Incidental Mutation 'IGL01301:Mkrn2'
ID73242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mkrn2
Ensembl Gene ENSMUSG00000000439
Gene Namemakorin, ring finger protein, 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01301
Quality Score
Status
Chromosome6
Chromosomal Location115601902-115622624 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 115611789 bp
ZygosityHeterozygous
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]
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 14,943,919 probably null Het
Acacb A T 5: 114,246,498 I2238L probably benign Het
Aldh1l2 T C 10: 83,522,846 Y95C probably damaging Het
Asxl2 A G 12: 3,501,425 T1056A probably damaging Het
B4galnt1 A G 10: 127,169,779 T250A possibly damaging Het
Cela3b A T 4: 137,423,843 probably null Het
Chst3 T C 10: 60,185,832 T398A probably damaging Het
Cngb3 A G 4: 19,425,625 T478A probably damaging Het
Cyp4a10 T C 4: 115,518,455 L45P probably damaging Het
Defb21 A G 2: 152,574,751 E49G possibly damaging Het
Dnajc1 T C 2: 18,308,834 T159A probably damaging Het
Dnmbp A G 19: 43,902,354 S325P probably benign Het
Fam91a1 T C 15: 58,442,871 F534L probably damaging Het
Fermt2 T C 14: 45,464,863 E488G probably damaging Het
Filip1 T C 9: 79,819,180 D719G possibly damaging Het
Gad1-ps A G 10: 99,445,151 noncoding transcript Het
Glra3 C A 8: 55,940,962 A36E probably benign Het
Gm9884 T A 1: 25,830,648 probably benign Het
Hectd2 T C 19: 36,569,370 probably benign Het
Hnrnpm C T 17: 33,669,168 probably null Het
Lrrk2 T A 15: 91,767,339 Y1733N probably damaging Het
Mindy1 T C 3: 95,288,390 L148P probably damaging Het
Msra T C 14: 64,210,435 Y135C probably damaging Het
Ndst3 C T 3: 123,548,916 A749T probably damaging Het
Ngdn G T 14: 55,017,114 A41S probably benign Het
Nlrp12 A T 7: 3,240,092 S597T probably damaging Het
Olfr1451 A T 19: 12,999,417 I144F probably damaging Het
Pabpc6 A G 17: 9,667,970 S551P probably benign Het
Plekhg5 C T 4: 152,112,553 A752V probably benign Het
Prpf4b T C 13: 34,884,291 S368P probably benign Het
Pus7 A G 5: 23,746,424 probably null Het
Rad23b T C 4: 55,366,774 probably benign Het
Rgs13 T C 1: 144,171,414 probably benign Het
Sfpq T C 4: 127,026,760 probably benign Het
Slc9a9 T A 9: 95,055,459 S455T probably benign Het
Slco1a1 A G 6: 141,932,530 probably benign Het
Tmem26 A T 10: 68,778,606 N284Y probably damaging Het
Tmem87a T C 2: 120,380,769 I232V probably benign Het
Trpm2 A G 10: 77,923,984 L1106P probably damaging Het
Vmn1r18 T C 6: 57,389,667 probably benign Het
Zfp213 G T 17: 23,561,417 A43D probably benign Het
Zfp365 A G 10: 67,909,354 V198A probably damaging Het
Zfp395 T A 14: 65,394,751 probably null Het
Zfp618 G A 4: 63,132,826 V615M probably damaging Het
Other mutations in Mkrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02996:Mkrn2 APN 6 115611907 missense probably benign 0.00
ANU18:Mkrn2 UTSW 6 115611789 nonsense probably null
IGL03134:Mkrn2 UTSW 6 115613535 missense probably damaging 1.00
R0086:Mkrn2 UTSW 6 115613335 missense possibly damaging 0.87
R0731:Mkrn2 UTSW 6 115614651 missense probably damaging 0.96
R1740:Mkrn2 UTSW 6 115613369 missense probably damaging 1.00
R1992:Mkrn2 UTSW 6 115609601 missense probably damaging 1.00
R2036:Mkrn2 UTSW 6 115611914 missense probably benign 0.28
R4291:Mkrn2 UTSW 6 115617434 missense possibly damaging 0.73
R4723:Mkrn2 UTSW 6 115611850 missense probably damaging 1.00
R6292:Mkrn2 UTSW 6 115613334 missense probably damaging 1.00
R6816:Mkrn2 UTSW 6 115611728 missense probably damaging 1.00
R7970:Mkrn2 UTSW 6 115617308 missense probably damaging 1.00
Posted On2013-10-07