Incidental Mutation 'IGL00819:Zfp212'
ID 14952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp212
Ensembl Gene ENSMUSG00000052763
Gene Name Zinc finger protein 212
Synonyms Znf212
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL00819
Quality Score
Status
Chromosome 6
Chromosomal Location 47897502-47909573 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47908256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 412 (P412S)
Ref Sequence ENSEMBL: ENSMUSP00000009411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009411]
AlphaFold G3X8R7
Predicted Effect probably damaging
Transcript: ENSMUST00000009411
AA Change: P412S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009411
Gene: ENSMUSG00000052763
AA Change: P412S

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
Pfam:DUF3669 41 111 8.1e-10 PFAM
KRAB 141 202 6.08e-5 SMART
ZnF_C2H2 313 335 4.54e-4 SMART
ZnF_C2H2 366 388 6.57e-1 SMART
ZnF_C2H2 424 446 3.21e-4 SMART
ZnF_C2H2 452 474 4.54e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156500
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A T 3: 96,590,350 (GRCm39) probably null Het
Apaf1 G T 10: 90,833,202 (GRCm39) probably null Het
Ash1l T A 3: 88,915,043 (GRCm39) V1891E possibly damaging Het
Atm A G 9: 53,429,831 (GRCm39) S402P probably damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccdc150 T A 1: 54,302,732 (GRCm39) N117K probably damaging Het
Ccl7 A G 11: 81,937,401 (GRCm39) N45S probably benign Het
Dnah2 A T 11: 69,364,176 (GRCm39) probably null Het
Efcab6 A G 15: 83,902,843 (GRCm39) I169T probably benign Het
Exo1 T C 1: 175,723,803 (GRCm39) V383A probably benign Het
Fbxl2 A G 9: 113,813,047 (GRCm39) probably benign Het
Fryl A T 5: 73,305,451 (GRCm39) V106D possibly damaging Het
Fsip1 C A 2: 118,080,393 (GRCm39) R121L possibly damaging Het
Igsf9 T C 1: 172,324,203 (GRCm39) S789P probably benign Het
Klf7 T C 1: 64,081,476 (GRCm39) D284G possibly damaging Het
Mbtd1 A G 11: 93,822,637 (GRCm39) probably null Het
Mef2c A T 13: 83,773,499 (GRCm39) D125V probably damaging Het
Nectin4 T C 1: 171,212,254 (GRCm39) L284S probably damaging Het
Numa1 G T 7: 101,641,917 (GRCm39) G122W possibly damaging Het
Pcbd1 A C 10: 60,927,919 (GRCm39) E27A probably benign Het
Pclo A G 5: 14,908,860 (GRCm39) N5056S unknown Het
Pelp1 G A 11: 70,285,444 (GRCm39) P808L unknown Het
Ppp1r12a T C 10: 108,076,682 (GRCm39) S304P probably damaging Het
Ppp1r7 T A 1: 93,273,978 (GRCm39) D51E probably benign Het
Rassf6 T C 5: 90,751,930 (GRCm39) K308E probably benign Het
Rel A T 11: 23,693,029 (GRCm39) F335I probably benign Het
Scnn1g A G 7: 121,339,660 (GRCm39) E153G probably benign Het
Slc2a5 T C 4: 150,210,113 (GRCm39) Y33H probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Tpra1 T A 6: 88,886,318 (GRCm39) Y65* probably null Het
Trip12 C T 1: 84,731,993 (GRCm39) G994S probably damaging Het
Trnt1 T A 6: 106,753,183 (GRCm39) Y195* probably null Het
Ttn A G 2: 76,573,394 (GRCm39) I17506T probably damaging Het
Ubr4 C T 4: 139,203,593 (GRCm39) T4761I possibly damaging Het
Vmn1r204 T A 13: 22,741,117 (GRCm39) Y249* probably null Het
Zhx1 A G 15: 57,918,090 (GRCm39) V52A probably benign Het
Zpbp2 A T 11: 98,448,418 (GRCm39) H245L probably damaging Het
Other mutations in Zfp212
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03357:Zfp212 APN 6 47,907,771 (GRCm39) missense probably benign 0.28
R0122:Zfp212 UTSW 6 47,907,957 (GRCm39) missense possibly damaging 0.87
R0219:Zfp212 UTSW 6 47,903,619 (GRCm39) missense probably damaging 1.00
R0278:Zfp212 UTSW 6 47,903,453 (GRCm39) missense probably damaging 1.00
R1845:Zfp212 UTSW 6 47,908,475 (GRCm39) missense probably benign
R4910:Zfp212 UTSW 6 47,908,433 (GRCm39) missense possibly damaging 0.94
R4991:Zfp212 UTSW 6 47,903,796 (GRCm39) missense probably damaging 1.00
R5297:Zfp212 UTSW 6 47,906,011 (GRCm39) missense probably benign
R6074:Zfp212 UTSW 6 47,903,986 (GRCm39) nonsense probably null
R6369:Zfp212 UTSW 6 47,907,831 (GRCm39) missense probably benign 0.11
R7275:Zfp212 UTSW 6 47,897,678 (GRCm39) missense probably benign
R7873:Zfp212 UTSW 6 47,907,860 (GRCm39) nonsense probably null
R9240:Zfp212 UTSW 6 47,906,032 (GRCm39) missense probably benign 0.32
Z1176:Zfp212 UTSW 6 47,903,702 (GRCm39) missense probably benign 0.12
Z1177:Zfp212 UTSW 6 47,903,454 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06