Incidental Mutation 'IGL00778:Zic3'
ID15033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zic3
Ensembl Gene ENSMUSG00000067860
Gene Namezinc finger protein of the cerebellum 3
SynonymsKa
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00778
Quality Score
Status
ChromosomeX
Chromosomal Location58022700-58041736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58034419 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 424 (Y424C)
Ref Sequence ENSEMBL: ENSMUSP00000085999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088627] [ENSMUST00000088629] [ENSMUST00000088631] [ENSMUST00000137687]
Predicted Effect probably damaging
Transcript: ENSMUST00000088627
AA Change: Y424C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085999
Gene: ENSMUSG00000067860
AA Change: Y424C

DomainStartEndE-ValueType
low complexity region 123 134 N/A INTRINSIC
ZnF_C2H2 260 285 6.82e1 SMART
ZnF_C2H2 294 321 6.24e0 SMART
ZnF_C2H2 327 351 2.12e-4 SMART
ZnF_C2H2 357 381 1.58e-3 SMART
ZnF_C2H2 387 409 4.94e-5 SMART
low complexity region 410 427 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088629
SMART Domains Protein: ENSMUSP00000086001
Gene: ENSMUSG00000067860

DomainStartEndE-ValueType
low complexity region 123 134 N/A INTRINSIC
ZnF_C2H2 260 285 6.82e1 SMART
ZnF_C2H2 294 321 6.24e0 SMART
ZnF_C2H2 327 351 2.12e-4 SMART
ZnF_C2H2 357 381 1.58e-3 SMART
ZnF_C2H2 387 407 1.41e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088631
AA Change: Y204C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086003
Gene: ENSMUSG00000067860
AA Change: Y204C

DomainStartEndE-ValueType
ZnF_C2H2 40 65 6.82e1 SMART
ZnF_C2H2 74 101 6.24e0 SMART
ZnF_C2H2 107 131 2.12e-4 SMART
ZnF_C2H2 137 161 1.58e-3 SMART
ZnF_C2H2 167 189 4.94e-5 SMART
low complexity region 190 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137687
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 ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show incomplete penetrance varying by genetic background and allele. Phenotypes range from bent tail/skeletal abnormalities to severe defects in embryo turning, cardiac development and neural tube closure resulting in death at embryonic day 18.5 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Csgalnact2 A T 6: 118,126,272 M1K probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Other mutations in Zic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Zic3 APN X 58031728 missense probably benign 0.35
IGL02151:Zic3 APN X 58031539 splice site probably null
R3154:Zic3 UTSW X 58031478 missense possibly damaging 0.70
Z1176:Zic3 UTSW X 58031300 missense probably damaging 1.00
Z1176:Zic3 UTSW X 58031301 missense possibly damaging 0.75
Posted On2012-12-06