Incidental Mutation 'R3118:Mkrn3'
ID 263126
Institutional Source Beutler Lab
Gene Symbol Mkrn3
Ensembl Gene ENSMUSG00000070527
Gene Name makorin, ring finger protein, 3
Synonyms D7H15S9-1, Zfp127
MMRRC Submission 040591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3118 (G1)
Quality Score 205
Status Not validated
Chromosome 7
Chromosomal Location 62067341-62069887 bp(-) (GRCm39)
Type of Mutation small deletion (4 aa in frame mutation)
DNA Base Change (assembly) CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA to CGGCATTGGCACTGGCATTGGCA at 62068962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094340]
AlphaFold Q60764
Predicted Effect probably benign
Transcript: ENSMUST00000094340
SMART Domains Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T G 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ccdc125 T C 13: 100,826,827 (GRCm39) V228A possibly damaging Het
Chrna2 A G 14: 66,388,442 (GRCm39) I486V probably damaging Het
Cpxm1 T C 2: 130,235,493 (GRCm39) T500A possibly damaging Het
Crebbp G A 16: 3,927,062 (GRCm39) R628C probably damaging Het
Cxcl1 T A 5: 91,039,454 (GRCm39) probably null Het
Dab1 G A 4: 104,537,266 (GRCm39) probably null Het
Ddx11 T A 17: 66,456,272 (GRCm39) M751K probably damaging Het
Ece1 A G 4: 137,675,855 (GRCm39) T410A probably benign Het
Eml5 C T 12: 98,831,753 (GRCm39) V402I probably damaging Het
Fam241b A T 10: 61,944,635 (GRCm39) *121R probably null Het
Fras1 G A 5: 96,919,571 (GRCm39) A3595T probably damaging Het
Gpr149 A G 3: 62,502,443 (GRCm39) V471A probably benign Het
Lemd3 A G 10: 120,783,156 (GRCm39) S557P probably benign Het
Mmp7 T C 9: 7,697,693 (GRCm39) Y243H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pak6 T C 2: 118,520,222 (GRCm39) V71A probably damaging Het
Pira2 T A 7: 3,844,676 (GRCm39) R452* probably null Het
Plxna1 A G 6: 89,333,958 (GRCm39) S224P possibly damaging Het
Prpf39 T C 12: 65,104,651 (GRCm39) V572A possibly damaging Het
Prss12 A T 3: 123,298,976 (GRCm39) T583S possibly damaging Het
Rgs10 T C 7: 128,004,955 (GRCm39) E65G probably damaging Het
Rnf19a T A 15: 36,242,045 (GRCm39) K665* probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tbx15 T C 3: 99,259,470 (GRCm39) I447T probably damaging Het
Tmem135 A G 7: 88,797,005 (GRCm39) S364P probably benign Het
Ugt1a9 T C 1: 87,998,562 (GRCm39) V4A probably benign Het
Zfp595 T C 13: 67,468,963 (GRCm39) I95M probably benign 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
R4593:Mkrn3 UTSW 7 62,068,552 (GRCm39) nonsense probably null
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'- GCACAGCAAAAGAGAGTTCC -3'
(R):5'- GCCGAGATTGACAATGCAAGC -3'

Sequencing Primer
(F):5'- AAGAGAGTTCCATATCTCTCTCGTG -3'
(R):5'- AAGCCTTGCAGCAGGTG -3'
Posted On 2015-02-05