Incidental Mutation 'R1087:Bsph1'
ID 85067
Institutional Source Beutler Lab
Gene Symbol Bsph1
Ensembl Gene ENSMUSG00000074378
Gene Name binder of sperm protein homolog 1
Synonyms LOC330470
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1087 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 13184766-13207374 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13206106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 57 (Y57C)
Ref Sequence ENSEMBL: ENSMUSP00000096408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098811] [ENSMUST00000204715]
AlphaFold Q3UW26
Predicted Effect probably damaging
Transcript: ENSMUST00000098811
AA Change: Y57C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096408
Gene: ENSMUSG00000074378
AA Change: Y57C

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 damaging
Transcript: ENSMUST00000204715
AA Change: Y47C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144997
Gene: ENSMUSG00000074378
AA Change: Y47C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FN2 28 72 3.47e-6 SMART
FN2 73 121 2.29e-19 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 A G 14: 25,870,603 (GRCm39) M56V unknown Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atp8b3 T C 10: 80,356,017 (GRCm39) R1232G probably benign Het
Axdnd1 T A 1: 156,193,259 (GRCm39) M643L probably benign Het
Car13 G A 3: 14,706,885 (GRCm39) W6* probably null Het
Ccdc192 T C 18: 57,863,870 (GRCm39) S225P probably damaging Het
Ccng2 T C 5: 93,421,303 (GRCm39) I271T probably benign Het
Ces1f T A 8: 93,984,923 (GRCm39) D468V probably damaging Het
Chil4 A G 3: 106,117,881 (GRCm39) Y130H probably benign Het
Clns1a T A 7: 97,354,862 (GRCm39) H69Q possibly damaging Het
Cnot11 T A 1: 39,579,139 (GRCm39) S335T probably benign Het
Dcaf11 A G 14: 55,806,581 (GRCm39) S461G probably damaging Het
Dlst G A 12: 85,179,413 (GRCm39) M417I probably damaging Het
Dock4 A C 12: 40,779,937 (GRCm39) I612L probably benign Het
Endod1 A G 9: 14,268,489 (GRCm39) V332A possibly damaging Het
F830045P16Rik T C 2: 129,314,639 (GRCm39) T213A possibly damaging Het
Gm5773 A T 3: 93,681,065 (GRCm39) I246F probably damaging Het
Gml2 T A 15: 74,695,946 (GRCm39) D113E possibly damaging Het
Grik1 T C 16: 87,803,265 (GRCm39) E309G probably benign Het
Hectd1 A T 12: 51,823,355 (GRCm39) I1013K probably damaging Het
Kcmf1 T C 6: 72,835,863 (GRCm39) E22G probably damaging Het
Kdm5b T A 1: 134,528,375 (GRCm39) C361S probably damaging Het
Kif21b T C 1: 136,090,561 (GRCm39) S1150P probably damaging Het
Man2b1 G A 8: 85,821,800 (GRCm39) V701M probably damaging Het
Marchf10 T C 11: 105,281,488 (GRCm39) R266G probably damaging Het
Milr1 A G 11: 106,645,848 (GRCm39) Y130C probably damaging Het
Nampt A G 12: 32,883,042 (GRCm39) T76A possibly damaging Het
Nek10 A G 14: 14,827,059 (GRCm38) N86D possibly damaging Het
Nms T G 1: 38,983,192 (GRCm39) probably null Het
Or10w1 T A 19: 13,632,376 (GRCm39) C194* probably null Het
Parp14 A G 16: 35,678,658 (GRCm39) S437P probably damaging Het
Pif1 A G 9: 65,496,377 (GRCm39) M226V probably benign Het
Rnf169 T C 7: 99,592,204 (GRCm39) R216G probably benign Het
Rorb T C 19: 18,937,778 (GRCm39) K307R probably damaging Het
Scube2 T C 7: 109,430,882 (GRCm39) D439G probably damaging Het
Serpinb8 T C 1: 107,534,727 (GRCm39) V266A probably damaging Het
Strip2 A G 6: 29,927,633 (GRCm39) E226G probably damaging Het
Trim23 A G 13: 104,324,618 (GRCm39) D212G possibly damaging Het
Vmn1r172 T A 7: 23,359,673 (GRCm39) V186D possibly damaging Het
Vwde A T 6: 13,186,803 (GRCm39) C895S probably damaging Het
Zswim8 C A 14: 20,767,933 (GRCm39) 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
R0905:Bsph1 UTSW 7 13,184,839 (GRCm39) start codon destroyed probably benign 0.33
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'- TTGGCTTGATGCTAGGCAGCTC -3'
(R):5'- CAGCAACAAAGAAGTTGTGTGCCTC -3'

Sequencing Primer
(F):5'- ctctcctttccatccttctgac -3'
(R):5'- TTTCACAACGGAAGTTGCTC -3'
Posted On 2013-11-18