Incidental Mutation 'IGL00756:Zc4h2'
ID 14912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zc4h2
Ensembl Gene ENSMUSG00000035062
Gene Name zinc finger, C4H2 domain containing
Synonyms LOC245522
Accession Numbers
Essential gene? Not available question?
Stock # IGL00756
Quality Score
Status
Chromosome X
Chromosomal Location 94682799-94702115 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 94685807 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q68FG0
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
Acvr2a A T 2: 48,763,064 (GRCm39) probably benign Het
Bltp1 C A 3: 36,962,367 (GRCm39) H489Q probably damaging Het
Col19a1 T A 1: 24,362,023 (GRCm39) K583N possibly damaging Het
Cplane1 A G 15: 8,293,931 (GRCm39) probably benign Het
Crot C A 5: 9,026,072 (GRCm39) R305L probably damaging Het
Ctnnal1 A T 4: 56,829,544 (GRCm39) N428K possibly damaging Het
Dab1 A G 4: 104,585,075 (GRCm39) K405R probably benign Het
Dnah6 A C 6: 73,100,754 (GRCm39) F2016L possibly damaging Het
Fgfrl1 A G 5: 108,853,819 (GRCm39) K309E possibly damaging Het
Gucy1b2 T C 14: 62,640,658 (GRCm39) H749R probably benign Het
Mki67 A T 7: 135,300,460 (GRCm39) S1525T possibly damaging Het
Mob1a T A 6: 83,309,468 (GRCm39) Y72N probably damaging Het
Ntrk1 C T 3: 87,691,004 (GRCm39) E387K probably benign Het
Qser1 A G 2: 104,618,016 (GRCm39) M932T possibly damaging Het
Rarb C A 14: 16,443,791 (GRCm38) E166* probably null Het
Thnsl1 T A 2: 21,217,423 (GRCm39) H392Q probably benign Het
Tmem171 T A 13: 98,822,934 (GRCm39) R288S probably benign Het
Other mutations in Zc4h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Zc4h2 APN X 94,687,019 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06