCTGAGGG -3'
(R):5'- CAGGTGGCCACGAAAACTTT -3'
Posted On 2013-05-23