Incidental Mutation 'IGL01685:Zic3'
ID 103922
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 # IGL01685
Quality Score
Status
Chromosome X
Chromosomal Location 57075988-57081990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57077088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 183 (V183A)
Ref Sequence ENSEMBL: ENSMUSP00000086001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088627] [ENSMUST00000088629] [ENSMUST00000088631] [ENSMUST00000137687]
AlphaFold Q62521
Predicted Effect probably benign
Transcript: ENSMUST00000088627
AA Change: V183A

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000085999
Gene: ENSMUSG00000067860
AA Change: V183A

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
AA Change: V183A

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086001
Gene: ENSMUSG00000067860
AA Change: V183A

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 benign
Transcript: ENSMUST00000088631
SMART Domains Protein: ENSMUSP00000086003
Gene: ENSMUSG00000067860

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,301,327 (GRCm39) R66S possibly damaging Het
Adamtsl4 A G 3: 95,591,905 (GRCm39) V61A possibly damaging Het
Arnt A G 3: 95,381,992 (GRCm39) Y195C probably damaging Het
Brd3 A G 2: 27,349,500 (GRCm39) I351T probably damaging Het
Cd28 T A 1: 60,802,307 (GRCm39) Y75* probably null Het
Cyfip2 A G 11: 46,098,315 (GRCm39) probably benign Het
Dip2a T G 10: 76,163,583 (GRCm39) E39A probably damaging Het
Dst T C 1: 34,209,533 (GRCm39) V1200A probably damaging Het
Dync2h1 A G 9: 7,142,297 (GRCm39) L1216P probably damaging Het
Ecm2 A T 13: 49,682,374 (GRCm39) I468F probably damaging Het
Gucy1b1 C A 3: 81,942,592 (GRCm39) V517F probably benign Het
H2-T23 T C 17: 36,343,536 (GRCm39) Q9R probably benign Het
Huwe1 T C X: 150,681,666 (GRCm39) probably benign Het
Hydin A T 8: 111,081,665 (GRCm39) K354* probably null Het
Ighv14-2 A T 12: 113,958,121 (GRCm39) S107T probably damaging Het
Klk1b8 A C 7: 43,604,294 (GRCm39) K254T possibly damaging Het
Lama3 T A 18: 12,586,937 (GRCm39) probably benign Het
Macroh2a2 C T 10: 61,593,550 (GRCm39) S42N probably damaging Het
Mbd6 G T 10: 127,120,601 (GRCm39) probably benign Het
Mob1a A T 6: 83,309,485 (GRCm39) E32D probably benign Het
Mrps27 A T 13: 99,551,428 (GRCm39) Q397L possibly damaging Het
Or8b3 T C 9: 38,314,317 (GRCm39) I46T possibly damaging Het
Pcdhb18 A C 18: 37,624,984 (GRCm39) K771N probably benign Het
Pcdhgc5 T G 18: 37,954,808 (GRCm39) L694R probably damaging Het
Pi4ka A T 16: 17,143,066 (GRCm39) D815E probably benign Het
Plin4 T C 17: 56,414,362 (GRCm39) K88E probably damaging Het
Rint1 A T 5: 23,992,832 (GRCm39) probably benign Het
Ssbp1 A G 6: 40,453,699 (GRCm39) T82A probably damaging Het
Trpm5 A T 7: 142,636,091 (GRCm39) S558T probably benign Het
Tti1 A G 2: 157,842,705 (GRCm39) S775P probably benign Het
Other mutations in Zic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Zic3 APN X 57,079,779 (GRCm39) missense probably damaging 1.00
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 2014-01-21