Incidental Mutation 'R4593:Mkrn3'
ID 344214
Institutional Source Beutler Lab
Gene Symbol Mkrn3
Ensembl Gene ENSMUSG00000070527
Gene Name makorin, ring finger protein, 3
Synonyms D7H15S9-1, Zfp127
MMRRC Submission 041809-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4593 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 62067341-62069887 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 62068552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 413 (W413*)
Ref Sequence ENSEMBL: ENSMUSP00000091898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094340]
AlphaFold Q60764
Predicted Effect probably null
Transcript: ENSMUST00000094340
AA Change: W413*
SMART Domains Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: W413*

DomainStartEndE-ValueType
low complexity region 9 25 N/A INTRINSIC
low complexity region 36 46 N/A INTRINSIC
ZnF_C3H1 92 118 7.31e-8 SMART
low complexity region 156 172 N/A INTRINSIC
low complexity region 205 220 N/A INTRINSIC
ZnF_C3H1 275 300 3.95e-4 SMART
RING 347 400 5.14e-7 SMART
low complexity region 415 422 N/A INTRINSIC
ZnF_C3H1 432 458 1.16e-1 SMART
Pfam:MKRN1_C 467 542 1.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207232
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (45/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Atm G T 9: 53,364,894 (GRCm39) A8E possibly damaging Het
Atxn3 A T 12: 101,889,436 (GRCm39) M333K probably benign Het
Cd86 A G 16: 36,426,918 (GRCm39) *310R probably null Het
Cyp2s1 ACAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAG 7: 25,515,867 (GRCm39) probably benign Het
Dgat1 C A 15: 76,388,889 (GRCm39) R111S probably damaging Het
Dner T C 1: 84,673,449 (GRCm39) M1V probably null Het
Dnhd1 G A 7: 105,364,653 (GRCm39) D4240N probably benign Het
Emp3 A G 7: 45,568,777 (GRCm39) L27P probably damaging Het
Glra3 G T 8: 56,393,916 (GRCm39) G9V probably damaging Het
Gpr149 A T 3: 62,510,151 (GRCm39) probably benign Het
Ighv1-9 T C 12: 114,547,224 (GRCm39) T105A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Ldhd T C 8: 112,355,996 (GRCm39) D129G probably damaging Het
Lnpep A G 17: 17,799,289 (GRCm39) V122A probably benign Het
Lrrc37a A G 11: 103,389,795 (GRCm39) Y1877H possibly damaging Het
Med13l T C 5: 118,880,625 (GRCm39) L1239P probably damaging Het
Mib1 T C 18: 10,768,191 (GRCm39) L480S possibly damaging Het
Myo7b A G 18: 32,146,428 (GRCm39) V119A possibly damaging Het
Nexn T A 3: 151,958,553 (GRCm39) R113S probably damaging Het
Npas3 A T 12: 54,115,280 (GRCm39) Q703L probably benign Het
Npr2 A G 4: 43,647,323 (GRCm39) probably benign Het
Nub1 A G 5: 24,914,119 (GRCm39) Y624C probably damaging Het
Obscn A C 11: 59,024,075 (GRCm39) S532A probably damaging Het
Or1e33 T A 11: 73,738,140 (GRCm39) K270N probably benign Het
Or9g20 A G 2: 85,630,008 (GRCm39) L202P probably damaging Het
Panx2 T C 15: 88,952,118 (GRCm39) I195T probably damaging Het
Parp11 T C 6: 127,451,262 (GRCm39) I104T probably benign Het
Pkd1l1 G T 11: 8,851,253 (GRCm39) D726E probably damaging Het
Pom121l2 C T 13: 22,168,623 (GRCm39) R965W probably damaging Het
Prrc2c T C 1: 162,525,101 (GRCm39) K502E probably damaging Het
Rasa1 T C 13: 85,386,340 (GRCm39) probably null Het
Sva T C 6: 42,019,592 (GRCm39) S151P possibly damaging Het
Svep1 T C 4: 58,091,944 (GRCm39) N1564D possibly damaging Het
Unk T C 11: 115,939,882 (GRCm39) I129T probably benign Het
Urb1 T C 16: 90,584,332 (GRCm39) D550G probably damaging Het
Vmn1r194 T A 13: 22,428,461 (GRCm39) M26K possibly damaging Het
Vmn1r59 A T 7: 5,457,686 (GRCm39) F25I possibly damaging Het
Vmn1r88 A G 7: 12,911,769 (GRCm39) K42E probably damaging Het
Zbtb24 A G 10: 41,327,953 (GRCm39) R280G possibly damaging Het
Other mutations in Mkrn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0558:Mkrn3 UTSW 7 62,068,612 (GRCm39) missense probably benign 0.29
R1885:Mkrn3 UTSW 7 62,068,486 (GRCm39) missense probably benign 0.09
R1886:Mkrn3 UTSW 7 62,068,486 (GRCm39) missense probably benign 0.09
R2904:Mkrn3 UTSW 7 62,068,207 (GRCm39) missense probably benign 0.38
R3117:Mkrn3 UTSW 7 62,068,962 (GRCm39) small deletion probably benign
R3118:Mkrn3 UTSW 7 62,068,962 (GRCm39) small deletion probably benign
R4654:Mkrn3 UTSW 7 62,069,452 (GRCm39) missense probably damaging 1.00
R4735:Mkrn3 UTSW 7 62,069,452 (GRCm39) missense probably damaging 1.00
R5528:Mkrn3 UTSW 7 62,068,735 (GRCm39) missense possibly damaging 0.95
R5932:Mkrn3 UTSW 7 62,068,655 (GRCm39) missense probably damaging 1.00
R5950:Mkrn3 UTSW 7 62,069,467 (GRCm39) missense probably damaging 1.00
R6120:Mkrn3 UTSW 7 62,069,282 (GRCm39) missense probably benign 0.00
R6618:Mkrn3 UTSW 7 62,068,781 (GRCm39) missense probably benign 0.25
R6951:Mkrn3 UTSW 7 62,068,881 (GRCm39) missense possibly damaging 0.68
R7009:Mkrn3 UTSW 7 62,069,366 (GRCm39) missense probably benign 0.05
R7227:Mkrn3 UTSW 7 62,069,415 (GRCm39) missense probably benign 0.03
R7228:Mkrn3 UTSW 7 62,069,415 (GRCm39) missense probably benign 0.03
R7286:Mkrn3 UTSW 7 62,068,675 (GRCm39) missense probably benign 0.15
R7339:Mkrn3 UTSW 7 62,069,530 (GRCm39) missense probably benign 0.22
R8268:Mkrn3 UTSW 7 62,068,270 (GRCm39) missense probably damaging 1.00
R8366:Mkrn3 UTSW 7 62,069,543 (GRCm39) missense probably benign 0.21
R9390:Mkrn3 UTSW 7 62,069,288 (GRCm39) missense probably benign 0.17
X0025:Mkrn3 UTSW 7 62,069,521 (GRCm39) missense probably damaging 1.00
Z1176:Mkrn3 UTSW 7 62,069,558 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGCACAGGCTCCAAAACTTG -3'
(R):5'- GTCTATGAGAAAGCTGACCCCAG -3'

Sequencing Primer
(F):5'- AACTTGATGCCAGTATGCGC -3'
(R):5'- CTGACCCCAGCGACCGC -3'
Posted On 2015-09-25