Incidental Mutation 'IGL02022:Zic1'
ID 183998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zic1
Ensembl Gene ENSMUSG00000032368
Gene Name zinc finger protein of the cerebellum 1
Synonyms odd-paired homolog
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02022
Quality Score
Status
Chromosome 9
Chromosomal Location 91240111-91247863 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 91244525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034927] [ENSMUST00000065360] [ENSMUST00000173342]
AlphaFold P46684
Predicted Effect probably damaging
Transcript: ENSMUST00000034927
AA Change: R378L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: R378L

DomainStartEndE-ValueType
low complexity region 68 85 N/A INTRINSIC
low complexity region 110 134 N/A INTRINSIC
ZnF_C2H2 238 260 6.82e1 SMART
ZnF_C2H2 269 296 7.49e0 SMART
ZnF_C2H2 302 326 8.02e-5 SMART
ZnF_C2H2 332 356 1.58e-3 SMART
ZnF_C2H2 362 384 4.54e-4 SMART
low complexity region 386 400 N/A INTRINSIC
low complexity region 403 427 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065360
AA Change: R378L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: R378L

DomainStartEndE-ValueType
low complexity region 68 85 N/A INTRINSIC
low complexity region 110 134 N/A INTRINSIC
ZnF_C2H2 238 260 6.82e1 SMART
ZnF_C2H2 269 296 7.49e0 SMART
ZnF_C2H2 302 326 8.02e-5 SMART
ZnF_C2H2 332 356 1.58e-3 SMART
ZnF_C2H2 362 384 4.54e-4 SMART
low complexity region 386 400 N/A INTRINSIC
low complexity region 403 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173121
SMART Domains Protein: ENSMUSP00000134006
Gene: ENSMUSG00000032368

DomainStartEndE-ValueType
ZnF_C2H2 10 32 4.54e-4 SMART
low complexity region 34 48 N/A INTRINSIC
low complexity region 51 75 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000173342
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. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show cerebellar hypoplasia with a missing lobule of the anterior lobe. Newborn pups suckle poorly. 50% die within one day of birth and almost all die within 3 weeks; longer survivors show marked ataxia and exhibit tonic convulsions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,120,358 (GRCm39) Y160C probably damaging Het
Abi3bp T C 16: 56,412,999 (GRCm39) S314P probably damaging Het
Abra T C 15: 41,732,802 (GRCm39) H88R probably benign Het
Bsn A G 9: 107,987,617 (GRCm39) probably benign Het
Chd3 A C 11: 69,251,886 (GRCm39) C123G probably damaging Het
Clca3b A C 3: 144,547,171 (GRCm39) probably null Het
Cnot7 G T 8: 40,952,386 (GRCm39) P190T probably damaging Het
Cps1 A T 1: 67,212,031 (GRCm39) probably benign Het
Dennd2d A G 3: 106,407,220 (GRCm39) T424A probably benign Het
Dnhd1 C T 7: 105,327,516 (GRCm39) R54C probably damaging Het
Efhd1 G A 1: 87,192,334 (GRCm39) E55K probably damaging Het
Ep300 T C 15: 81,495,638 (GRCm39) probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Klhl3 A T 13: 58,198,878 (GRCm39) S201T possibly damaging Het
Krt1c A G 15: 101,724,953 (GRCm39) F219S probably damaging Het
Lrp1b C T 2: 41,172,172 (GRCm39) D751N probably damaging Het
Lyst T A 13: 13,838,629 (GRCm39) C1848* probably null Het
Macf1 A G 4: 123,284,842 (GRCm39) probably null Het
Med10 T C 13: 69,961,819 (GRCm39) probably benign Het
Msh4 T A 3: 153,592,593 (GRCm39) T170S probably damaging Het
Or52n3 T C 7: 104,530,141 (GRCm39) C76R probably damaging Het
Pelp1 T A 11: 70,297,153 (GRCm39) probably benign Het
Prex2 G A 1: 11,367,963 (GRCm39) V1595I probably benign Het
Prpf8 C T 11: 75,392,660 (GRCm39) R1617* probably null Het
Rabep1 T A 11: 70,825,385 (GRCm39) L684Q probably damaging Het
Slc22a4 G A 11: 53,874,435 (GRCm39) probably benign Het
Smox T C 2: 131,362,037 (GRCm39) F153S probably damaging Het
Tma16 A G 8: 66,939,062 (GRCm39) probably null Het
Unc80 G T 1: 66,665,675 (GRCm39) R1814L possibly damaging Het
Vmn2r108 C T 17: 20,691,987 (GRCm39) D179N possibly damaging Het
Washc2 A G 6: 116,236,126 (GRCm39) E1199G probably benign Het
Other mutations in Zic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02669:Zic1 APN 9 91,246,486 (GRCm39) missense possibly damaging 0.71
IGL02968:Zic1 APN 9 91,244,543 (GRCm39) missense probably damaging 1.00
PIT4812001:Zic1 UTSW 9 91,246,394 (GRCm39) missense probably damaging 1.00
R1493:Zic1 UTSW 9 91,246,809 (GRCm39) missense probably damaging 1.00
R1599:Zic1 UTSW 9 91,243,741 (GRCm39) missense probably benign 0.08
R1742:Zic1 UTSW 9 91,243,629 (GRCm39) missense probably damaging 0.98
R2158:Zic1 UTSW 9 91,246,946 (GRCm39) missense possibly damaging 0.73
R4587:Zic1 UTSW 9 91,246,875 (GRCm39) missense probably damaging 1.00
R4735:Zic1 UTSW 9 91,246,558 (GRCm39) missense possibly damaging 0.55
R4830:Zic1 UTSW 9 91,244,584 (GRCm39) missense probably damaging 1.00
R5186:Zic1 UTSW 9 91,246,424 (GRCm39) missense probably damaging 1.00
R5702:Zic1 UTSW 9 91,246,133 (GRCm39) missense probably damaging 0.99
R6298:Zic1 UTSW 9 91,246,556 (GRCm39) missense probably damaging 1.00
R7221:Zic1 UTSW 9 91,246,785 (GRCm39) missense probably damaging 1.00
R7250:Zic1 UTSW 9 91,247,028 (GRCm39) missense probably damaging 0.99
R7764:Zic1 UTSW 9 91,247,745 (GRCm39) intron probably benign
R7806:Zic1 UTSW 9 91,247,024 (GRCm39) missense probably damaging 1.00
R7951:Zic1 UTSW 9 91,244,654 (GRCm39) missense probably damaging 0.99
R8408:Zic1 UTSW 9 91,246,847 (GRCm39) missense probably damaging 0.97
R8483:Zic1 UTSW 9 91,246,424 (GRCm39) missense probably damaging 1.00
R8754:Zic1 UTSW 9 91,244,701 (GRCm39) intron probably benign
R9185:Zic1 UTSW 9 91,246,542 (GRCm39) missense probably benign 0.26
R9269:Zic1 UTSW 9 91,246,373 (GRCm39) missense probably damaging 1.00
R9395:Zic1 UTSW 9 91,247,070 (GRCm39) start codon destroyed probably benign 0.21
R9579:Zic1 UTSW 9 91,246,790 (GRCm39) missense probably damaging 1.00
R9725:Zic1 UTSW 9 91,246,875 (GRCm39) missense probably damaging 1.00
RF011:Zic1 UTSW 9 91,246,383 (GRCm39) missense probably benign 0.00
Z1177:Zic1 UTSW 9 91,246,632 (GRCm39) missense probably damaging 1.00
Z1186:Zic1 UTSW 9 91,243,783 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07