|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein of the cerebellum 5|
|Synonyms||odd-paired related, 1700049L20Rik, Opr|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4241 (G1)|
|Chromosomal Location||122456795-122465677 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 122464663 bp|
|Amino Acid Change||Isoleucine to Valine at position 219 (I219V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035754 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039118]|
|Predicted Effect||probably benign
AA Change: I219V
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: I219V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0596|
|Coding Region Coverage||
|Validation Efficiency||98% (49/50)|
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||
|Other mutations in Zic5||
(F):5'- ATAGTGCGCGTCCCCTGAG -3'
(R):5'- TATGACAGGCTTCCCGGTG -3'
(F):5'- CGGAGCGAAGGGTGGTTC -3'
(R):5'- TCGGACCCGAGCACATG -3'