Incidental Mutation 'R0905:Bsph1'
ID 83284
Institutional Source Beutler Lab
Gene Symbol Bsph1
Ensembl Gene ENSMUSG00000074378
Gene Name binder of sperm protein homolog 1
Synonyms LOC330470
MMRRC Submission 039063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R0905 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 13184766-13207374 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 13184839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000144997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098811] [ENSMUST00000204715]
AlphaFold Q3UW26
Predicted Effect probably benign
Transcript: ENSMUST00000098811
AA Change: M1L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096408
Gene: ENSMUSG00000074378
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FN2 39 82 1.36e-6 SMART
FN2 83 131 2.29e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204715
AA Change: M1L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144997
Gene: ENSMUSG00000074378
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FN2 28 72 3.47e-6 SMART
FN2 73 121 2.29e-19 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.9%
  • 20x: 92.6%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: This gene encodes a member of the binder of sperm family. The encoded protein may be involved in sperm capacitation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 G A 2: 20,854,745 (GRCm39) T1539M possibly damaging Het
Birc2 A T 9: 7,851,052 (GRCm39) *138R probably null Het
Bsn C A 9: 107,982,834 (GRCm39) D3640Y unknown Het
Cdkl1 A T 12: 69,803,338 (GRCm39) Y179* probably null Het
Cfap74 G A 4: 155,503,153 (GRCm39) probably null Het
Crtc1 A T 8: 70,843,905 (GRCm39) S454T probably damaging Het
Cspg5 A T 9: 110,075,594 (GRCm39) D110V probably damaging Het
Cyp2w1 A T 5: 139,342,194 (GRCm39) Y380F probably benign Het
Dbn1 T C 13: 55,622,040 (GRCm39) probably benign Het
Epb41l4b T C 4: 57,103,528 (GRCm39) K103E probably damaging Het
Eps8 C T 6: 137,491,305 (GRCm39) V358I probably benign Het
Gm12253 G T 11: 58,330,846 (GRCm39) probably benign Het
Hltf T A 3: 20,163,033 (GRCm39) probably null Het
Hsd17b11 C T 5: 104,157,744 (GRCm39) V123I probably benign Het
Il31ra T A 13: 112,668,207 (GRCm39) E481V probably damaging Het
Impdh2 A G 9: 108,438,296 (GRCm39) probably benign Het
Itih5 G A 2: 10,253,999 (GRCm39) R750Q probably benign Het
Kndc1 A C 7: 139,503,651 (GRCm39) K985T possibly damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lgsn A T 1: 31,242,824 (GRCm39) Y302F probably damaging Het
Lrp1b A G 2: 41,174,197 (GRCm39) S1541P probably damaging Het
Mast4 A G 13: 102,907,292 (GRCm39) M528T probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndufs2 T C 1: 171,063,922 (GRCm39) probably null Het
Nwd1 G A 8: 73,436,077 (GRCm39) V1436M probably damaging Het
Phf12 C T 11: 77,900,230 (GRCm39) R109* probably null Het
Pml A G 9: 58,156,822 (GRCm39) probably null Het
Ppfia2 T C 10: 106,655,372 (GRCm39) I313T probably benign Het
Prdm14 C T 1: 13,195,662 (GRCm39) G133D probably benign Het
Ptgr3 A G 18: 84,113,332 (GRCm39) H336R probably benign Het
Pygl A G 12: 70,257,791 (GRCm39) probably benign Het
Rassf10 C T 7: 112,554,575 (GRCm39) T392M probably damaging Het
Rpe65 T C 3: 159,307,220 (GRCm39) S54P possibly damaging Het
Sema5b T C 16: 35,443,001 (GRCm39) V2A probably benign Het
Sgsm3 T C 15: 80,895,546 (GRCm39) I699T probably damaging Het
Spn T C 7: 126,735,503 (GRCm39) T335A probably damaging Het
Tecta T C 9: 42,250,290 (GRCm39) D1834G probably damaging Het
Trp53bp1 C A 2: 121,034,799 (GRCm39) probably benign Het
Ttc3 A T 16: 94,257,648 (GRCm39) K1652* probably null Het
Other mutations in Bsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03131:Bsph1 APN 7 13,207,012 (GRCm39) missense probably damaging 1.00
R0334:Bsph1 UTSW 7 13,184,864 (GRCm39) nonsense probably null
R0684:Bsph1 UTSW 7 13,206,988 (GRCm39) missense probably damaging 1.00
R0701:Bsph1 UTSW 7 13,206,181 (GRCm39) missense probably damaging 1.00
R1087:Bsph1 UTSW 7 13,206,106 (GRCm39) missense probably damaging 1.00
R2189:Bsph1 UTSW 7 13,204,254 (GRCm39) critical splice donor site probably null
R3427:Bsph1 UTSW 7 13,206,168 (GRCm39) missense probably damaging 1.00
R4043:Bsph1 UTSW 7 13,192,201 (GRCm39) critical splice donor site probably null
R4718:Bsph1 UTSW 7 13,206,107 (GRCm39) nonsense probably null
R4726:Bsph1 UTSW 7 13,206,920 (GRCm39) missense probably benign 0.00
R5571:Bsph1 UTSW 7 13,184,840 (GRCm39) start codon destroyed probably null 0.86
R6852:Bsph1 UTSW 7 13,204,255 (GRCm39) critical splice donor site probably null
R6903:Bsph1 UTSW 7 13,192,183 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGAgaaaaaagagtgggaagagga -3'
(R):5'- CATTTCAGAGTCACTCAAGACAACACGA -3'

Sequencing Primer
(F):5'- gggaagaggagggaggag -3'
(R):5'- AATGGGCTTTCCAAAACTGTCTC -3'
Posted On 2013-11-08