|Institutional Source||Beutler Lab|
|Gene Name||unc-51-like kinase 4|
|Is this an essential gene?||Possibly non essential (E-score: 0.489)|
|Stock #||R7836 (G1)|
|Chromosomal Location||120955351-121277197 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 121044819 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 1182 (I1182N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000131342 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000171061] [ENSMUST00000171923]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: I1182N
PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I1182N
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show reduced body size, hydrocephaly, dilated brain ventricles, otitis media, and premature death. Hypomorphic mice show partial corpus callosum aplasia, hydrocephaly, subcommissural organ and ependymal motile ciliary defects, aqueduct stenosis, and impaired CSF flow. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ulk4||
(F):5'- CTGAAATAAGGTCCCTGCCC -3'
(R):5'- GGAATTGGTGTGAATAGCCTTC -3'
(F):5'- ATAAGGTCCCTGCCCAGTCC -3'
(R):5'- GCCTTCAGTAAAGCATCGTAGTG -3'