Incidental Mutation 'IGL03134:Mkrn2'
ID 453162
Institutional Source Beutler Lab
Gene Symbol Mkrn2
Ensembl Gene ENSMUSG00000000439
Gene Name makorin, ring finger protein, 2
Synonyms 2610002L04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03134 (G1)
Quality Score 79
Status Validated
Chromosome 6
Chromosomal Location 115578844-115598647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115590496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 284 (I284N)
Ref Sequence ENSEMBL: ENSMUSP00000000449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000449]
AlphaFold Q9ERV1
Predicted Effect probably damaging
Transcript: ENSMUST00000000449
AA Change: I284N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: I284N

DomainStartEndE-ValueType
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 0.6741 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (66/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414J04Rik A T 11: 21,457,249 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Afdn C T 17: 14,066,548 (GRCm39) T580I probably benign Het
Ankfy1 G T 11: 72,603,011 (GRCm39) L13F probably damaging Het
Arhgap12 T C 18: 6,111,936 (GRCm39) T143A probably benign Het
Arsi T G 18: 61,050,424 (GRCm39) W436G probably damaging Het
Bcl2l10 C T 9: 75,255,480 (GRCm39) T99M probably damaging Het
Cacna1a A G 8: 85,285,716 (GRCm39) Q740R probably damaging Het
Cacna1g A G 11: 94,350,651 (GRCm39) F398S probably damaging Het
Ccrl2 A C 9: 110,884,725 (GRCm39) Y258D probably damaging Het
Cemip T A 7: 83,648,445 (GRCm39) D38V probably damaging Het
Chd6 C G 2: 160,807,403 (GRCm39) C1937S possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col1a2 T G 6: 4,521,387 (GRCm39) probably benign Het
Col4a1 T C 8: 11,290,069 (GRCm39) probably null Het
Cops7b T A 1: 86,520,056 (GRCm39) L69Q probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Ddx3y T A Y: 1,278,949 (GRCm39) D163V possibly damaging Het
Dnajc19 A G 3: 34,132,884 (GRCm39) probably benign Het
Fhip2b T C 14: 70,826,149 (GRCm39) T288A possibly damaging Het
G2e3 T A 12: 51,410,813 (GRCm39) probably benign Het
Gimap7 A G 6: 48,700,435 (GRCm39) N7S probably benign Het
Gkap1 G A 13: 58,411,746 (GRCm39) probably benign Het
Gm3404 G A 5: 146,463,706 (GRCm39) R117Q probably benign Het
Herc1 T TN 9: 66,341,345 (GRCm39) probably benign Homo
Homer3 T C 8: 70,738,985 (GRCm39) Y115H probably benign Het
Ighv10-1 T A 12: 114,442,689 (GRCm39) M99L probably benign Het
Kdm2b A C 5: 123,070,737 (GRCm39) S398R probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mettl25 G A 10: 105,661,888 (GRCm39) Q361* probably null Het
Mmp14 T A 14: 54,676,563 (GRCm39) N369K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myo6 C G 9: 80,199,749 (GRCm39) N1019K probably damaging Het
Myo7a C T 7: 97,705,974 (GRCm39) V1857I probably damaging Het
Nhsl3 A G 4: 129,116,280 (GRCm39) S783P possibly damaging Het
Nktr T C 9: 121,575,532 (GRCm39) S347P probably damaging Het
Nup210 T G 6: 91,007,172 (GRCm39) D548A probably damaging Het
Nup210l A G 3: 90,098,194 (GRCm39) Y1382C possibly damaging Het
Or14c41 G A 7: 86,235,220 (GRCm39) V246M probably damaging Het
Or1e23 T A 11: 73,407,941 (GRCm39) Y28F probably benign Het
Pax8 T C 2: 24,311,403 (GRCm39) probably benign Het
Pcdhgb7 A G 18: 37,884,935 (GRCm39) Y35C probably damaging Het
Pld1 A T 3: 28,083,316 (GRCm39) R145S probably benign Het
Pom121 G A 5: 135,410,935 (GRCm39) P741S unknown Het
Rarb T C 14: 16,436,910 (GRCm38) N204D probably damaging Het
Sdc3 A G 4: 130,548,815 (GRCm39) E337G probably benign Het
Serpina9 T C 12: 103,967,696 (GRCm39) K233R probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T A 6: 48,427,999 (GRCm39) M159K probably benign Het
Stxbp4 C A 11: 90,498,010 (GRCm39) R96S probably damaging Het
Tg A C 15: 66,612,567 (GRCm39) E375A probably damaging Het
Tmem176b A G 6: 48,815,287 (GRCm39) V2A probably benign Het
Toporsl G A 4: 52,610,281 (GRCm39) C58Y probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vav3 T C 3: 109,470,410 (GRCm39) probably benign Het
Zfp180 T A 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Zfp407 C T 18: 84,228,080 (GRCm39) S1843N 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
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
R6292:Mkrn2 UTSW 6 115,590,295 (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
(F):5'- TCCTGGGATCTTGGCCAAAG -3'
(R):5'- AGGTAGACATGACAACTGTCC -3'

Sequencing Primer
(F):5'- CATTCTCAGATGTGTATGTCGAC -3'
(R):5'- TAGACATGACAACTGTCCATAAGG -3'
Posted On 2017-01-30