Incidental Mutation 'IGL01335:Rimkla'
ID 74598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimkla
Ensembl Gene ENSMUSG00000048899
Gene Name ribosomal modification protein rimK-like family member A
Synonyms Rimk, NAAGS-II
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # IGL01335
Quality Score
Status
Chromosome 4
Chromosomal Location 119322480-119349795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119335156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 76 (T76A)
Ref Sequence ENSEMBL: ENSMUSP00000058996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049994]
AlphaFold Q6PFX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000049994
AA Change: T76A

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: T76A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,284,307 (GRCm39) M300K possibly damaging Het
Adamts14 T A 10: 61,034,460 (GRCm39) R1143W possibly damaging Het
Ankrd28 T C 14: 31,423,981 (GRCm39) Y1083C probably damaging Het
Anxa8 T C 14: 33,811,547 (GRCm39) M34T probably damaging Het
Aox1 G T 1: 58,121,312 (GRCm39) E928* probably null Het
Atp8b5 T A 4: 43,302,628 (GRCm39) F50L possibly damaging Het
Brpf1 A G 6: 113,296,298 (GRCm39) S863G probably damaging Het
Cdc42bpb A G 12: 111,260,530 (GRCm39) probably benign Het
Cdh6 C T 15: 13,051,395 (GRCm39) A413T probably benign Het
Cfap96 A T 8: 46,426,642 (GRCm39) probably benign Het
Cfap97 A G 8: 46,623,492 (GRCm39) Q294R probably damaging Het
Cit C T 5: 116,046,889 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,690,497 (GRCm39) Y736C possibly damaging Het
Eno2 C T 6: 124,743,618 (GRCm39) G107E probably damaging Het
Gja8 T C 3: 96,826,558 (GRCm39) Q368R probably benign Het
Gm3633 T A 14: 42,462,595 (GRCm39) probably benign Het
Gm4987 A T X: 45,544,755 (GRCm39) noncoding transcript Het
Gna13 G A 11: 109,256,569 (GRCm39) R164Q probably damaging Het
Grhl1 A T 12: 24,658,057 (GRCm39) E351D probably damaging Het
Idua A G 5: 108,828,737 (GRCm39) Q280R probably benign Het
Igsf5 T A 16: 96,174,353 (GRCm39) probably benign Het
Mrpl52 T C 14: 54,664,656 (GRCm39) Y39H probably damaging Het
Naa16 A T 14: 79,582,556 (GRCm39) probably benign Het
Naa35 T A 13: 59,764,610 (GRCm39) L338Q probably damaging Het
Nat8l A T 5: 34,155,791 (GRCm39) Y149F probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Ncoa1 A T 12: 4,347,520 (GRCm39) S351R probably benign Het
Or10w1 A T 19: 13,632,540 (GRCm39) H249L probably damaging Het
Or12e10 A T 2: 87,640,790 (GRCm39) T209S probably damaging Het
Or6c8b T C 10: 128,882,380 (GRCm39) K184R probably benign Het
Or8k1 A T 2: 86,047,916 (GRCm39) L46Q probably damaging Het
Pacs1 A T 19: 5,192,660 (GRCm39) V624E probably damaging Het
Pde6b G A 5: 108,571,379 (GRCm39) R444H probably benign Het
Pigk A T 3: 152,448,173 (GRCm39) T226S probably benign Het
Prkdc T C 16: 15,634,760 (GRCm39) probably null Het
Ptbp1 G A 10: 79,698,708 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,307,484 (GRCm39) V418A probably damaging Het
Rhot1 A T 11: 80,141,055 (GRCm39) D421V probably damaging Het
Rtn1 A G 12: 72,355,124 (GRCm39) V274A probably benign Het
Tatdn2 T A 6: 113,681,017 (GRCm39) M289K probably benign Het
Trak1 A G 9: 121,283,382 (GRCm39) T476A possibly damaging Het
Ube2i C A 17: 25,488,410 (GRCm39) Q11H probably damaging Het
Ugt2a3 A T 5: 87,484,644 (GRCm39) C127S probably damaging Het
Uimc1 T A 13: 55,182,724 (GRCm39) Q619L probably benign Het
Upk3a T A 15: 84,903,786 (GRCm39) Y162N probably damaging Het
Usp33 T C 3: 152,097,854 (GRCm39) S849P probably damaging Het
Vmn2r120 G A 17: 57,832,732 (GRCm39) T149I possibly damaging Het
Vmn2r15 G A 5: 109,434,602 (GRCm39) P701S possibly damaging Het
Vmn2r28 T C 7: 5,484,087 (GRCm39) I704M possibly damaging Het
Wdhd1 T C 14: 47,488,239 (GRCm39) E756G possibly damaging Het
Xlr3c C A X: 72,303,639 (GRCm39) V102F probably benign Het
Zfp384 T G 6: 125,002,016 (GRCm39) D220E probably benign Het
Zfp521 A T 18: 13,977,776 (GRCm39) V879E probably benign Het
Other mutations in Rimkla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02078:Rimkla APN 4 119,325,344 (GRCm39) missense probably damaging 1.00
IGL02292:Rimkla APN 4 119,325,549 (GRCm39) missense probably damaging 1.00
IGL02369:Rimkla APN 4 119,335,146 (GRCm39) missense possibly damaging 0.94
R0654:Rimkla UTSW 4 119,335,177 (GRCm39) missense probably damaging 0.99
R0707:Rimkla UTSW 4 119,335,177 (GRCm39) missense probably damaging 0.99
R1397:Rimkla UTSW 4 119,325,308 (GRCm39) missense probably benign 0.43
R2146:Rimkla UTSW 4 119,331,779 (GRCm39) missense possibly damaging 0.95
R2148:Rimkla UTSW 4 119,331,779 (GRCm39) missense possibly damaging 0.95
R2150:Rimkla UTSW 4 119,331,779 (GRCm39) missense possibly damaging 0.95
R3726:Rimkla UTSW 4 119,334,986 (GRCm39) critical splice donor site probably null
R5310:Rimkla UTSW 4 119,335,049 (GRCm39) missense probably damaging 1.00
R5806:Rimkla UTSW 4 119,325,663 (GRCm39) missense probably damaging 1.00
R6525:Rimkla UTSW 4 119,325,288 (GRCm39) missense probably benign
R7073:Rimkla UTSW 4 119,325,275 (GRCm39) missense probably benign 0.11
R7294:Rimkla UTSW 4 119,325,663 (GRCm39) missense probably damaging 1.00
R7431:Rimkla UTSW 4 119,335,008 (GRCm39) missense probably benign 0.45
R7938:Rimkla UTSW 4 119,327,810 (GRCm39) missense probably benign 0.16
R8789:Rimkla UTSW 4 119,349,607 (GRCm39) missense probably damaging 1.00
R8804:Rimkla UTSW 4 119,325,273 (GRCm39) nonsense probably null
Posted On 2013-10-07