Incidental Mutation 'ANU18:Mkrn2'
ID 262538
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 # ANU18
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 115578844-115598647 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 115588750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 164 (Y164*)
Ref Sequence ENSEMBL: ENSMUSP00000000449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000449]
AlphaFold Q9ERV1
Predicted Effect probably null
Transcript: ENSMUST00000000449
AA Change: Y164*
SMART Domains Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439
AA Change: Y164*

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: ENSMUST00000204409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205248
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,164,181 (GRCm39) probably null Het
Acacb A T 5: 114,384,559 (GRCm39) I2238L probably benign Het
Aldh1l2 T C 10: 83,358,710 (GRCm39) Y95C probably damaging Het
Asxl2 A G 12: 3,551,425 (GRCm39) T1056A probably damaging Het
B4galnt1 A G 10: 127,005,648 (GRCm39) T250A possibly damaging Het
Cela3b A T 4: 137,151,154 (GRCm39) probably null Het
Chst3 T C 10: 60,021,654 (GRCm39) T398A probably damaging Het
Cngb3 A G 4: 19,425,625 (GRCm39) T478A probably damaging Het
Cyp4a10 T C 4: 115,375,652 (GRCm39) L45P probably damaging Het
D630003M21Rik A G 2: 158,059,568 (GRCm39) S111P probably benign Het
Defb21 A G 2: 152,416,671 (GRCm39) E49G possibly damaging Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dnmbp A G 19: 43,890,793 (GRCm39) S325P probably benign Het
Fam91a1 T C 15: 58,314,720 (GRCm39) F534L probably damaging Het
Fermt2 T C 14: 45,702,320 (GRCm39) E488G probably damaging Het
Filip1 T C 9: 79,726,462 (GRCm39) D719G possibly damaging Het
Gad1-ps A G 10: 99,281,013 (GRCm39) noncoding transcript Het
Glra3 C A 8: 56,393,997 (GRCm39) A36E probably benign Het
Hnrnpm C T 17: 33,888,142 (GRCm39) probably null Het
Lct T A 1: 128,235,784 (GRCm39) R408* probably null Het
Lrrk2 T A 15: 91,651,542 (GRCm39) Y1733N probably damaging Het
Mindy1 T C 3: 95,195,701 (GRCm39) L148P probably damaging Het
Msra T C 14: 64,447,884 (GRCm39) Y135C probably damaging Het
Ndst3 C T 3: 123,342,565 (GRCm39) A749T probably damaging Het
Ngdn G T 14: 55,254,571 (GRCm39) A41S probably benign Het
Nlrp12 A T 7: 3,288,722 (GRCm39) S597T probably damaging Het
Or5b99 A T 19: 12,976,781 (GRCm39) I144F probably damaging Het
Pabpc6 A G 17: 9,886,899 (GRCm39) S551P probably benign Het
Plekhg5 C T 4: 152,197,010 (GRCm39) A752V probably benign Het
Prpf4b T C 13: 35,068,274 (GRCm39) S368P probably benign Het
Pus7 A G 5: 23,951,422 (GRCm39) probably null Het
Rab40b C G 11: 121,248,788 (GRCm39) V156L probably benign Het
Slc9a9 T A 9: 94,937,512 (GRCm39) S455T probably benign Het
Tmem26 A T 10: 68,614,436 (GRCm39) N284Y probably damaging Het
Tmem87a T C 2: 120,211,250 (GRCm39) I232V probably benign Het
Trpm2 A G 10: 77,759,818 (GRCm39) L1106P probably damaging Het
Tshz1 A G 18: 84,032,786 (GRCm39) Y541H probably damaging Het
Zfp213 G T 17: 23,780,391 (GRCm39) A43D probably benign Het
Zfp365 A G 10: 67,745,184 (GRCm39) V198A probably damaging Het
Zfp618 G A 4: 63,051,063 (GRCm39) V615M 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
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
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'- AGGAGCCCCTGTGTTCTGTTCATC -3'
(R):5'- AGACTCCTGAATGACTCCGTCCTG -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtATTTTGTGTTGAG -3'
(R):5'- CAGGCTTCTTCAAATGATTTCATGC -3'
Posted On 2015-02-04