Incidental Mutation 'IGL00778:Zic3'
ID 15033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zic3
Ensembl Gene ENSMUSG00000067860
Gene Name zinc finger protein of the cerebellum 3
Synonyms Ka
Accession Numbers
Essential gene? Not available question?
Stock # IGL00778
Quality Score
Status
Chromosome X
Chromosomal Location 57075988-57081990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57079779 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q62521
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: 44,401,391 (GRCm39) H152Y probably benign Het
Abca1 T C 4: 53,086,132 (GRCm39) D457G probably benign Het
Atp8a1 T G 5: 67,817,246 (GRCm39) K913N possibly damaging Het
Cd180 G A 13: 102,841,917 (GRCm39) S321N probably benign Het
Cdc14b T C 13: 64,363,470 (GRCm39) N264D probably damaging Het
Cenpf A T 1: 189,387,109 (GRCm39) C1724S probably benign Het
Chil4 A G 3: 106,109,113 (GRCm39) S397P probably benign Het
Clpb C T 7: 101,427,815 (GRCm39) R387* probably null Het
Csgalnact2 A T 6: 118,103,233 (GRCm39) M1K probably null Het
Enpp3 C A 10: 24,674,160 (GRCm39) C380F probably damaging Het
Gtf3c1 G A 7: 125,266,546 (GRCm39) R967W probably damaging Het
Hnrnpr T A 4: 136,066,856 (GRCm39) D472E unknown Het
Klhl28 A T 12: 64,996,840 (GRCm39) D500E probably damaging Het
Lmo7 C T 14: 102,148,321 (GRCm39) probably benign Het
Mphosph8 A G 14: 56,911,900 (GRCm39) I308V probably benign Het
Myo6 T A 9: 80,190,868 (GRCm39) probably null Het
Nsmaf C T 4: 6,435,056 (GRCm39) probably null Het
Padi6 T A 4: 140,454,934 (GRCm39) I668L possibly damaging Het
Pigw A G 11: 84,768,150 (GRCm39) I393T possibly damaging Het
Prg3 G A 2: 84,824,076 (GRCm39) C212Y probably damaging Het
Pwp1 T C 10: 85,715,752 (GRCm39) V267A probably benign Het
Raver2 C A 4: 100,953,468 (GRCm39) Q79K probably benign Het
Sdr9c7 T C 10: 127,745,697 (GRCm39) S270P probably damaging Het
Sfmbt2 A G 2: 10,406,818 (GRCm39) E39G probably damaging Het
Strada A G 11: 106,061,976 (GRCm39) probably benign Het
Xrn1 T C 9: 95,855,500 (GRCm39) probably benign Het
Other mutations in Zic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01685:Zic3 APN X 57,077,088 (GRCm39) missense probably benign 0.35
IGL02151:Zic3 APN X 57,076,899 (GRCm39) splice site probably null
R3154:Zic3 UTSW X 57,076,838 (GRCm39) missense possibly damaging 0.70
Z1176:Zic3 UTSW X 57,076,661 (GRCm39) missense possibly damaging 0.75
Z1176:Zic3 UTSW X 57,076,660 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06