Incidental Mutation 'IGL00756:Zc4h2'
ID14912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc4h2
Ensembl Gene ENSMUSG00000035062
Gene Namezinc finger, C4H2 domain containing
SynonymsLOC245522
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00756
Quality Score
Status
ChromosomeX
Chromosomal Location95639193-95658509 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 95642201 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 186 (R186*)
Ref Sequence ENSEMBL: ENSMUSP00000112449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044382] [ENSMUST00000119640] [ENSMUST00000120620]
Predicted Effect possibly damaging
Transcript: ENSMUST00000044382
AA Change: Q175L

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041236
Gene: ENSMUSG00000035062
AA Change: Q175L

DomainStartEndE-ValueType
Pfam:zf-C4H2 13 221 4.2e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119640
AA Change: Q168L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113689
Gene: ENSMUSG00000035062
AA Change: Q168L

DomainStartEndE-ValueType
Pfam:zf-C4H2 12 215 7.7e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120620
AA Change: R186*
SMART Domains Protein: ENSMUSP00000112449
Gene: ENSMUSG00000035062
AA Change: R186*

DomainStartEndE-ValueType
Pfam:zf-C4H2 12 190 3.4e-49 PFAM
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 encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,264,447 probably benign Het
4932438A13Rik C A 3: 36,908,218 H489Q probably damaging Het
Acvr2a A T 2: 48,873,052 probably benign Het
Col19a1 T A 1: 24,322,942 K583N possibly damaging Het
Crot C A 5: 8,976,072 R305L probably damaging Het
Ctnnal1 A T 4: 56,829,544 N428K possibly damaging Het
Dab1 A G 4: 104,727,878 K405R probably benign Het
Dnah6 A C 6: 73,123,771 F2016L possibly damaging Het
Fgfrl1 A G 5: 108,705,953 K309E possibly damaging Het
Gucy1b2 T C 14: 62,403,209 H749R probably benign Het
Mki67 A T 7: 135,698,731 S1525T possibly damaging Het
Mob1a T A 6: 83,332,486 Y72N probably damaging Het
Ntrk1 C T 3: 87,783,697 E387K probably benign Het
Qser1 A G 2: 104,787,671 M932T possibly damaging Het
Rarb C A 14: 16,443,791 E166* probably null Het
Thnsl1 T A 2: 21,212,612 H392Q probably benign Het
Tmem171 T A 13: 98,686,426 R288S probably benign Het
Other mutations in Zc4h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Zc4h2 APN X 95643413 missense probably damaging 1.00
Posted On2012-12-06