Incidental Mutation 'R3117:Mkrn3'
ID 263094
Institutional Source Beutler Lab
Gene Symbol Mkrn3
Ensembl Gene ENSMUSG00000070527
Gene Name makorin, ring finger protein, 3
Synonyms D7H15S9-1, Zfp127
MMRRC Submission 040590-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3117 (G1)
Quality Score 217
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: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T C 9: 39,504,656 (GRCm39) T532A probably benign Het
Dglucy A G 12: 100,804,937 (GRCm39) S143G probably benign Het
Dlec1 G A 9: 118,972,971 (GRCm39) probably null Het
Fcho2 A C 13: 98,913,946 (GRCm39) I217S probably damaging Het
Filip1l T C 16: 57,327,095 (GRCm39) S42P probably benign Het
Fras1 G A 5: 96,919,571 (GRCm39) A3595T probably damaging Het
Hacd3 G T 9: 64,905,591 (GRCm39) D182E probably damaging Het
Hsfy2 C G 1: 56,676,265 (GRCm39) D91H probably damaging Het
Man1a T A 10: 53,906,890 (GRCm39) M295L probably damaging Het
Mlc1 T C 15: 88,860,731 (GRCm39) D93G probably damaging Het
Myo5c G A 9: 75,173,476 (GRCm39) probably null Het
Nlrc4 T C 17: 74,743,063 (GRCm39) I852V probably benign Het
Notch3 C T 17: 32,377,089 (GRCm39) C272Y probably damaging Het
Or7g35 A T 9: 19,496,237 (GRCm39) I135F probably damaging Het
Ovgp1 T C 3: 105,893,768 (GRCm39) probably benign Het
Pbld2 A G 10: 62,890,215 (GRCm39) T208A probably benign Het
Prpf39 T C 12: 65,104,651 (GRCm39) V572A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ttc3 G A 16: 94,243,422 (GRCm39) R1142Q possibly damaging Het
Ttc41 T C 10: 86,560,184 (GRCm39) M369T possibly damaging Het
Vwa3b G A 1: 37,148,158 (GRCm39) V437I 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
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
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'- CCGAGATTGACAATGCAAGCC -3'

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