Incidental Mutation 'IGL01921:Mkrn1'
ID180111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mkrn1
Ensembl Gene ENSMUSG00000029922
Gene Namemakorin, ring finger protein, 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01921
Quality Score
Status
Chromosome6
Chromosomal Location39397804-39420462 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39405913 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 99 (D99G)
Ref Sequence ENSEMBL: ENSMUSP00000123440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031985] [ENSMUST00000051671] [ENSMUST00000114822] [ENSMUST00000114823] [ENSMUST00000146785]
Predicted Effect probably benign
Transcript: ENSMUST00000031985
AA Change: D121G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000031985
Gene: ENSMUSG00000029922
AA Change: D121G

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 benign
Transcript: ENSMUST00000051671
AA Change: D121G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000084244
Gene: ENSMUSG00000029922
AA Change: D121G

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
AA Change: D121G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110470
Gene: ENSMUSG00000029922
AA Change: D121G

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: D57G

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000110471
Gene: ENSMUSG00000029922
AA Change: D57G

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: D135G
SMART Domains Protein: ENSMUSP00000115231
Gene: ENSMUSG00000029922
AA Change: D135G

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 possibly damaging
Transcript: ENSMUST00000146785
AA Change: D99G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123440
Gene: ENSMUSG00000029922
AA Change: D99G

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
Predicted Effect probably benign
Transcript: ENSMUST00000150575
SMART Domains Protein: ENSMUSP00000121563
Gene: ENSMUSG00000029922

DomainStartEndE-ValueType
RING 52 105 2.09e-7 SMART
low complexity region 170 191 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Mkrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03235:Mkrn1 APN 6 39401330 missense probably damaging 1.00
R0127:Mkrn1 UTSW 6 39399275 missense probably benign 0.19
R0445:Mkrn1 UTSW 6 39404854 missense probably benign 0.28
R1109:Mkrn1 UTSW 6 39399334 missense probably damaging 1.00
R1366:Mkrn1 UTSW 6 39405917 missense probably benign 0.02
R1783:Mkrn1 UTSW 6 39400456 missense probably null
R2002:Mkrn1 UTSW 6 39405803 missense probably benign 0.00
R4671:Mkrn1 UTSW 6 39405757 missense probably damaging 1.00
R4889:Mkrn1 UTSW 6 39420005 unclassified probably benign
R7948:Mkrn1 UTSW 6 39400410 missense probably benign 0.17
R8099:Mkrn1 UTSW 6 39410097 missense probably benign 0.40
R8192:Mkrn1 UTSW 6 39399355 missense probably damaging 1.00
RF016:Mkrn1 UTSW 6 39419991 missense
Z1088:Mkrn1 UTSW 6 39400456 missense probably null
Z1176:Mkrn1 UTSW 6 39400456 missense probably null
Z1177:Mkrn1 UTSW 6 39400456 missense probably null
Posted On2014-05-07