Incidental Mutation 'R8183:Lonrf1'
ID 634732
Institutional Source Beutler Lab
Gene Symbol Lonrf1
Ensembl Gene ENSMUSG00000039633
Gene Name LON peptidase N-terminal domain and ring finger 1
Synonyms
MMRRC Submission 067781-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.259) question?
Stock # R8183 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 36683216-36716513 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36689819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 718 (M718K)
Ref Sequence ENSEMBL: ENSMUSP00000066403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065297]
AlphaFold D3YY23
Predicted Effect possibly damaging
Transcript: ENSMUST00000065297
AA Change: M718K

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: M718K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T A 15: 72,991,337 (GRCm39) K534* probably null Het
Art1 A T 7: 101,756,633 (GRCm39) I275F probably damaging Het
Atp1a2 T C 1: 172,116,918 (GRCm39) N233S probably damaging Het
B3gnt2 T A 11: 22,786,373 (GRCm39) I272L probably benign Het
Bpifa1 A G 2: 153,988,039 (GRCm39) Q194R possibly damaging Het
Cand2 A G 6: 115,768,879 (GRCm39) E563G probably benign Het
Clns1a A G 7: 97,354,888 (GRCm39) Y78C probably damaging Het
Col20a1 T C 2: 180,640,207 (GRCm39) V483A Het
Col3a1 C G 1: 45,373,970 (GRCm39) P621R unknown Het
Cst9 G A 2: 148,678,634 (GRCm39) R88H possibly damaging Het
Cxxc1 T C 18: 74,353,428 (GRCm39) Y513H probably damaging Het
Dcdc2a T C 13: 25,291,633 (GRCm39) F206S possibly damaging Het
Dgkz C A 2: 91,769,937 (GRCm39) G576C probably damaging Het
Dpy19l3 A G 7: 35,394,814 (GRCm39) F575L probably damaging Het
Ftcd T A 10: 76,411,541 (GRCm39) M1K probably null Het
Gtf2ird1 T C 5: 134,386,689 (GRCm39) D1044G unknown Het
Gzmc A T 14: 56,470,164 (GRCm39) M111K probably damaging Het
Hpse T A 5: 100,832,984 (GRCm39) Y437F probably damaging Het
Ifi203 A G 1: 173,756,266 (GRCm39) S506P unknown Het
Igsf10 A T 3: 59,238,036 (GRCm39) I715K probably benign Het
Ints9 T C 14: 65,273,902 (GRCm39) V569A probably damaging Het
Itih3 A G 14: 30,631,433 (GRCm39) F821S probably benign Het
Kcnh7 T C 2: 62,533,321 (GRCm39) H1186R probably damaging Het
Krt33a A G 11: 99,905,575 (GRCm39) probably null Het
Mefv C T 16: 3,526,446 (GRCm39) R756K possibly damaging Het
Metap1d T A 2: 71,337,207 (GRCm39) F40Y possibly damaging Het
Myh1 A T 11: 67,092,832 (GRCm39) D42V possibly damaging Het
Myo15b T G 11: 115,773,843 (GRCm39) probably null Het
Nsd1 T C 13: 55,460,186 (GRCm39) S2241P probably damaging Het
Or10q12 T A 19: 13,746,086 (GRCm39) Y127N probably damaging Het
Osbpl3 C A 6: 50,280,089 (GRCm39) R710L probably benign Het
Osbpl6 C T 2: 76,415,404 (GRCm39) R589C probably damaging Het
Pam T C 1: 97,762,199 (GRCm39) T795A probably benign Het
Patj A C 4: 98,562,466 (GRCm39) E1534D probably damaging Het
Plscr5 A G 9: 92,080,655 (GRCm39) Q47R probably benign Het
Ppil1 A T 17: 29,481,053 (GRCm39) probably null Het
Sec23b G T 2: 144,401,189 (GRCm39) V17L probably benign Het
Serpina3j C A 12: 104,284,754 (GRCm39) Y310* probably null Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Tmprss15 T C 16: 78,884,400 (GRCm39) D94G probably benign Het
