|Institutional Source||Beutler Lab|
|Gene Name||sine oculis binding protein|
|Synonyms||2900009C16Rik, jc, 5330439J01Rik, Jxc1|
|Is this an essential gene?||Possibly essential (E-score: 0.644)|
|Stock #||R1807 (G1)|
|Chromosomal Location||43002500-43174530 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 43160826 bp|
|Amino Acid Change||Methionine to Leucine at position 39 (M39L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040072 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040275]|
|Predicted Effect||possibly damaging
AA Change: M39L
PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: M39L
|Meta Mutation Damage Score||0.14|
|Coding Region Coverage||
|Validation Efficiency||97% (77/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sobp||
(F):5'- GAAGGTCCCTTGCTCTTTGC -3'
(R):5'- ATTTCGACTGTCTGAAGGCC -3'
(F):5'- GCACGAGCAAAGAGCCGTC -3'
(R):5'- CCTGTCACGATTGGAAGAGTC -3'