Incidental Mutation 'R9699:Zfp830'
ID 729485
Institutional Source Beutler Lab
Gene Symbol Zfp830
Ensembl Gene ENSMUSG00000046010
Gene Name zinc finger protein 830
Synonyms Omcg1, 2410003C20Rik, Ccdc16
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9699 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 82655171-82656761 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82655805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 203 (T203I)
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: T203I

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056154
Gene: ENSMUSG00000046010
AA Change: T203I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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
1700066M21Rik G T 1: 57,416,927 (GRCm39) R33L probably benign Het
Abhd16b A T 2: 181,136,518 (GRCm39) R473S probably benign Het
Adcyap1r1 A G 6: 55,474,140 (GRCm39) D492G probably damaging Het
Ano5 A T 7: 51,229,309 (GRCm39) N617I probably damaging Het
Cdh15 A G 8: 123,588,769 (GRCm39) E281G probably benign Het
Clasp2 T A 9: 113,738,614 (GRCm39) probably null Het
Dock8 G A 19: 25,133,388 (GRCm39) probably null Het
Dscaml1 T C 9: 45,654,315 (GRCm39) V1449A probably damaging Het
Ercc6 A G 14: 32,282,703 (GRCm39) D732G probably damaging Het
Fam174c T A 10: 80,010,161 (GRCm39) probably null Het
Fhip2b A T 14: 70,825,179 (GRCm39) S386T possibly damaging Het
Gimap6 T C 6: 48,684,951 (GRCm39) E45G probably benign Het
Glt1d1 C A 5: 127,771,364 (GRCm39) T285K probably damaging Het
Gm14412 A T 2: 177,007,636 (GRCm39) Y86* probably null Het
Grip2 A G 6: 91,742,318 (GRCm39) S912P probably benign Het
Gucy2d T A 7: 98,108,290 (GRCm39) I741N probably damaging Het
Hrh2 A T 13: 54,368,299 (GRCm39) N92Y probably damaging Het
Klrc2 T A 6: 129,637,452 (GRCm39) Q23L possibly damaging Het
Patl2 T C 2: 121,955,591 (GRCm39) D285G probably damaging Het
Prpf40a A G 2: 53,035,735 (GRCm39) V685A probably benign Het
Rspry1 A G 8: 95,380,857 (GRCm39) H511R probably benign Het
Scarb1 G T 5: 125,374,296 (GRCm39) A279E probably damaging Het
Sell A G 1: 163,893,114 (GRCm39) E110G probably damaging Het
Sftpc A T 14: 70,760,143 (GRCm39) I38N probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc5a4b C A 10: 75,946,674 (GRCm39) V33F probably damaging Het
Smad7 A G 18: 75,527,161 (GRCm39) S336G probably damaging Het
Tnpo3 C T 6: 29,565,768 (GRCm39) V529I probably benign Het
Trafd1 A G 5: 121,517,727 (GRCm39) V22A probably benign Het
Tssk1 A G 16: 17,712,545 (GRCm39) E110G probably damaging Het
Vmn1r159 A T 7: 22,542,675 (GRCm39) V119D probably damaging Het
Vmn1r191 A G 13: 22,363,355 (GRCm39) F133S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zw10 G T 9: 48,966,942 (GRCm39) probably benign 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
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
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'- AAACCTGGACTCGGTTTACTG -3'
(R):5'- TGTTGACTTGCCTCATAGCC -3'

Sequencing Primer
(F):5'- ACTGCCTGATTATGACGATGAG -3'
(R):5'- GACTTGCCTCATAGCCTTTTGAAAC -3'
Posted On 2022-10-06