Tnpo3 A T 6: 29,558,758 (GRCm39) M724K probably damaging Het
Trappc11 T G 8: 47,982,391 (GRCm39) E116A possibly damaging Het
Trpc6 T C 9: 8,653,150 (GRCm39) F652S possibly damaging Het
Trrap T G 5: 144,765,343 (GRCm39) S2501A probably benign Het
Ubr4 T G 4: 139,209,782 (GRCm39) S5005A unknown Het
Urah A T 7: 140,416,707 (GRCm39) Q60L probably benign Het
Vmn2r28 A T 7: 5,491,147 (GRCm39) C367S probably damaging Het
Zmym1 T C 4: 126,952,649 (GRCm39) D44G probably benign Het
Other mutations in Lonrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Lonrf1 APN 8 36,697,231 (GRCm39) splice site probably benign
IGL02195:Lonrf1 APN 8 36,687,102 (GRCm39) nonsense probably null
IGL03087:Lonrf1 APN 8 36,692,705 (GRCm39) splice site probably null
IGL03163:Lonrf1 APN 8 36,697,484 (GRCm39) missense probably benign 0.03
IGL03225:Lonrf1 APN 8 36,689,855 (GRCm39) missense probably damaging 0.96
BB009:Lonrf1 UTSW 8 36,690,070 (GRCm39) missense probably benign 0.17
BB019:Lonrf1 UTSW 8 36,690,070 (GRCm39) missense probably benign 0.17
R0480:Lonrf1 UTSW 8 36,689,864 (GRCm39) missense probably damaging 1.00
R0504:Lonrf1 UTSW 8 36,698,313 (GRCm39) missense possibly damaging 0.93
R0557:Lonrf1 UTSW 8 36,697,574 (GRCm39) missense probably benign 0.12
R1489:Lonrf1 UTSW 8 36,690,108 (GRCm39) missense probably damaging 1.00
R1572:Lonrf1 UTSW 8 36,701,126 (GRCm39) missense probably benign 0.02
R2225:Lonrf1 UTSW 8 36,703,252 (GRCm39) missense probably damaging 0.98
R2345:Lonrf1 UTSW 8 36,690,016 (GRCm39) critical splice donor site probably null
R4821:Lonrf1 UTSW 8 36,687,126 (GRCm39) missense probably benign
R4934:Lonrf1 UTSW 8 36,701,103 (GRCm39) missense probably damaging 1.00
R5538:Lonrf1 UTSW 8 36,690,178 (GRCm39) critical splice acceptor site probably null
R6124:Lonrf1 UTSW 8 36,696,354 (GRCm39) missense probably damaging 0.97
R6485:Lonrf1 UTSW 8 36,696,288 (GRCm39) critical splice donor site probably null
R6603:Lonrf1 UTSW 8 36,690,095 (GRCm39) missense probably damaging 1.00
R6886:Lonrf1 UTSW 8 36,696,191 (GRCm39) splice site probably null
R7113:Lonrf1 UTSW 8 36,697,664 (GRCm39) missense probably benign 0.01
R7689:Lonrf1 UTSW 8 36,715,918 (GRCm39) nonsense probably null
R7711:Lonrf1 UTSW 8 36,716,375 (GRCm39) missense probably damaging 1.00
R7743:Lonrf1 UTSW 8 36,716,206 (GRCm39) missense possibly damaging 0.72
R7932:Lonrf1 UTSW 8 36,690,070 (GRCm39) missense probably benign 0.17
R8085:Lonrf1 UTSW 8 36,715,769 (GRCm39) missense probably damaging 1.00
R8500:Lonrf1 UTSW 8 36,698,292 (GRCm39) missense probably benign 0.00
R8527:Lonrf1 UTSW 8 36,686,986 (GRCm39) missense possibly damaging 0.90
R8993:Lonrf1 UTSW 8 36,696,392 (GRCm39) missense possibly damaging 0.95
R9100:Lonrf1 UTSW 8 36,715,919 (GRCm39) small deletion probably benign
R9464:Lonrf1 UTSW 8 36,690,024 (GRCm39) missense probably benign 0.01
R9479:Lonrf1 UTSW 8 36,697,668 (GRCm39) nonsense probably null
R9717:Lonrf1 UTSW 8 36,701,164 (GRCm39) missense probably damaging 1.00
R9794:Lonrf1 UTSW 8 36,703,235 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGCTCCTGAATGGGCAAAC -3'
(R):5'- TTGCACCGGAGCTTCCTTTG -3'

Sequencing Primer
(F):5'- GAGCTCCTGAATGGGCAAACAATTC -3'
(R):5'- GTGTCCGAATGGGCTGAAGC -3'
Posted On 2020-07-13