Incidental Mutation 'IGL01674:Rimklb'
ID103581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rimklb
Ensembl Gene ENSMUSG00000040649
Gene Nameribosomal modification protein rimK-like family member B
Synonyms4931417E21Rik, NAAGS, 4933426K21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01674
Quality Score
Status
Chromosome6
Chromosomal Location122447296-122498761 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122459170 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 150 (I150F)
Ref Sequence ENSEMBL: ENSMUSP00000144770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068242] [ENSMUST00000146274] [ENSMUST00000204731] [ENSMUST00000205114]
Predicted Effect probably benign
Transcript: ENSMUST00000068242
AA Change: I207F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000064467
Gene: ENSMUSG00000040649
AA Change: I207F

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: ENSMUST00000143701
Predicted Effect probably benign
Transcript: ENSMUST00000146274
AA Change: I150F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138104
Gene: ENSMUSG00000040649
AA Change: I150F

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 damaging
Transcript: ENSMUST00000204731
AA Change: I150F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144770
Gene: ENSMUSG00000040649
AA Change: I150F

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
Predicted Effect probably benign
Transcript: ENSMUST00000205114
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef39 A G 4: 43,497,590 L222P probably damaging Het
Art3 T A 5: 92,403,614 Y17* probably null Het
Cadps2 A G 6: 23,355,852 L859P probably damaging Het
Celsr2 A G 3: 108,414,843 Y218H probably damaging Het
Ces5a A G 8: 93,502,219 V461A probably damaging Het
Clic4 C A 4: 135,238,893 V51L probably benign Het
Col6a3 A G 1: 90,802,514 L1083P probably damaging Het
Cul5 T C 9: 53,635,007 E328G probably damaging Het
Erap1 T C 13: 74,664,231 probably benign Het
Fn1 G A 1: 71,606,741 P1527L probably damaging Het
Gm20547 T A 17: 34,881,655 Q63L probably benign Het
Gm5089 T C 14: 122,436,163 T49A unknown Het
Ippk T C 13: 49,449,264 L362S probably damaging Het
Krt23 T C 11: 99,486,767 M138V probably benign Het
Magi3 A G 3: 104,105,721 probably benign Het
Mcc T A 18: 44,491,156 I266F probably benign Het
Mcph1 A G 8: 18,631,519 E224G probably damaging Het
Neurod4 A T 10: 130,271,018 L129H probably damaging Het
Olfr1097 T C 2: 86,890,749 Y142C probably benign Het
Olfr1230 T A 2: 89,296,670 N200I probably damaging Het
Olfr126 T A 17: 37,609,962 D263V probably damaging Het
Olfr1449 T C 19: 12,935,562 S275P probably damaging Het
Piezo2 A T 18: 63,027,559 I2342N probably damaging Het
Pnpt1 A G 11: 29,155,787 Q632R probably benign Het
Ppp2r2c T C 5: 36,940,226 M252T possibly damaging Het
Ppp4r2 A G 6: 100,864,683 N142D possibly damaging Het
Prex2 G T 1: 11,170,741 K1024N probably damaging Het
Slco4c1 T C 1: 96,842,493 Q282R probably damaging Het
Tmem92 T C 11: 94,778,693 E148G probably damaging Het
Traf7 T C 17: 24,510,375 probably benign Het
Ubr5 G A 15: 37,998,379 T1622M probably damaging Het
Vmn1r5 T A 6: 56,985,926 S195R probably damaging Het
Vmn2r67 C T 7: 85,136,443 V785I probably damaging Het
Ythdc2 G A 18: 44,860,404 D839N probably benign Het
Zfp184 T C 13: 21,950,225 probably benign Het
Zfp654 T C 16: 64,784,641 N525S probably benign Het
Other mutations in Rimklb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Rimklb APN 6 122456631 missense possibly damaging 0.58
IGL03390:Rimklb APN 6 122456321 missense possibly damaging 0.71
IGL03401:Rimklb APN 6 122464118 missense probably damaging 1.00
R0234:Rimklb UTSW 6 122456333 missense probably benign 0.00
R0234:Rimklb UTSW 6 122456333 missense probably benign 0.00
R0479:Rimklb UTSW 6 122464216 splice site probably benign
R0488:Rimklb UTSW 6 122460975 missense probably benign 0.13
R1843:Rimklb UTSW 6 122464009 missense probably damaging 1.00
R2887:Rimklb UTSW 6 122472698 missense probably benign
R4674:Rimklb UTSW 6 122456283 nonsense probably null
R4746:Rimklb UTSW 6 122472632 nonsense probably null
R4755:Rimklb UTSW 6 122456406 missense probably damaging 1.00
R4888:Rimklb UTSW 6 122464092 unclassified probably null
R6174:Rimklb UTSW 6 122456412 missense probably damaging 0.99
R7041:Rimklb UTSW 6 122459217 nonsense probably null
R7170:Rimklb UTSW 6 122452738 missense probably benign
Posted On2014-01-21