|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5963 (G1)|
|Chromosomal Location||88971790-89131013 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 89073695 bp|
|Amino Acid Change||Serine to Proline at position 1511 (S1511P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023828 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023828]|
|Predicted Effect||probably benign
AA Change: S1511P
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: S1511P
|Meta Mutation Damage Score||0.0802|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|MGI Phenotype||Strain: 2674124
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for an insertional mutation exhibit embryonic lethality and neurulation defects resulting in the arrest of gastrulation movements and abnormal left-right specification in the heart. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rttn||
(F):5'- CCTTTGTCTTAGTAGTGAGATGCAG -3'
(R):5'- ACCTTGGGTGCTGAAGATC -3'
(F):5'- AAATCAGTATGTTTTCTCTGTCTTCC -3'
(R):5'- CTTGGGTGCTGAAGATCCAAACTTC -3'