Incidental Mutation 'R5702:Zfp830'
ID 451758
Institutional Source Beutler Lab
Gene Symbol Zfp830
Ensembl Gene ENSMUSG00000046010
Gene Name zinc finger protein 830
Synonyms Omcg1, 2410003C20Rik, Ccdc16
MMRRC Submission 043182-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5702 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 82655171-82656761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82655800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 201 (F201L)
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: F201L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010
AA Change: F201L

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,787,752 (GRCm39) S1018N probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Ahnak G T 19: 8,979,204 (GRCm39) V163L probably damaging Het
Atf6b T C 17: 34,869,978 (GRCm39) I288T possibly damaging Het
Blm A T 7: 80,108,675 (GRCm39) V1323E probably benign Het
Brap T A 5: 121,803,206 (GRCm39) L118Q probably damaging Het
C1qbp G A 11: 70,869,570 (GRCm39) T171I probably benign Het
Ccdc136 C A 6: 29,412,981 (GRCm39) H455Q probably damaging Het
Chd3 A T 11: 69,252,261 (GRCm39) V47D possibly damaging Het
Cnot10 A C 9: 114,458,078 (GRCm39) F143V probably damaging Het
Cnot8 T C 11: 58,004,873 (GRCm39) S191P possibly damaging Het
Coro2b G A 9: 62,333,859 (GRCm39) T345I probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dnah11 C A 12: 118,077,642 (GRCm39) A1284S probably benign Het
Dock4 G A 12: 40,787,490 (GRCm39) D802N probably benign Het
Dsg1a T C 18: 20,469,922 (GRCm39) probably null Het
Elp3 C T 14: 65,815,431 (GRCm39) R187Q probably damaging Het
Ercc3 G A 18: 32,387,206 (GRCm39) R473Q probably damaging Het
F5 G A 1: 164,022,116 (GRCm39) W1530* probably null Het
Fmnl1 T C 11: 103,076,491 (GRCm39) I219T probably damaging Het
Gemin4 G A 11: 76,101,663 (GRCm39) R1033C probably benign Het
Gm2381 T A 7: 42,471,820 (GRCm39) I20F probably benign Het
Hmgcll1 A G 9: 75,991,672 (GRCm39) M129V possibly damaging Het
Ltbp3 G T 19: 5,797,849 (GRCm39) R496L probably benign Het
Mettl13 A G 1: 162,373,549 (GRCm39) V234A probably benign Het
Minar1 G A 9: 89,473,208 (GRCm39) A901V probably benign Het
Or1j4 A G 2: 36,740,946 (GRCm39) D296G probably damaging Het
Pde7a A T 3: 19,295,371 (GRCm39) C146* probably null Het
Pla2g4e T A 2: 120,018,992 (GRCm39) N202Y possibly damaging Het
Plk5 G A 10: 80,196,401 (GRCm39) probably null Het
Plscr1l1 G A 9: 92,225,741 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,582 (GRCm39) T15A probably benign Het
Rrn3 T A 16: 13,631,130 (GRCm39) Y655* probably null Het
Scarb2 C T 5: 92,599,255 (GRCm39) G355D probably damaging Het
Scd2 G A 19: 44,286,502 (GRCm39) A111T possibly damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Smurf1 T C 5: 144,838,021 (GRCm39) T57A possibly damaging Het
Spire2 C T 8: 124,073,402 (GRCm39) P94S probably benign Het
Tex2 T C 11: 106,435,221 (GRCm39) H237R possibly damaging Het
Vmn2r109 T C 17: 20,774,407 (GRCm39) D316G probably benign Het
Zic1 A G 9: 91,246,133 (GRCm39) F313S 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
R3686:Zfp830 UTSW 11 82,656,188 (GRCm39) missense possibly damaging 0.89
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'- ACCTGGACTCGGTTTACTGC -3'
(R):5'- TAGTGTTGACTTGCCTCATAGC -3'

Sequencing Primer
(F):5'- ACTGCCTGATTATGACGATGAG -3'
(R):5'- GACTTGCCTCATAGCCTTTTGAAAC -3'
Posted On 2017-01-03