Incidental Mutation 'IGL03006:Zc4h2'
ID 407554
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 # IGL03006
Quality Score
Status
Chromosome X
Chromosomal Location 94682799-94702115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94687019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 98 (H98R)
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: H98R

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041236
Gene: ENSMUSG00000035062
AA Change: H98R

DomainStartEndE-ValueType
Pfam:zf-C4H2 13 221 4.2e-82 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119640
AA Change: H91R

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113689
Gene: ENSMUSG00000035062
AA Change: H91R

DomainStartEndE-ValueType
Pfam:zf-C4H2 12 215 7.7e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120620
AA Change: H98R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112449
Gene: ENSMUSG00000035062
AA Change: H98R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Other mutations in Zc4h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Zc4h2 APN X 94,685,807 (GRCm39) nonsense probably null
Posted On 2016-08-02