Incidental Mutation 'IGL03235:Mkrn1'
ID 414032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mkrn1
Ensembl Gene ENSMUSG00000029922
Gene Name makorin, ring finger protein, 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03235
Quality Score
Status
Chromosome 6
Chromosomal Location 39374738-39397396 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39378264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 289 (Y289C)
Ref Sequence ENSEMBL: ENSMUSP00000084244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031985] [ENSMUST00000051671] [ENSMUST00000114822] [ENSMUST00000114823] [ENSMUST00000146785]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031985
AA Change: Y289C

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: Y289C

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
low complexity region 35 54 N/A INTRINSIC
ZnF_C3H1 55 81 3.86e-7 SMART
ZnF_C3H1 85 110 8.27e-7 SMART
low complexity region 122 142 N/A INTRINSIC
ZnF_C3H1 208 234 1.13e-4 SMART
RING 281 334 2.09e-7 SMART
low complexity region 349 363 N/A INTRINSIC
ZnF_C3H1 366 392 2.53e-2 SMART
Pfam:MKRN1_C 400 479 9.1e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000051671
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: Y289C

DomainStartEndE-ValueType
low complexity region 2 30 N/A INTRINSIC
low complexity region 35 54 N/A INTRINSIC
ZnF_C3H1 55 81 3.86e-7 SMART
ZnF_C3H1 85 110 8.27e-7 SMART
low complexity region 122 142 N/A INTRINSIC
ZnF_C3H1 208 234 1.13e-4 SMART
RING 281 328 4.72e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114822
SMART Domains Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922

DomainStartEndE-ValueType
SCOP:d1gkub1 2 30 3e-3 SMART
low complexity region 35 54 N/A INTRINSIC
ZnF_C3H1 55 81 3.86e-7 SMART
ZnF_C3H1 85 110 8.27e-7 SMART
low complexity region 122 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114823
AA Change: Y225C

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: Y225C

DomainStartEndE-ValueType
ZnF_C3H1 1 17 6.26e1 SMART
ZnF_C3H1 21 46 8.27e-7 SMART
low complexity region 58 78 N/A INTRINSIC
ZnF_C3H1 144 170 1.13e-4 SMART
RING 217 270 2.09e-7 SMART
low complexity region 285 299 N/A INTRINSIC
ZnF_C3H1 302 328 2.53e-2 SMART
low complexity region 378 395 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122874
Predicted Effect unknown
Transcript: ENSMUST00000122996
AA Change: Y303C
SMART Domains Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: Y303C

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
ZnF_C3H1 75 96 4.11e-2 SMART
ZnF_C3H1 100 125 8.27e-7 SMART
low complexity region 137 157 N/A INTRINSIC
ZnF_C3H1 223 249 1.13e-4 SMART
RING 296 343 4.72e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000150575
AA Change: Y59C
SMART Domains Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922
AA Change: Y59C

DomainStartEndE-ValueType
RING 52 105 2.09e-7 SMART
low complexity region 170 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146785
SMART Domains Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922

DomainStartEndE-ValueType
ZnF_C3H1 34 59 1.56e-2 SMART
ZnF_C3H1 63 88 8.27e-7 SMART
low complexity region 100 120 N/A INTRINSIC
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 protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and fertile, and show normal kidney morphology, eyelid development, and skeletal morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,232,210 (GRCm39) N461S probably benign Het
Baz1a A T 12: 54,945,320 (GRCm39) V1345E probably damaging Het
Ccdc60 T A 5: 116,269,205 (GRCm39) M472L probably benign Het
Cenpf C T 1: 189,416,124 (GRCm39) R67K probably damaging Het
Cfap45 A T 1: 172,366,060 (GRCm39) R304S possibly damaging Het
D5Ertd579e T A 5: 36,776,172 (GRCm39) probably benign Het
Eefsec T C 6: 88,353,357 (GRCm39) D104G probably damaging Het
Eif2ak4 A G 2: 118,273,621 (GRCm39) S849G probably damaging Het
Frem1 G A 4: 82,938,992 (GRCm39) T30I possibly damaging Het
Glt28d2 A T 3: 85,779,109 (GRCm39) H121Q possibly damaging Het
Hacl1 C T 14: 31,352,995 (GRCm39) W106* probably null Het
Marchf6 A G 15: 31,486,141 (GRCm39) S376P probably damaging Het
Msl2 A G 9: 100,977,967 (GRCm39) T114A probably benign Het
Ntrk3 C A 7: 77,842,340 (GRCm39) K829N probably damaging Het
Or4b1d A T 2: 89,969,414 (GRCm39) V23E possibly damaging Het
Pcdhgc5 A T 18: 37,953,151 (GRCm39) I142F probably damaging Het
Pip5kl1 A G 2: 32,468,166 (GRCm39) R153G probably damaging Het
Rgs19 T C 2: 181,331,525 (GRCm39) K93R probably benign Het
Slc36a4 T A 9: 15,634,845 (GRCm39) V129E probably damaging Het
Spata13 T C 14: 60,989,241 (GRCm39) L299P probably damaging Het
Tle2 T C 10: 81,422,085 (GRCm39) S353P probably benign Het
Trav13d-4 T C 14: 53,995,298 (GRCm39) V84A probably benign Het
Vmn1r8 A T 6: 57,013,746 (GRCm39) K266* probably null Het
Wwtr1 C A 3: 57,384,954 (GRCm39) V255F probably benign Het
Other mutations in Mkrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Mkrn1 APN 6 39,382,847 (GRCm39) missense possibly damaging 0.80
R0127:Mkrn1 UTSW 6 39,376,209 (GRCm39) missense probably benign 0.19
R0445:Mkrn1 UTSW 6 39,381,788 (GRCm39) missense probably benign 0.28
R1109:Mkrn1 UTSW 6 39,376,268 (GRCm39) missense probably damaging 1.00
R1366:Mkrn1 UTSW 6 39,382,851 (GRCm39) missense probably benign 0.02
R1783:Mkrn1 UTSW 6 39,377,390 (GRCm39) missense probably null
R2002:Mkrn1 UTSW 6 39,382,737 (GRCm39) missense probably benign 0.00
R4671:Mkrn1 UTSW 6 39,382,691 (GRCm39) missense probably damaging 1.00
R4889:Mkrn1 UTSW 6 39,396,939 (GRCm39) unclassified probably benign
R7948:Mkrn1 UTSW 6 39,377,344 (GRCm39) missense probably benign 0.17
R8099:Mkrn1 UTSW 6 39,387,031 (GRCm39) missense probably benign 0.40
R8192:Mkrn1 UTSW 6 39,376,289 (GRCm39) missense probably damaging 1.00
R8759:Mkrn1 UTSW 6 39,376,344 (GRCm39) nonsense probably null
R9223:Mkrn1 UTSW 6 39,378,183 (GRCm39) missense possibly damaging 0.91
R9260:Mkrn1 UTSW 6 39,382,530 (GRCm39) unclassified probably benign
R9554:Mkrn1 UTSW 6 39,376,838 (GRCm39) missense probably benign 0.06
RF016:Mkrn1 UTSW 6 39,396,925 (GRCm39) missense
Z1088:Mkrn1 UTSW 6 39,377,390 (GRCm39) missense probably null
Z1176:Mkrn1 UTSW 6 39,377,390 (GRCm39) missense probably null
Z1177:Mkrn1 UTSW 6 39,377,390 (GRCm39) missense probably null
Posted On 2016-08-02