Incidental Mutation 'IGL02369:Rimkla'
ID 290862
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 # IGL02369
Quality Score
Status
Chromosome 4
Chromosomal Location 119322480-119349795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119335146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 79 (V79A)
Ref Sequence ENSEMBL: ENSMUSP00000058996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049994]
AlphaFold Q6PFX8
Predicted Effect possibly damaging
Transcript: ENSMUST00000049994
AA Change: V79A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: V79A

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 G T 6: 39,551,678 (GRCm39) L148F probably damaging Het
Arhgef10 G A 8: 15,047,551 (GRCm39) R1138H probably damaging Het
Arpp21 T C 9: 111,948,266 (GRCm39) T668A probably benign Het
Atp6v0b T A 4: 117,742,850 (GRCm39) I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 (GRCm39) N324Y probably benign Het
Bach2 A G 4: 32,579,975 (GRCm39) I610M possibly damaging Het
Casr G T 16: 36,315,051 (GRCm39) D929E probably benign Het
Cbln2 T C 18: 86,731,479 (GRCm39) S96P probably damaging Het
Cpxm1 T C 2: 130,238,344 (GRCm39) K73E probably damaging Het
Erap1 A G 13: 74,814,645 (GRCm39) Y457C probably benign Het
Etl4 T C 2: 20,535,000 (GRCm39) Y152H probably damaging Het
Fbh1 A T 2: 11,751,969 (GRCm39) S910T possibly damaging Het
Gm10142 T C 10: 77,551,947 (GRCm39) S103P probably benign Het
Gm12886 A G 4: 121,280,229 (GRCm39) S16P unknown Het
Gpr146 T C 5: 139,378,443 (GRCm39) Y82H probably benign Het
Herc1 C T 9: 66,399,293 (GRCm39) Q4282* probably null Het
Htr2a A T 14: 74,943,722 (GRCm39) E434V probably benign Het
Iqsec3 T C 6: 121,389,893 (GRCm39) probably benign Het
Islr A C 9: 58,064,907 (GRCm39) V200G probably damaging Het
Katnal1 T C 5: 148,815,737 (GRCm39) D400G probably benign Het
Lonrf2 A G 1: 38,850,913 (GRCm39) probably benign Het
Lrp2 A T 2: 69,294,980 (GRCm39) L3446Q probably damaging Het
Med12l G A 3: 59,164,794 (GRCm39) V1425I probably benign Het
Myh13 T C 11: 67,251,100 (GRCm39) probably benign Het
Nutm2 T G 13: 50,623,944 (GRCm39) S214A probably benign Het
Or10aa1 T A 1: 173,869,539 (GRCm39) W8R possibly damaging Het
Or2h1b A G 17: 37,462,665 (GRCm39) F66S probably damaging Het
Or5b99 T C 19: 12,977,072 (GRCm39) S241P probably damaging Het
Or6c33 C A 10: 129,853,425 (GRCm39) A65E possibly damaging Het
Pax5 A T 4: 44,691,919 (GRCm39) M109K probably damaging Het
Pfkfb2 G A 1: 130,628,572 (GRCm39) R345W probably damaging Het
Pkd1l3 A G 8: 110,342,977 (GRCm39) D105G unknown Het
Prdm11 A G 2: 92,805,864 (GRCm39) V362A probably benign Het
Prex2 T C 1: 11,171,393 (GRCm39) probably null Het
Prl8a1 T C 13: 27,760,924 (GRCm39) T103A possibly damaging Het
Rgl1 T C 1: 152,409,357 (GRCm39) I493V probably damaging Het
Ryr2 A T 13: 11,634,382 (GRCm39) S3791R possibly damaging Het
Sh3rf2 C A 18: 42,289,222 (GRCm39) S681* probably null Het
Stmnd1 T A 13: 46,439,029 (GRCm39) I87K probably benign Het
Tspan8 C A 10: 115,675,782 (GRCm39) F149L probably benign Het
Tspan8 A C 10: 115,675,783 (GRCm39) K150Q probably benign Het
Ttn T C 2: 76,772,720 (GRCm39) E2425G probably damaging Het
Other mutations in Rimkla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Rimkla APN 4 119,335,156 (GRCm39) missense possibly damaging 0.76
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
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 2015-04-16