Incidental Mutation 'R6150:Boll'
ID 489163
Institutional Source Beutler Lab
Gene Symbol Boll
Ensembl Gene ENSMUSG00000025977
Gene Name boule homolog, RNA binding protein
Synonyms 4930554P13Rik, 4930597B14Rik
MMRRC Submission 044297-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6150 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55287817-55402628 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55309812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 280 (I280F)
Ref Sequence ENSEMBL: ENSMUSP00000134054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000173983]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000161810
AA Change: I35F
Predicted Effect possibly damaging
Transcript: ENSMUST00000173983
AA Change: I280F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134054
Gene: ENSMUSG00000025977
AA Change: I280F

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (56/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,104,334 (GRCm39) T74A probably benign Het
Arhgef1 T C 7: 24,618,782 (GRCm39) probably null Het
Art1 C G 7: 101,756,294 (GRCm39) R162G probably benign Het
Cep44 T C 8: 56,992,840 (GRCm39) E258G probably benign Het
Cutc T A 19: 43,748,328 (GRCm39) V75E probably damaging Het
Dtx1 T C 5: 120,819,428 (GRCm39) K590R probably damaging Het
Eps8 A T 6: 137,494,172 (GRCm39) D295E probably damaging Het
Erc2 C A 14: 27,863,248 (GRCm39) S491Y probably damaging Het
F2rl3 G T 8: 73,489,366 (GRCm39) A198S probably benign Het
Fam83b G A 9: 76,399,639 (GRCm39) T488M probably damaging Het
Fitm2 A G 2: 163,311,994 (GRCm39) L73P probably damaging Het
Fxyd1 T C 7: 30,754,228 (GRCm39) probably null Het
Gm17186 T C 14: 51,918,183 (GRCm39) noncoding transcript Het
Hivep3 C A 4: 119,591,274 (GRCm39) S94* probably null Het
Ifna1 T A 4: 88,768,349 (GRCm39) M9K probably null Het
Igsf11 G A 16: 38,843,711 (GRCm39) E275K probably damaging Het
Itga1 G A 13: 115,104,769 (GRCm39) L1086F probably benign Het
Itgav T C 2: 83,606,780 (GRCm39) S374P probably benign Het
Jmy A T 13: 93,577,641 (GRCm39) N842K probably benign Het
Kcnh6 G A 11: 105,911,557 (GRCm39) V595M possibly damaging Het
Kif13b T A 14: 64,989,088 (GRCm39) I823N probably damaging Het
Kif26b T C 1: 178,743,111 (GRCm39) L1069P probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Kmt2b G T 7: 30,287,902 (GRCm39) probably benign Het
Map10 G A 8: 126,398,328 (GRCm39) D574N probably damaging Het
Mau2 A T 8: 70,472,487 (GRCm39) H565Q probably benign Het
Myb A G 10: 21,017,668 (GRCm39) I641T probably damaging Het
Naaladl2 C A 3: 24,606,214 (GRCm39) G15V probably null Het
Or10k2 G A 8: 84,267,782 (GRCm39) C3Y probably benign Het
Or3a4 A C 11: 73,945,145 (GRCm39) S147A probably benign Het
Or6c210 A G 10: 129,495,803 (GRCm39) I43V probably benign Het
Or7d11 A T 9: 19,966,170 (GRCm39) N78K probably benign Het
Otog A G 7: 45,913,483 (GRCm39) E772G possibly damaging Het
Pla2g4d T C 2: 120,100,045 (GRCm39) D674G probably damaging Het
Pmpcb A G 5: 21,942,137 (GRCm39) probably null Het
Pomk A G 8: 26,473,284 (GRCm39) V223A possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Serpina1e A G 12: 103,917,066 (GRCm39) V201A probably benign Het
Six5 C T 7: 18,831,446 (GRCm39) P646S probably benign Het
Slc17a9 A G 2: 180,379,421 (GRCm39) I298V probably benign Het
Slc37a2 G T 9: 37,149,643 (GRCm39) T188K probably damaging Het
Slc6a11 T A 6: 114,222,579 (GRCm39) F525I probably benign Het
Slit2 A T 5: 48,461,516 (GRCm39) D1504V probably damaging Het
Srcap T A 7: 127,134,000 (GRCm39) M907K probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Supv3l1 A T 10: 62,271,501 (GRCm39) N376K possibly damaging Het
Tekt3 A T 11: 62,985,483 (GRCm39) T430S possibly damaging Het
Tex2 A T 11: 106,457,906 (GRCm39) V508D probably benign Het
Tmem184c G T 8: 78,323,069 (GRCm39) Q598K probably benign Het
Ube2v1 G A 2: 167,459,874 (GRCm39) R42* probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vangl1 T C 3: 102,091,835 (GRCm39) T84A probably damaging Het
Vgll3 T A 16: 65,625,064 (GRCm39) probably null Het
Vmn1r61 T A 7: 5,613,678 (GRCm39) H212L probably benign Het
Vmn2r114 A G 17: 23,510,269 (GRCm39) V737A probably benign Het
Vmn2r35 A T 7: 7,789,555 (GRCm39) D727E probably damaging Het
Vps18 T A 2: 119,128,073 (GRCm39) Y965* probably null Het
Zfp521 A T 18: 13,977,135 (GRCm39) C1093S probably damaging Het
Zfp971 A C 2: 177,675,247 (GRCm39) H282P probably benign Het
Other mutations in Boll
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Boll APN 1 55,344,827 (GRCm39) splice site probably benign
IGL01575:Boll APN 1 55,362,807 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- GCCAAATTCAGACAGCTTATTGTGG -3'
(R):5'- GTGTGCAATGTAGACTGTAAGTTC -3'

Sequencing Primer
(F):5'- TTGTGGAATAAATAAGTATGGTGAGG -3'
(R):5'- CAAGAGCTGGATTCTGAATGTC -3'
Posted On 2017-10-10