Incidental Mutation 'R5571:Bsph1'
ID 435665
Institutional Source Beutler Lab
Gene Symbol Bsph1
Ensembl Gene ENSMUSG00000074378
Gene Name binder of sperm protein homolog 1
Synonyms LOC330470
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5571 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 13184766-13207374 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to G at 13184840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1 (M1R)
Ref Sequence ENSEMBL: ENSMUSP00000144997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098811] [ENSMUST00000204715]
AlphaFold Q3UW26
Predicted Effect probably null
Transcript: ENSMUST00000098811
AA Change: M1R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096408
Gene: ENSMUSG00000074378
AA Change: M1R

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 null
Transcript: ENSMUST00000204715
AA Change: M1R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144997
Gene: ENSMUSG00000074378
AA Change: M1R

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bax A G 7: 45,111,315 (GRCm39) S184P probably damaging Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown 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
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
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'- ACAGACTTGATCTAGCTCTGC -3'
(R):5'- GCTAGCTTTGAACCTTTTGGAG -3'

Sequencing Primer
(F):5'- aggagaggagagATGACA -3'
(R):5'- AAGTCAGGGTGGCCTCTC -3'
Posted On 2016-10-24