|Institutional Source||Beutler Lab|
|Gene Name||OFD1, centriole and centriolar satellite protein|
|Is this an essential gene?||Possibly essential (E-score: 0.705)|
|Stock #||R0614 (G1)|
|Chromosomal Location||166390033-166440704 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 166435540 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000041744 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049501]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Hemizygous conditional deletion of this gene results in embryonic lethality during organogenesis, impaired left-right axis patterning, and malformation of Henson's node cells. Heterozygous conditional deletion of this gene results in neonatal lethality, cystic kidneys, polydactyly, and cleft palate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ofd1||
(F):5'- GCCACATCTTTGTAAGTGGTCTGCC -3'
(R):5'- TGCCCAAGAACTGGATTGAGCC -3'
(F):5'- TGTAAGTGGTCTGCCACCAG -3'
(R):5'- GGCTTGATTTCCTGATAACAAGCAG -3'