Incidental Mutation 'IGL03225:Lonrf1'
ID413762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lonrf1
Ensembl Gene ENSMUSG00000039633
Gene NameLON peptidase N-terminal domain and ring finger 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL03225
Quality Score
Status
Chromosome8
Chromosomal Location36216064-36249516 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36222701 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 706 (V706A)
Ref Sequence ENSEMBL: ENSMUSP00000066403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065297]
Predicted Effect probably damaging
Transcript: ENSMUST00000065297
AA Change: V706A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: V706A

DomainStartEndE-ValueType
low complexity region 8 38 N/A INTRINSIC
low complexity region 54 68 N/A INTRINSIC
low complexity region 106 161 N/A INTRINSIC
RING 193 228 1.57e-2 SMART
SCOP:d1elwa_ 274 387 3e-16 SMART
Blast:TPR 309 342 1e-14 BLAST
Blast:TPR 343 376 2e-15 BLAST
low complexity region 454 464 N/A INTRINSIC
RING 543 580 3.12e-6 SMART
Pfam:LON_substr_bdg 631 830 8e-30 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik A G 14: 32,805,176 I33M probably damaging Het
4933405O20Rik A G 7: 50,599,920 K234R probably benign Het
Adam21 T C 12: 81,559,269 E573G probably benign Het
Aox4 A T 1: 58,247,227 I673F possibly damaging Het
Arfgef1 A T 1: 10,154,318 I1431N probably damaging Het
BC022687 T C 12: 112,815,591 Y283H probably damaging Het
Cask A G X: 13,665,521 M103V possibly damaging Het
Fam83h T C 15: 76,003,301 E729G probably damaging Het
Gnb4 T C 3: 32,587,732 T249A probably damaging Het
Gpr12 A G 5: 146,583,951 S54P probably damaging Het
Krt20 A G 11: 99,431,930 V293A probably damaging Het
Lrrc58 T G 16: 37,881,270 C303W probably damaging Het
Mbnl2 A G 14: 120,385,463 T138A probably benign Het
Mss51 G A 14: 20,487,137 R88* probably null Het
Nup214 T A 2: 32,034,411 S146T probably damaging Het
Otop2 G A 11: 115,329,807 R491H probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkcz A T 4: 155,268,195 F492I probably damaging Het
Sgtb T C 13: 104,131,945 L163P probably damaging Het
Spsb3 T C 17: 24,891,071 I365T possibly damaging Het
Trio T C 15: 27,902,695 I227V probably benign Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Wasf2 A G 4: 133,176,546 T22A probably benign Het
Other mutations in Lonrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Lonrf1 APN 8 36230077 splice site probably benign
IGL02195:Lonrf1 APN 8 36219948 nonsense probably null
IGL03087:Lonrf1 APN 8 36225551 splice site probably null
IGL03163:Lonrf1 APN 8 36230330 missense probably benign 0.03
BB009:Lonrf1 UTSW 8 36222916 missense probably benign 0.17
BB019:Lonrf1 UTSW 8 36222916 missense probably benign 0.17
R0480:Lonrf1 UTSW 8 36222710 missense probably damaging 1.00
R0504:Lonrf1 UTSW 8 36231159 missense possibly damaging 0.93
R0557:Lonrf1 UTSW 8 36230420 missense probably benign 0.12
R1489:Lonrf1 UTSW 8 36222954 missense probably damaging 1.00
R1572:Lonrf1 UTSW 8 36233972 missense probably benign 0.02
R2225:Lonrf1 UTSW 8 36236098 missense probably damaging 0.98
R2345:Lonrf1 UTSW 8 36222862 critical splice donor site probably null
R4821:Lonrf1 UTSW 8 36219972 missense probably benign
R4934:Lonrf1 UTSW 8 36233949 missense probably damaging 1.00
R5538:Lonrf1 UTSW 8 36223024 critical splice acceptor site probably null
R6124:Lonrf1 UTSW 8 36229200 missense probably damaging 0.97
R6485:Lonrf1 UTSW 8 36229134 critical splice donor site probably null
R6603:Lonrf1 UTSW 8 36222941 missense probably damaging 1.00
R6886:Lonrf1 UTSW 8 36229037 splice site probably null
R7113:Lonrf1 UTSW 8 36230510 missense probably benign 0.01
R7689:Lonrf1 UTSW 8 36248764 nonsense probably null
R7711:Lonrf1 UTSW 8 36249221 missense probably damaging 1.00
R7743:Lonrf1 UTSW 8 36249052 missense possibly damaging 0.72
R7932:Lonrf1 UTSW 8 36222916 missense probably benign 0.17
R8085:Lonrf1 UTSW 8 36248615 missense probably damaging 1.00
R8183:Lonrf1 UTSW 8 36222665 missense possibly damaging 0.81
Posted On2016-08-02