|Institutional Source||Beutler Lab|
|Gene Name||boule homolog, RNA binding protein|
|Is this an essential gene?||Probably non essential (E-score: 0.195)|
|Stock #||R6150 (G1)|
|Chromosomal Location||55248658-55363469 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 55270653 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 280 (I280F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000134054 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000173983]|
AA Change: I35F
|Predicted Effect||possibly damaging
AA Change: I280F
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: I280F
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility due to arrested spermatogenesis at step 6 in spermiogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Boll||
(F):5'- GCCAAATTCAGACAGCTTATTGTGG -3'
(R):5'- GTGTGCAATGTAGACTGTAAGTTC -3'
(F):5'- TTGTGGAATAAATAAGTATGGTGAGG -3'
(R):5'- CAAGAGCTGGATTCTGAATGTC -3'