Incidental Mutation 'R3686:Zfp830'
ID 269536
Institutional Source Beutler Lab
Gene Symbol Zfp830
Ensembl Gene ENSMUSG00000046010
Gene Name zinc finger protein 830
Synonyms Omcg1, 2410003C20Rik, Ccdc16
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3686 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82655171-82656761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82656188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 331 (E331K)
Ref Sequence ENSEMBL: ENSMUSP00000056154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021040] [ENSMUST00000056677] [ENSMUST00000100722]
AlphaFold Q8R1N0
Predicted Effect probably benign
Transcript: ENSMUST00000021040
SMART Domains Protein: ENSMUSP00000021040
Gene: ENSMUSG00000020698

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 30 526 1.1e-161 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000056677
AA Change: E331K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010
AA Change: E331K

DomainStartEndE-ValueType
coiled coil region 13 40 N/A INTRINSIC
Blast:ZnF_U1 48 82 4e-10 BLAST
low complexity region 129 143 N/A INTRINSIC
low complexity region 156 167 N/A INTRINSIC
coiled coil region 303 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100722
SMART Domains Protein: ENSMUSP00000098288
Gene: ENSMUSG00000020698

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 4 486 9.7e-140 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality with failure of implantation, failure to hatch from the zona pellucida, impaired outgrowth of the inner cell mass and trophectoderm, and prolonged mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb16 T A 11: 102,159,885 (GRCm39) D79E probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
B230307C23Rik T A 16: 97,810,199 (GRCm39) N62K probably benign Het
B3galnt2 G A 13: 14,150,220 (GRCm39) probably null Het
Bnip2 T A 9: 69,906,432 (GRCm39) Y118N probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Cacna1g T C 11: 94,349,916 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdh4 T C 2: 179,422,160 (GRCm39) S95P probably benign Het
Ceacam5 G A 7: 17,494,748 (GRCm39) E919K possibly damaging Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Hr T A 14: 70,795,236 (GRCm39) N289K probably damaging Het
Hsp90ab1 A G 17: 45,880,214 (GRCm39) Y110H probably damaging Het
Map3k1 A G 13: 111,890,425 (GRCm39) V1258A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Nmd3 C T 3: 69,654,095 (GRCm39) R413C probably damaging Het
Or4k51 G T 2: 111,584,914 (GRCm39) V107F probably benign Het
Or56b2 A G 7: 104,337,599 (GRCm39) I126V probably benign Het
Pgm3 G T 9: 86,441,563 (GRCm39) P345T probably benign Het
Ptpn14 C A 1: 189,583,596 (GRCm39) D814E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Ros1 A T 10: 52,021,912 (GRCm39) V624E probably damaging Het
Sgo2b T C 8: 64,384,361 (GRCm39) K212E probably benign Het
Shisa2 T A 14: 59,867,228 (GRCm39) L160Q probably damaging Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Sycp2 T C 2: 178,016,177 (GRCm39) T762A probably benign Het
Tiam2 A G 17: 3,471,959 (GRCm39) K534E possibly damaging Het
Trdn A T 10: 33,344,185 (GRCm39) D633V probably benign Het
Ttn T C 2: 76,747,333 (GRCm39) Y4572C possibly damaging Het
Unc79 T A 12: 103,054,920 (GRCm39) N921K probably damaging Het
Vmn2r66 A G 7: 84,644,397 (GRCm39) V671A probably damaging Het
Wdr86 T A 5: 24,923,339 (GRCm39) T118S probably damaging Het
Zfp446 T A 7: 12,716,580 (GRCm39) I517N probably damaging Het
Other mutations in Zfp830
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02940:Zfp830 APN 11 82,656,295 (GRCm39) unclassified probably benign
R0143:Zfp830 UTSW 11 82,655,994 (GRCm39) missense possibly damaging 0.70
R1078:Zfp830 UTSW 11 82,656,165 (GRCm39) splice site probably null
R1524:Zfp830 UTSW 11 82,655,794 (GRCm39) missense probably damaging 0.97
R5702:Zfp830 UTSW 11 82,655,800 (GRCm39) missense possibly damaging 0.79
R5982:Zfp830 UTSW 11 82,655,803 (GRCm39) missense probably benign 0.16
R7252:Zfp830 UTSW 11 82,655,534 (GRCm39) missense probably benign 0.00
R8507:Zfp830 UTSW 11 82,655,529 (GRCm39) missense probably benign 0.00
R9699:Zfp830 UTSW 11 82,655,805 (GRCm39) missense possibly damaging 0.62
R9755:Zfp830 UTSW 11 82,655,805 (GRCm39) missense possibly damaging 0.62
R9784:Zfp830 UTSW 11 82,655,805 (GRCm39) missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- ATGCCCCAAAGGATCAGATG -3'
(R):5'- GTCAGAGGAACCCAAGAACTTG -3'

Sequencing Primer
(F):5'- GGCTATGAGGCAAGTCAACACTATC -3'
(R):5'- CTTGGACACAGCACTTTTTAAGGGAC -3'
Posted On 2015-02-19