Incidental Mutation 'IGL02078:Rimkla'
ID283364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimkla
Ensembl Gene ENSMUSG00000048899
Gene Nameribosomal modification protein rimK-like family member A
SynonymsNAAGS-II, Rimk
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL02078
Quality Score
Status
Chromosome4
Chromosomal Location119465283-119492628 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119468147 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 355 (L355P)
Ref Sequence ENSEMBL: ENSMUSP00000058996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049994]
Predicted Effect probably damaging
Transcript: ENSMUST00000049994
AA Change: L355P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: L355P

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: ENSMUST00000129150
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging Het
Other mutations in Rimkla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Rimkla APN 4 119477959 missense possibly damaging 0.76
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
R5310:Rimkla UTSW 4 119477852 missense probably damaging 1.00
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
R7938:Rimkla UTSW 4 119470613 missense probably benign 0.16
Posted On2015-04-16