Incidental Mutation 'IGL03131:Bsph1'
ID 410313
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03131
Quality Score
Status
Chromosome 7
Chromosomal Location 13184766-13207374 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13207012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 129 (K129N)
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: K129N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096408
Gene: ENSMUSG00000074378
AA Change: K129N

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: K119N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144997
Gene: ENSMUSG00000074378
AA Change: K119N

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Slc34a3 T G 2: 25,121,246 (GRCm39) D307A probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P probably damaging Het
Other mutations in Bsph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02