Incidental Mutation 'R0234:Rimklb'
ID 59027
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 038475-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0234 (G1)
Quality Score 190
Status Not validated
Chromosome 6
Chromosomal Location 122424255-122464021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122433292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 343 (N343S)
Ref Sequence ENSEMBL: ENSMUSP00000064467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731]
AlphaFold Q80WS1
Predicted Effect probably benign
Transcript: ENSMUST00000068242
AA Change: N343S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: N343S

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 probably benign
Transcript: ENSMUST00000204731
AA Change: N286S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: N286S

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,941 (GRCm39) R197G possibly damaging Het
Acacb A T 5: 114,347,878 (GRCm39) H983L probably damaging Het
Adal T A 2: 120,978,798 (GRCm39) D139E probably benign Het
Adam6b G A 12: 113,454,230 (GRCm39) R349H probably damaging Het
Agap1 A G 1: 89,598,934 (GRCm39) K331E probably damaging Het
Alyref T C 11: 120,489,133 (GRCm39) D11G probably damaging Het
B3gat1 A G 9: 26,667,377 (GRCm39) E203G probably damaging Het
Bsn T C 9: 107,993,595 (GRCm39) E719G possibly damaging Het
Cap2 G C 13: 46,791,498 (GRCm39) probably null Het
Ccni A G 5: 93,350,186 (GRCm39) V31A probably benign Het
Cdcp3 T A 7: 130,796,032 (GRCm39) probably null Het
Cfap54 A T 10: 92,735,022 (GRCm39) L2343* probably null Het
Clns1a T A 7: 97,363,239 (GRCm39) Y204N possibly damaging Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Dsp A G 13: 38,371,869 (GRCm39) N940S probably benign Het
Erbb2 T C 11: 98,327,265 (GRCm39) V1181A probably benign Het
Exoc4 T C 6: 33,839,022 (GRCm39) V686A possibly damaging Het
F830045P16Rik A G 2: 129,305,384 (GRCm39) V330A possibly damaging Het
Fbf1 A C 11: 116,045,860 (GRCm39) F245V probably damaging Het
Fut10 T A 8: 31,726,225 (GRCm39) F327I probably damaging Het
Galnt1 C T 18: 24,387,690 (GRCm39) P144S probably damaging Het
Garin4 T C 1: 190,895,105 (GRCm39) S513G probably benign Het
Ghrhr A T 6: 55,356,171 (GRCm39) D88V possibly damaging Het
Greb1l T A 18: 10,560,331 (GRCm39) C1864S probably damaging Het
H1f2 T C 13: 23,923,106 (GRCm39) I92T probably benign Het
Hps1 T C 19: 42,750,992 (GRCm39) E336G probably damaging Het
Ibsp GGAAGAAGAAGAAGAAGA GGAAGAAGAAGAAGA 5: 104,457,935 (GRCm39) probably benign Het
Irgc C A 7: 24,132,753 (GRCm39) E21D possibly damaging Het
Itsn1 A T 16: 91,625,168 (GRCm39) R590* probably null Het
Katnip T C 7: 125,394,557 (GRCm39) V211A probably benign Het
Lmln T C 16: 32,886,694 (GRCm39) V67A probably damaging Het
Lsm14a T C 7: 34,065,042 (GRCm39) Q179R probably damaging Het
Ltbr A C 6: 125,289,836 (GRCm39) D119E probably benign Het
Mrc1 A G 2: 14,284,705 (GRCm39) T565A possibly damaging Het
Muc6 A C 7: 141,235,939 (GRCm39) N473K possibly damaging Het
Myocd A T 11: 65,078,066 (GRCm39) D448E probably benign Het
Neil2 T A 14: 63,420,975 (GRCm39) I239F probably damaging Het
Npnt A G 3: 132,620,175 (GRCm39) F123S possibly damaging Het
Or2g25 T A 17: 37,970,997 (GRCm39) I76F probably damaging Het
Or4f15 T C 2: 111,813,645 (GRCm39) Y258C probably damaging Het
Or52x1 C A 7: 104,852,821 (GRCm39) C243F probably damaging Het
Or56a5 T C 7: 104,793,281 (GRCm39) D73G probably damaging Het
Or5d37 T A 2: 87,923,366 (GRCm39) R305* probably null Het
Or8d1b A C 9: 38,887,547 (GRCm39) probably null Het
Or9i2 C T 19: 13,815,902 (GRCm39) V212M possibly damaging Het
Pcnx3 T C 19: 5,722,646 (GRCm39) T941A probably benign Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pitrm1 C A 13: 6,625,115 (GRCm39) Y864* probably null Het
Plcb4 T C 2: 135,823,995 (GRCm39) I844T probably benign Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Ppp1r3b T A 8: 35,851,655 (GRCm39) F165I probably damaging Het
Prr5 T A 15: 84,587,322 (GRCm39) F357L probably damaging Het
Rasgrf1 A T 9: 89,891,419 (GRCm39) I1046F probably damaging Het
Rbm15b T C 9: 106,762,563 (GRCm39) Y535C probably damaging Het
Rbp3 A T 14: 33,677,858 (GRCm39) E602V probably damaging Het
Rrp12 A G 19: 41,860,199 (GRCm39) L1008P probably damaging Het
Sec63 C T 10: 42,674,794 (GRCm39) R226C probably damaging Het
Sirpa T C 2: 129,457,388 (GRCm39) V154A probably damaging Het
Slc13a5 C G 11: 72,141,626 (GRCm39) V405L probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a23 G A 13: 34,367,244 (GRCm39) T588I probably damaging Het
Slc22a27 C A 19: 7,904,156 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a5 A T 8: 71,342,277 (GRCm39) M258K probably damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Stk11ip A G 1: 75,505,711 (GRCm39) D460G possibly damaging Het
Syn3 T A 10: 86,284,750 (GRCm39) I117F possibly damaging Het
Tead4 C T 6: 128,220,365 (GRCm39) A224T probably damaging Het
Tmtc3 A T 10: 100,286,184 (GRCm39) N546K probably benign Het
Tnn T A 1: 159,916,036 (GRCm39) H1227L probably damaging Het
Tor2a G A 2: 32,648,716 (GRCm39) G62D probably damaging Het
Trf T C 9: 103,104,078 (GRCm39) probably null Het
Ubr5 T C 15: 37,968,737 (GRCm39) T2727A probably damaging Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Wipf3 T G 6: 54,473,486 (GRCm39) L458R probably damaging Het
Zfp236 T C 18: 82,648,119 (GRCm39) K966R probably damaging Het
Zfp27 T A 7: 29,593,532 (GRCm39) H811L possibly damaging Het
Zfp366 A G 13: 99,370,768 (GRCm39) H496R probably damaging Het
Zfp467 A T 6: 48,415,689 (GRCm39) V321E probably 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
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
Predicted Primers PCR Primer
(F):5'- CTCCATGAACAGCATTGCAAGTTGG -3'
(R):5'- ATGAAAGATGACGGCTCCTTCTGTG -3'

Sequencing Primer
(F):5'- CAGCATTGCAAGTTGGTTAAAG -3'
(R):5'- GCAAATGTAGGTTTCATCGCC -3'
Posted On 2013-07-11