Incidental Mutation 'IGL01575:Boll'
ID 91236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Boll
Ensembl Gene ENSMUSG00000025977
Gene Name boule homolog, RNA binding protein
Synonyms 4930554P13Rik, 4930597B14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL01575
Quality Score
Status
Chromosome 1
Chromosomal Location 55287817-55402628 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 55362807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087585] [ENSMUST00000114423] [ENSMUST00000159564] [ENSMUST00000173983]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000087585
SMART Domains Protein: ENSMUSP00000084868
Gene: ENSMUSG00000025977

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
RRM 46 118 1.09e-24 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
low complexity region 271 287 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114423
SMART Domains Protein: ENSMUSP00000110066
Gene: ENSMUSG00000025977

DomainStartEndE-ValueType
low complexity region 33 47 N/A INTRINSIC
low complexity region 51 67 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159564
SMART Domains Protein: ENSMUSP00000124962
Gene: ENSMUSG00000025977

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:RRM_1 47 87 2.7e-12 PFAM
Pfam:RRM_6 47 87 4e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173983
SMART Domains Protein: ENSMUSP00000134054
Gene: ENSMUSG00000025977

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
RRM 33 105 1.09e-24 SMART
low complexity region 153 167 N/A INTRINSIC
low complexity region 171 187 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Dppa5a A G 9: 78,275,062 (GRCm39) I80T possibly damaging Het
Galntl6 T C 8: 58,880,710 (GRCm39) probably benign Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Pam16l T C 10: 43,400,411 (GRCm39) V55A probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 (GRCm39) Q294K probably benign Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Zdhhc18 A G 4: 133,341,210 (GRCm39) V221A probably damaging Het
Other mutations in Boll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Boll APN 1 55,344,827 (GRCm39) splice site probably benign
R2849:Boll UTSW 1 55,385,532 (GRCm39) missense possibly damaging 0.53
R5030:Boll UTSW 1 55,394,894 (GRCm39) missense probably damaging 1.00
R6150:Boll UTSW 1 55,309,812 (GRCm39) missense possibly damaging 0.86
R7325:Boll UTSW 1 55,343,757 (GRCm39) missense probably damaging 1.00
R7455:Boll UTSW 1 55,339,262 (GRCm39) missense probably benign 0.18
R7789:Boll UTSW 1 55,399,826 (GRCm39) splice site probably null
R8046:Boll UTSW 1 55,385,562 (GRCm39) missense probably damaging 0.98
R8073:Boll UTSW 1 55,394,881 (GRCm39) start gained probably benign
R8181:Boll UTSW 1 55,402,478 (GRCm39) start codon destroyed probably benign
R8377:Boll UTSW 1 55,362,837 (GRCm39) missense possibly damaging 0.89
R9276:Boll UTSW 1 55,399,812 (GRCm39) missense possibly damaging 0.87
Posted On 2013-12-09