Incidental Mutation 'R8483:Zic1'
ID 657628
Institutional Source Beutler Lab
Gene Symbol Zic1
Ensembl Gene ENSMUSG00000032368
Gene Name zinc finger protein of the cerebellum 1
Synonyms odd-paired homolog
MMRRC Submission 067927-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R8483 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 91240111-91247863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91246424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 216 (Y216C)
Ref Sequence ENSEMBL: ENSMUSP00000068858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034927] [ENSMUST00000065360] [ENSMUST00000172646] [ENSMUST00000173054] [ENSMUST00000173342]
AlphaFold P46684
Predicted Effect probably damaging
Transcript: ENSMUST00000034927
AA Change: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034927
Gene: ENSMUSG00000032368
AA Change: Y216C

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: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068858
Gene: ENSMUSG00000032368
AA Change: Y216C

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 noncoding transcript
Transcript: ENSMUST00000172978
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 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 noncoding transcript
Transcript: ENSMUST00000174611
Predicted Effect probably benign
Transcript: ENSMUST00000173342
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,285 (GRCm39) *148Q probably null Het
Ankrd28 A T 14: 31,457,048 (GRCm39) probably null Het
Ark2c G A 18: 77,556,034 (GRCm39) A174V probably benign Het
Aurkc T A 7: 6,999,664 (GRCm39) L57* probably null Het
Brca1 T C 11: 101,416,802 (GRCm39) D444G probably damaging Het
Cd200l1 T A 16: 45,240,235 (GRCm39) I134F possibly damaging Het
Cdhr4 T C 9: 107,872,198 (GRCm39) V204A probably damaging Het
Chd7 A G 4: 8,822,412 (GRCm39) D835G possibly damaging Het
Cux1 C A 5: 136,303,944 (GRCm39) A1328S possibly damaging Het
Cwc27 G T 13: 104,940,772 (GRCm39) P196T probably benign Het
Cwc27 C A 13: 104,940,776 (GRCm39) L194F possibly damaging Het
Cyp39a1 A G 17: 43,993,898 (GRCm39) D186G probably benign Het
Dnah3 T C 7: 119,536,253 (GRCm39) I3677V probably benign Het
Dnmt3b A G 2: 153,516,306 (GRCm39) D477G probably damaging Het
Drc1 A T 5: 30,507,785 (GRCm39) Y269F probably benign Het
Esco2 T C 14: 66,069,118 (GRCm39) H64R probably benign Het
Gcnt3 A T 9: 69,941,959 (GRCm39) V203E probably damaging Het
Gpam A C 19: 55,077,374 (GRCm39) V139G probably damaging Het
Gsta3 G A 1: 21,333,063 (GRCm39) S104N probably damaging Het
Hsd17b13 C T 5: 104,125,049 (GRCm39) G45R probably damaging Het
Ighe T C 12: 113,235,808 (GRCm39) M173V Het
Ipo5 A G 14: 121,183,560 (GRCm39) E1046G probably benign Het
Kank4 T A 4: 98,659,615 (GRCm39) Q821L probably damaging Het
Kat6b G T 14: 21,719,461 (GRCm39) S1271I probably damaging Het
Klhl1 A G 14: 96,619,370 (GRCm39) S176P probably benign Het
Lbhd2 G A 12: 111,378,190 (GRCm39) D86N probably damaging Het
Lrp1 G A 10: 127,394,519 (GRCm39) R2565C probably damaging Het
Lrrc55 A T 2: 85,022,295 (GRCm39) C299S probably benign Het
Mtres1 T C 10: 43,408,915 (GRCm39) Y76C probably benign Het
Nprl3 T A 11: 32,213,083 (GRCm39) S44C probably damaging Het
Nucks1 A G 1: 131,855,829 (GRCm39) H86R possibly damaging Het
Or14j3 A G 17: 37,900,866 (GRCm39) V126A possibly damaging Het
Or4s2 A G 2: 88,473,678 (GRCm39) D189G probably benign Het
Or6c219 T A 10: 129,780,998 (GRCm39) H311L probably benign Het
Ovgp1 T A 3: 105,894,311 (GRCm39) probably benign Het
Oxa1l G A 14: 54,606,001 (GRCm39) probably null Het
Patj C A 4: 98,312,539 (GRCm39) H292Q probably damaging Het
Pcdha9 A G 18: 37,131,636 (GRCm39) N235S probably benign Het
Pcdhb12 A T 18: 37,570,590 (GRCm39) T579S possibly damaging Het
Pde3b A G 7: 114,118,803 (GRCm39) I647M probably benign Het
Pdp1 T C 4: 11,961,982 (GRCm39) R110G probably benign Het
Prb1a T G 6: 132,185,398 (GRCm39) R78S unknown Het
Prmt8 A C 6: 127,680,976 (GRCm39) probably null Het
Semp2l2a T A 8: 13,888,229 (GRCm39) probably benign Het
Slc35f2 T A 9: 53,716,985 (GRCm39) Y249* probably null Het
Smok2b A C 17: 13,453,908 (GRCm39) M23L probably benign Het
Sra1 A G 18: 36,800,879 (GRCm39) I153T probably benign Het
Stk38l T A 6: 146,660,017 (GRCm39) H16Q possibly damaging Het
Tent5c T A 3: 100,379,784 (GRCm39) H324L probably damaging Het
Unc80 T C 1: 66,732,869 (GRCm39) S3073P possibly damaging Het
Usp24 T C 4: 106,230,953 (GRCm39) I844T probably damaging Het
V1ra8 A T 6: 90,179,916 (GRCm39) I40F probably benign Het
Vmn2r88 T A 14: 51,650,530 (GRCm39) M81K possibly damaging Het
Vps8 T C 16: 21,393,763 (GRCm39) I1182T probably damaging Het
Wdr54 A G 6: 83,130,591 (GRCm39) V181A probably benign Het
Zbed4 A G 15: 88,665,990 (GRCm39) Y686C probably damaging Het
Zfyve28 T C 5: 34,393,480 (GRCm39) N62S possibly damaging 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
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
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'- TTGAGGTTCTCTGAACGCGC -3'
(R):5'- TTCGCCCAACGTGGTTAAC -3'

Sequencing Primer
(F):5'- GTTCTCTGAACGCGCGAAAAC -3'
(R):5'- TTAACGGGCAGATGCGGC -3'
Posted On 2021-01-18