|Institutional Source||Beutler Lab|
|Gene Name||spermatogenesis and oogenesis specific basic helix-loop-helix 2|
|Is this an essential gene?||Possibly essential (E-score: 0.563)|
|Stock #||R6173 (G1)|
|Chromosomal Location||55182028-55209957 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 55196998 bp|
|Amino Acid Change||Valine to Phenylalanine at position 263 (V263F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029369 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029369]|
|Predicted Effect||probably benign
AA Change: V263F
PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V263F
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to female and male infertility due to defects in early oocyte and spermatogonial differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sohlh2||
(F):5'- AGTTGATTATGTGAAGCAGGTCC -3'
(R):5'- TGATCAGAACTGGCAGTGGG -3'
(F):5'- AGGTCCGGGAGTCTCTCTCTC -3'
(R):5'- GGAGACAGTCGTGAATCCCTAAC -3'