Incidental Mutation 'R6292:Mkrn2'
ID 508496
Institutional Source Beutler Lab
Gene Symbol Mkrn2
Ensembl Gene ENSMUSG00000000439
Gene Name makorin, ring finger protein, 2
Synonyms 2610002L04Rik
MMRRC Submission 044461-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6292 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 115578844-115598647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115590295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 217 (M217K)
Ref Sequence ENSEMBL: ENSMUSP00000000449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000449]
AlphaFold Q9ERV1
Predicted Effect probably damaging
Transcript: ENSMUST00000000449
AA Change: M217K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: M217K

ZnF_C3H1 2 28 5.02e-6 SMART
ZnF_C3H1 32 57 1.75e-5 SMART
low complexity region 58 85 N/A INTRINSIC
ZnF_C3H1 165 191 2.79e-4 SMART
RING 238 291 5.82e-6 SMART
ZnF_C3H1 322 349 5.5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205248
Meta Mutation Damage Score 0.4492 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,338,312 (GRCm39) V709E probably damaging Het
Ankrd33b C T 15: 31,325,231 (GRCm39) probably null Het
Apaf1 T C 10: 90,827,425 (GRCm39) T1202A possibly damaging Het
Apip G T 2: 102,922,812 (GRCm39) C210F probably benign Het
Chd9 A T 8: 91,659,550 (GRCm39) H170L probably benign Het
Clec16a T C 16: 10,378,015 (GRCm39) probably null Het
Ep300 T A 15: 81,500,935 (GRCm39) probably benign Het
Etl4 C T 2: 20,748,384 (GRCm39) H39Y probably damaging Het
Gdap1l1 A T 2: 163,293,427 (GRCm39) I218F probably damaging Het
Gm5141 A T 13: 62,922,252 (GRCm39) C306S probably damaging Het
Gm9961 C T 16: 11,748,336 (GRCm39) noncoding transcript Het
Gpr27 C T 6: 99,670,619 (GRCm39) S327L possibly damaging Het
Hectd3 A C 4: 116,856,005 (GRCm39) T435P probably damaging Het
Hs3st1 T A 5: 39,772,133 (GRCm39) Q170L possibly damaging Het
Hykk T C 9: 54,828,110 (GRCm39) probably null Het
Lilra5 T C 7: 4,241,338 (GRCm39) S92P possibly damaging Het
Lrig1 A T 6: 94,593,426 (GRCm39) N418K probably damaging Het
Miga1 A G 3: 152,023,356 (GRCm39) F232L probably benign Het
Myh7b A T 2: 155,474,316 (GRCm39) Q1677L probably damaging Het
N4bp1 T C 8: 87,579,867 (GRCm39) E645G probably damaging Het
Nckap5 T C 1: 125,842,752 (GRCm39) K1752E probably damaging Het
Nek1 A G 8: 61,507,770 (GRCm39) probably null Het
Ntng1 T C 3: 110,051,202 (GRCm39) probably benign Het
Nup133 A G 8: 124,644,176 (GRCm39) V730A probably benign Het
Or2t44 T A 11: 58,677,063 (GRCm39) M1K probably null Het
Or51v14 T A 7: 103,261,386 (GRCm39) H58L probably damaging Het
Paqr6 C T 3: 88,275,205 (GRCm39) P213S probably damaging Het
Pign A T 1: 105,512,802 (GRCm39) V627D possibly damaging Het
Rasal1 T A 5: 120,797,685 (GRCm39) V139E probably damaging Het
Scgb1b24 G T 7: 33,443,577 (GRCm39) A79S possibly damaging Het
Slc25a28 T C 19: 43,653,031 (GRCm39) D210G probably benign Het
Slc38a3 A T 9: 107,532,353 (GRCm39) I393N possibly damaging Het
Slc41a2 T C 10: 83,090,790 (GRCm39) N465D probably damaging Het
Slc5a5 G A 8: 71,343,822 (GRCm39) T160I probably damaging Het
Smarca2 C T 19: 26,608,292 (GRCm39) A117V probably damaging Het
Sorcs2 C T 5: 36,219,931 (GRCm39) R371H probably damaging Het
Taf4 A G 2: 179,565,780 (GRCm39) S872P probably damaging Het
Tdrd3 G T 14: 87,743,690 (GRCm39) C540F probably benign Het
Thumpd1 A T 7: 119,319,897 (GRCm39) L23Q probably benign Het
Top1 A T 2: 160,540,061 (GRCm39) Y213F probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Unc79 C A 12: 103,108,991 (GRCm39) A2005D possibly damaging Het
Upb1 T C 10: 75,274,005 (GRCm39) L344P probably damaging Het
Vmn1r72 T A 7: 11,403,579 (GRCm39) S290C probably benign Het
Vmn2r103 A G 17: 20,013,866 (GRCm39) I219M possibly damaging Het
Wapl A G 14: 34,451,152 (GRCm39) T729A probably damaging Het
Washc5 C T 15: 59,227,783 (GRCm39) R393H probably damaging Het
Other mutations in Mkrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Mkrn2 APN 6 115,588,750 (GRCm39) nonsense probably null
IGL02996:Mkrn2 APN 6 115,588,868 (GRCm39) missense probably benign 0.00
ANU18:Mkrn2 UTSW 6 115,588,750 (GRCm39) nonsense probably null
IGL03134:Mkrn2 UTSW 6 115,590,496 (GRCm39) missense probably damaging 1.00
R0086:Mkrn2 UTSW 6 115,590,296 (GRCm39) missense possibly damaging 0.87
R0731:Mkrn2 UTSW 6 115,591,612 (GRCm39) missense probably damaging 0.96
R1740:Mkrn2 UTSW 6 115,590,330 (GRCm39) missense probably damaging 1.00
R1992:Mkrn2 UTSW 6 115,586,562 (GRCm39) missense probably damaging 1.00
R2036:Mkrn2 UTSW 6 115,588,875 (GRCm39) missense probably benign 0.28
R4291:Mkrn2 UTSW 6 115,594,395 (GRCm39) missense possibly damaging 0.73
R4723:Mkrn2 UTSW 6 115,588,811 (GRCm39) missense probably damaging 1.00
R6816:Mkrn2 UTSW 6 115,588,689 (GRCm39) missense probably damaging 1.00
R7970:Mkrn2 UTSW 6 115,594,269 (GRCm39) missense probably damaging 1.00
R9010:Mkrn2 UTSW 6 115,591,583 (GRCm39) missense possibly damaging 0.94
R9035:Mkrn2 UTSW 6 115,594,681 (GRCm39) missense possibly damaging 0.51
R9282:Mkrn2 UTSW 6 115,591,534 (GRCm39) critical splice acceptor site probably null
R9525:Mkrn2 UTSW 6 115,587,486 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-03-15