Incidental Mutation 'R5310:Rimkla'
ID404770
Institutional Source Beutler Lab
Gene Symbol Rimkla
Ensembl Gene ENSMUSG00000048899
Gene Nameribosomal modification protein rimK-like family member A
SynonymsNAAGS-II, Rimk
MMRRC Submission 042893-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #R5310 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location119465283-119492628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119477852 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 111 (K111N)
Ref Sequence ENSEMBL: ENSMUSP00000058996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049994]
Predicted Effect probably damaging
Transcript: ENSMUST00000049994
AA Change: K111N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: K111N

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
Pfam:ATP-grasp_4 107 279 3.6e-12 PFAM
Pfam:ATP-grasp_3 108 279 8.7e-9 PFAM
Pfam:RimK 108 299 7.2e-43 PFAM
Pfam:GSH-S_ATP 124 271 2.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126728
Meta Mutation Damage Score 0.0272 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A C 1: 26,685,088 V337G probably benign Het
Abca15 A T 7: 120,332,616 I31L possibly damaging Het
Abca17 T C 17: 24,281,230 K1329R probably benign Het
Acap2 A G 16: 31,133,609 Y197H probably benign Het
Adgrv1 A G 13: 81,476,690 V3720A possibly damaging Het
Alms1 T A 6: 85,615,368 S870T possibly damaging Het
Anapc4 A G 5: 52,859,159 E493G probably benign Het
Ap2a1 A G 7: 44,906,065 probably null Het
Arhgef38 A G 3: 133,116,466 L179P probably damaging Het
Bicral T C 17: 46,813,983 D630G possibly damaging Het
Ccdc97 A T 7: 25,715,776 L154Q probably damaging Het
Cd40 T C 2: 165,063,563 probably null Het
Celsr1 T A 15: 85,926,222 N2155I possibly damaging Het
Cemip A T 7: 83,992,033 L261H probably damaging Het
Cep57 G A 9: 13,818,868 H98Y probably damaging Het
Chrna7 A T 7: 63,106,057 L247Q probably damaging Het
Cyp2c40 T A 19: 39,778,030 M374L probably damaging Het
Cyp4f13 T C 17: 32,925,821 D372G probably damaging Het
Dazl C A 17: 50,281,283 S288I probably damaging Het
Dnah5 T C 15: 28,311,328 F1818L probably damaging Het
Echdc1 T C 10: 29,334,208 V143A possibly damaging Het
Eif4enif1 T A 11: 3,242,687 H838Q probably damaging Het
Erich3 A T 3: 154,763,580 D1223V probably damaging Het
Fbxl2 A G 9: 113,986,508 I229T possibly damaging Het
Gfm2 G A 13: 97,163,151 A406T probably damaging Het
Ggnbp2 A G 11: 84,869,968 M1T probably null Het
Glb1l2 C T 9: 26,796,866 probably benign Het
Gnl2 A G 4: 125,052,840 K618R probably benign Het
Greb1 A T 12: 16,716,759 I346K probably benign Het
Greb1l G A 18: 10,542,427 E1341K probably damaging Het
Gtse1 A G 15: 85,873,792 Q533R probably benign Het
Hemgn A G 4: 46,403,927 S23P possibly damaging Het
Htr6 G T 4: 139,061,666 H359Q probably damaging Het
Ifit1 T C 19: 34,648,804 F447L probably benign Het
Kansl1 T C 11: 104,424,858 Y118C possibly damaging Het
Khk G A 5: 30,927,029 V118M probably benign Het
Klra17 T A 6: 129,868,708 K181M probably damaging Het
Lbh T C 17: 72,921,292 probably null Het
Lmo2 T C 2: 103,976,100 I108T probably damaging Het
Mgat5 T A 1: 127,387,514 probably null Het
Mink1 T C 11: 70,607,343 V525A probably benign Het
Myo10 C A 15: 25,778,078 probably null Het
Nlrp2 T C 7: 5,325,008 N682S probably benign Het
Nr2e3 G A 9: 59,949,334 probably benign Het
Olfr1415 T C 1: 92,491,036 T240A probably damaging Het
Olfr467 T C 7: 107,814,964 C129R probably damaging Het
Pabpc4l T C 3: 46,446,841 T123A probably benign Het
Pfas G A 11: 68,988,021 S1319F probably damaging Het
Phf3 T C 1: 30,803,806 K2024R probably damaging Het
Pld4 G A 12: 112,768,612 C501Y probably damaging Het
Psg16 C T 7: 17,090,635 R115W probably damaging Het
Rab3gap1 G A 1: 127,942,373 probably null Het
Rrm2b T C 15: 37,927,327 E113G probably damaging Het
Rspry1 C T 8: 94,623,185 T67I probably benign Het
Skint6 C A 4: 113,184,768 E292* probably null Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slc13a1 A G 6: 24,134,374 M170T probably benign Het
Slc15a5 T C 6: 138,073,036 N127S probably benign Het
Slc39a10 G A 1: 46,836,125 H6Y probably damaging Het
Sugct A T 13: 17,252,560 C338* probably null Het
Tbk1 A T 10: 121,556,051 M486K probably benign Het
Terf1 A T 1: 15,805,685 E3V probably damaging Het
Thoc5 T A 11: 4,910,648 Y246N probably damaging Het
Tmem167b G A 3: 108,562,099 probably benign Het
Tmem57 T C 4: 134,837,019 probably benign Het
Tmtc1 T A 6: 148,355,412 probably benign Het
Zfp322a A T 13: 23,357,362 M70K possibly damaging Het
Zfp979 A T 4: 147,613,918 H111Q possibly damaging Het
Other mutations in Rimkla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Rimkla APN 4 119477959 missense possibly damaging 0.76
IGL02078:Rimkla APN 4 119468147 missense probably damaging 1.00
IGL02292:Rimkla APN 4 119468352 missense probably damaging 1.00
IGL02369:Rimkla APN 4 119477949 missense possibly damaging 0.94
R0654:Rimkla UTSW 4 119477980 missense probably damaging 0.99
R0707:Rimkla UTSW 4 119477980 missense probably damaging 0.99
R1397:Rimkla UTSW 4 119468111 missense probably benign 0.43
R2146:Rimkla UTSW 4 119474582 missense possibly damaging 0.95
R2148:Rimkla UTSW 4 119474582 missense possibly damaging 0.95
R2150:Rimkla UTSW 4 119474582 missense possibly damaging 0.95
R3726:Rimkla UTSW 4 119477789 critical splice donor site probably null
R5806:Rimkla UTSW 4 119468466 missense probably damaging 1.00
R6525:Rimkla UTSW 4 119468091 missense probably benign
R7073:Rimkla UTSW 4 119468078 missense probably benign 0.11
R7294:Rimkla UTSW 4 119468466 missense probably damaging 1.00
R7431:Rimkla UTSW 4 119477811 missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- TGGTCAAGGCAGTTCACAC -3'
(R):5'- TGAGCTCACTCTAGCCCTTG -3'

Sequencing Primer
(F):5'- GGACTGGCCAGCATTTAATATG -3'
(R):5'- CCTTGCTTGCAGGCCTG -3'
Posted On2016-07-22