Incidental Mutation 'IGL02157:Zic5'
ID 282286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zic5
Ensembl Gene ENSMUSG00000041703
Gene Name zinc finger protein of the cerebellum 5
Synonyms odd-paired related, 1700049L20Rik, Opr
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02157
Quality Score
Status
Chromosome 14
Chromosomal Location 122696572-122703127 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122696924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 564 (P564S)
Ref Sequence ENSEMBL: ENSMUSP00000035754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039118]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000039118
AA Change: P564S
SMART Domains Protein: ENSMUSP00000035754
Gene: ENSMUSG00000041703
AA Change: P564S

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
low complexity region 116 154 N/A INTRINSIC
low complexity region 160 171 N/A INTRINSIC
low complexity region 182 192 N/A INTRINSIC
low complexity region 200 214 N/A INTRINSIC
low complexity region 284 303 N/A INTRINSIC
low complexity region 309 353 N/A INTRINSIC
ZnF_C2H2 390 408 2.2e2 SMART
ZnF_C2H2 417 444 2.14e0 SMART
ZnF_C2H2 450 474 8.02e-5 SMART
ZnF_C2H2 480 504 2.53e-2 SMART
ZnF_C2H2 510 534 7.49e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143084
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, and have been associated X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 2, a related family member on chromosome 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality and reduced life spans with exencephaly, abnormal cerebral cortex and diencephalon morphology, abnormal gait and posture, and impaired growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,855,487 (GRCm39) probably benign Het
Amotl1 A T 9: 14,483,011 (GRCm39) probably benign Het
Amph A T 13: 19,288,401 (GRCm39) T297S possibly damaging Het
Arhgap31 A G 16: 38,444,263 (GRCm39) V198A probably damaging Het
Bop1 T C 15: 76,339,772 (GRCm39) D216G possibly damaging Het
Cdh13 T C 8: 119,232,410 (GRCm39) I38T possibly damaging Het
Clmn T C 12: 104,748,177 (GRCm39) T457A probably benign Het
Clstn2 A C 9: 97,423,928 (GRCm39) M279R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fam83h A T 15: 75,876,904 (GRCm39) V208E probably damaging Het
Fer A G 17: 64,445,894 (GRCm39) N785S probably benign Het
Fnip1 T C 11: 54,378,589 (GRCm39) L225P probably damaging Het
Gbp11 C T 5: 105,475,374 (GRCm39) V325M possibly damaging Het
Glis1 A G 4: 107,484,758 (GRCm39) T418A probably benign Het
Hook2 C T 8: 85,727,779 (GRCm39) probably benign Het
Hoxa6 C A 6: 52,185,171 (GRCm39) C145F possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mbd5 T C 2: 49,168,987 (GRCm39) V1156A probably benign Het
Mon2 G A 10: 122,849,377 (GRCm39) P1308S probably damaging Het
Mta2 T A 19: 8,924,613 (GRCm39) probably benign Het
Nup188 T A 2: 30,219,385 (GRCm39) L867* probably null Het
Oca2 G A 7: 55,974,545 (GRCm39) probably null Het
Or13a22 T A 7: 140,072,847 (GRCm39) C99S probably damaging Het
Or6c88 A G 10: 129,407,019 (GRCm39) E165G probably damaging Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Plekhh2 A G 17: 84,874,370 (GRCm39) probably benign Het
Pramel22 A T 4: 143,380,947 (GRCm39) C359S probably damaging Het
Rhbdd3 T C 11: 5,055,424 (GRCm39) probably benign Het
Timeless T A 10: 128,078,255 (GRCm39) V255E probably benign Het
Tmt1b T G 10: 128,796,486 (GRCm39) T108P possibly damaging Het
Trh A T 6: 92,219,948 (GRCm39) S123T probably benign Het
Ugdh C T 5: 65,580,035 (GRCm39) A252T probably damaging Het
Zfp619 A G 7: 39,184,288 (GRCm39) Y106C probably damaging Het
Other mutations in Zic5
AlleleSourceChrCoordTypePredicted EffectPPH Score
Ezekiel UTSW 14 122,702,566 (GRCm39) missense unknown
R0227:Zic5 UTSW 14 122,697,073 (GRCm39) missense unknown
R0646:Zic5 UTSW 14 122,701,351 (GRCm39) missense unknown
R1327:Zic5 UTSW 14 122,697,191 (GRCm39) splice site probably benign
R1387:Zic5 UTSW 14 122,696,897 (GRCm39) missense unknown
R1665:Zic5 UTSW 14 122,696,939 (GRCm39) missense unknown
R2020:Zic5 UTSW 14 122,702,242 (GRCm39) missense unknown
R2571:Zic5 UTSW 14 122,696,890 (GRCm39) missense unknown
R4241:Zic5 UTSW 14 122,702,075 (GRCm39) missense probably benign 0.03
R4610:Zic5 UTSW 14 122,702,212 (GRCm39) missense probably damaging 0.98
R4706:Zic5 UTSW 14 122,696,969 (GRCm39) missense unknown
R5496:Zic5 UTSW 14 122,696,755 (GRCm39) missense unknown
R6178:Zic5 UTSW 14 122,696,748 (GRCm39) missense unknown
R6189:Zic5 UTSW 14 122,702,386 (GRCm39) missense unknown
R6332:Zic5 UTSW 14 122,697,161 (GRCm39) missense unknown
R6485:Zic5 UTSW 14 122,697,052 (GRCm39) missense unknown
R6564:Zic5 UTSW 14 122,696,833 (GRCm39) missense unknown
R6677:Zic5 UTSW 14 122,702,566 (GRCm39) missense unknown
R6877:Zic5 UTSW 14 122,697,100 (GRCm39) missense unknown
R6977:Zic5 UTSW 14 122,696,967 (GRCm39) small deletion probably benign
R6977:Zic5 UTSW 14 122,696,960 (GRCm39) missense unknown
R6978:Zic5 UTSW 14 122,696,967 (GRCm39) small deletion probably benign
R6978:Zic5 UTSW 14 122,696,960 (GRCm39) missense unknown
R6996:Zic5 UTSW 14 122,702,080 (GRCm39) missense probably benign 0.02
R7713:Zic5 UTSW 14 122,701,525 (GRCm39) missense unknown
R8492:Zic5 UTSW 14 122,702,474 (GRCm39) missense unknown
R9612:Zic5 UTSW 14 122,697,100 (GRCm39) missense unknown
R9632:Zic5 UTSW 14 122,701,787 (GRCm39) missense unknown
R9688:Zic5 UTSW 14 122,701,435 (GRCm39) missense unknown
Posted On 2015-04-16