Incidental Mutation 'PIT4812001:Zic1'
ID 556916
Institutional Source Beutler Lab
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 # PIT4812001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 91240111-91247863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91246394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 226 (I226N)
Ref Sequence ENSEMBL: ENSMUSP00000034927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034927] [ENSMUST00000065360] [ENSMUST00000172646] [ENSMUST00000173054] [ENSMUST00000173342]
AlphaFold P46684
Predicted Effect probably damaging
Transcript: ENSMUST00000034927
AA Change: I226N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: I226N

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: I226N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: I226N

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 benign
Transcript: ENSMUST00000172646
SMART Domains Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
ZnF_C2H2 128 162 4.74e1 SMART
ZnF_C2H2 171 198 7.68e0 SMART
ZnF_C2H2 204 228 8.02e-5 SMART
ZnF_C2H2 234 258 7.15e-2 SMART
ZnF_C2H2 264 288 3.21e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173054
SMART Domains Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
PDB:2EJ4|A 122 181 3e-16 PDB
Blast:ZnF_C2H2 128 151 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173342
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 (GRCm39) S252P possibly damaging Het
4933409G03Rik G A 2: 68,419,292 (GRCm39) V14I probably benign Het
Adgrf5 T G 17: 43,761,260 (GRCm39) V985G probably damaging Het
Ankrd44 A T 1: 54,762,197 (GRCm39) Y542* probably null Het
Atp13a3 T C 16: 30,181,396 (GRCm39) T75A probably damaging Het
Atr T C 9: 95,792,702 (GRCm39) F1675L probably benign Het
Atrnl1 A G 19: 57,720,055 (GRCm39) I1082V probably benign Het
Clip1 T A 5: 123,768,738 (GRCm39) R620S probably benign Het
Cped1 T C 6: 22,122,293 (GRCm39) F391S probably benign Het
Cracr2a T C 6: 127,602,833 (GRCm39) L230P probably damaging Het
Dctn1 T A 6: 83,176,744 (GRCm39) V1266E possibly damaging Het
Dlg1 T A 16: 31,665,703 (GRCm39) F687I probably benign Het
Dnah8 C A 17: 30,927,419 (GRCm39) D1358E probably benign Het
Dnajc11 A G 4: 152,037,346 (GRCm39) R84G probably benign Het
Dnajc14 C A 10: 128,642,552 (GRCm39) T158N probably damaging Het
Dscc1 A G 15: 54,945,657 (GRCm39) L346P probably damaging Het
Efcab3 A G 11: 104,990,805 (GRCm39) I71V probably null Het
Erbb3 T A 10: 128,410,248 (GRCm39) Q670L possibly damaging Het
Ercc4 G A 16: 12,962,311 (GRCm39) E652K probably benign Het
Ercc6l2 T A 13: 64,006,071 (GRCm39) V591D possibly damaging Het
Fam3c C T 6: 22,321,369 (GRCm39) G134E probably damaging Het
Frmd5 A G 2: 121,416,927 (GRCm39) V70A probably benign Het
Gjd3 A T 11: 102,691,807 (GRCm39) Y65* probably null Het
Gm3033 A C 14: 3,848,891 (GRCm38) L137F Het
Gria4 C A 9: 4,427,128 (GRCm39) A771S probably damaging Het
Hc A G 2: 34,919,464 (GRCm39) L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hycc2 T G 1: 58,587,862 (GRCm39) D117A possibly damaging Het
Inpp5f A T 7: 128,294,032 (GRCm39) Y696F probably benign Het
Itga11 C A 9: 62,639,475 (GRCm39) Q157K probably damaging Het
Itgb5 G T 16: 33,740,357 (GRCm39) C489F probably damaging Het
Klhl38 C T 15: 58,185,938 (GRCm39) G264S probably benign Het
Krt78 C T 15: 101,856,504 (GRCm39) V436M probably damaging Het
Mia2 A T 12: 59,148,365 (GRCm39) D75V possibly damaging Het
Mphosph6 T A 8: 118,525,888 (GRCm39) Q20L probably damaging Het
Ogfr C T 2: 180,237,304 (GRCm39) P630S possibly damaging Het
Or2c1 A T 16: 3,657,394 (GRCm39) K186* probably null Het
Or4c11 G A 2: 88,695,314 (GRCm39) V122M probably benign Het
Or5an9 T G 19: 12,187,617 (GRCm39) I229S probably damaging Het
Pbx3 T C 2: 34,114,631 (GRCm39) E101G probably damaging Het
Pcca T A 14: 123,027,794 (GRCm39) N587K probably benign Het
Pdia3 G T 2: 121,264,011 (GRCm39) A287S probably damaging Het
Pfas T A 11: 68,880,862 (GRCm39) D209V Het
Pramel29 A G 4: 143,936,086 (GRCm39) I56T probably benign Het
Pter A T 2: 12,985,179 (GRCm39) I170F probably damaging Het
Ptprq A T 10: 107,502,428 (GRCm39) V830E probably damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Rbm19 T C 5: 120,266,315 (GRCm39) V446A possibly damaging Het
Selp A G 1: 163,959,832 (GRCm39) N363D probably benign Het
Six2 C A 17: 85,992,729 (GRCm39) S258I possibly damaging Het
Smc1b A G 15: 84,953,852 (GRCm39) V1139A possibly damaging Het
Sp1 A G 15: 102,316,843 (GRCm39) T121A possibly damaging Het
Sucla2 A T 14: 73,816,889 (GRCm39) I210L possibly damaging Het
Trank1 T C 9: 111,176,980 (GRCm39) L339P probably damaging Het
Ttll5 T A 12: 85,973,635 (GRCm39) D794E probably benign Het
Usp32 C T 11: 84,900,900 (GRCm39) V1107I probably damaging Het
Vmn1r195 T C 13: 22,463,033 (GRCm39) Y168H probably benign Het
Vmn1r223 A G 13: 23,434,060 (GRCm39) N218S probably damaging Het
Vmn2r25 T A 6: 123,800,447 (GRCm39) S632C probably damaging Het
Vwa3a A T 7: 120,375,356 (GRCm39) K390I probably damaging Het
Zfp442 A T 2: 150,251,661 (GRCm39) C80* probably null Het
Other mutations in Zic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:Zic1 APN 9 91,244,525 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CTGAACGCGCGAAAACCTTG -3'
(R):5'- GTTTCTCCGGGGACATGTAC -3'

Sequencing Primer
(F):5'- CACTCGGATGTGGTTGACC -3'
(R):5'- ATGTACCCACGGCCGGAAC -3'
Posted On 2019-06-07