Incidental Mutation 'R6951:Mkrn3'
ID 541264
Institutional Source Beutler Lab
Gene Symbol Mkrn3
Ensembl Gene ENSMUSG00000070527
Gene Name makorin, ring finger protein, 3
Synonyms D7H15S9-1, Zfp127
MMRRC Submission 045063-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6951 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 62067341-62069887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62068881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 303 (D303E)
Ref Sequence ENSEMBL: ENSMUSP00000091898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094340]
AlphaFold Q60764
Predicted Effect possibly damaging
Transcript: ENSMUST00000094340
AA Change: D303E

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091898
Gene: ENSMUSG00000070527
AA Change: D303E

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
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34a A G 3: 96,505,738 (GRCm39) N314S possibly damaging Het
Arhgef3 A T 14: 26,865,975 (GRCm39) probably benign Het
Bmp1 T C 14: 70,746,298 (GRCm39) R114G probably benign Het
Cenpf A G 1: 189,385,989 (GRCm39) L2097P probably damaging Het
Cgas A G 9: 78,349,840 (GRCm39) V174A probably damaging Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnase2a A T 8: 85,636,254 (GRCm39) N130I possibly damaging Het
Dpp10 C T 1: 123,269,379 (GRCm39) V677M possibly damaging Het
Dsp G A 13: 38,351,622 (GRCm39) C147Y possibly damaging Het
Ecpas A G 4: 58,853,114 (GRCm39) probably null Het
Esyt2 A G 12: 116,287,750 (GRCm39) T223A probably benign Het
Fndc5 G A 4: 129,032,573 (GRCm39) V59I possibly damaging Het
Fsip2 A G 2: 82,812,293 (GRCm39) T2871A possibly damaging Het
H2-Eb1 A T 17: 34,528,831 (GRCm39) R121* probably null Het
Hydin A G 8: 111,124,757 (GRCm39) I589V probably benign Het
Kitl A G 10: 99,887,714 (GRCm39) I48V probably damaging Het
Large1 A G 8: 73,843,047 (GRCm39) S159P probably damaging Het
Lrba T C 3: 86,653,180 (GRCm39) L2570P probably benign Het
Mag G A 7: 30,610,858 (GRCm39) T128I possibly damaging Het
Myo9a A G 9: 59,802,051 (GRCm39) D1951G probably damaging Het
Nup85 C T 11: 115,473,781 (GRCm39) T565I possibly damaging Het
Or5l13 T C 2: 87,780,323 (GRCm39) I85V possibly damaging Het
Or8b1d A G 9: 38,558,170 (GRCm39) S217P probably damaging Het
Or8b43 A G 9: 38,360,234 (GRCm39) D22G probably benign Het
Or8k31-ps1 T C 2: 86,355,993 (GRCm39) H176R probably damaging Het
Pdzrn3 A T 6: 101,131,153 (GRCm39) probably null Het
Picalm T A 7: 89,840,583 (GRCm39) N434K probably damaging Het
Platr25 A C 13: 62,853,562 (GRCm39) D77E probably benign Het
Prr22 A T 17: 57,079,028 (GRCm39) R394* probably null Het
Psg23 A T 7: 18,348,636 (GRCm39) L57Q probably damaging Het
Rap1gap2 G A 11: 74,375,774 (GRCm39) S44L possibly damaging Het
Rffl A G 11: 82,736,576 (GRCm39) probably null Het
Stox2 G A 8: 47,656,167 (GRCm39) T103I probably damaging Het
Swt1 T C 1: 151,273,019 (GRCm39) N543S possibly damaging Het
Tep1 C T 14: 51,071,370 (GRCm39) probably null Het
Tln2 A G 9: 67,165,767 (GRCm39) Y1023H probably damaging Het
Tssk5 C A 15: 76,257,096 (GRCm39) R262L possibly damaging Het
Ttn C T 2: 76,710,986 (GRCm39) probably benign Het
Ubtfl1 A T 9: 18,320,873 (GRCm39) I134F probably benign Het
Unc80 T C 1: 66,687,670 (GRCm39) F2351S possibly damaging Het
Vps13a A T 19: 16,701,104 (GRCm39) D688E 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
R3118: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
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'- GGTCAGCTTTCTCATAGACCACC -3'
(R):5'- TTGTTCCTGGACAGCCTTAC -3'

Sequencing Primer
(F):5'- TAGACCACCTCCATGCAGATG -3'
(R):5'- TTACCGAGGTCGCATGGTC -3'
Posted On 2018-11-28