Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:Bsph1'

237965

Institutional Source

Beutler Lab

Gene Symbol

Bsph1

Ensembl Gene

ENSMUSG00000074378

Gene Name

binder of sperm protein homolog 1

Synonyms

LOC330470

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13184766-13207374 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 13204254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098811] [ENSMUST00000204715]

AlphaFold

Q3UW26

Predicted Effect

probably null
Transcript: ENSMUST00000098811

SMART Domains

Protein: ENSMUSP00000096408
Gene: ENSMUSG00000074378

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000144997
Gene: ENSMUSG00000074378

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 78,747,839 (GRCm39)	G870A	probably damaging	Het
Adamtsl2	T	C	2: 26,971,750 (GRCm39)	W12R	probably benign	Het
Celsr1	G	T	15: 85,863,431 (GRCm39)	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,371,070 (GRCm39)	Y355*	probably null	Het
Cry2	T	C	2: 92,242,037 (GRCm39)	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,420,975 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,966,657 (GRCm39)	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603 (GRCm39)	M503K	probably benign	Het
Fam83e	G	T	7: 45,371,607 (GRCm39)	M1I	probably null	Het
Flt4	G	A	11: 49,526,525 (GRCm39)	A835T	probably benign	Het
H2bc15	A	G	13: 21,938,447 (GRCm39)	D52G	probably damaging	Het
Hdac4	T	C	1: 91,903,244 (GRCm39)	S562G	probably null	Het
Icosl	A	G	10: 77,909,759 (GRCm39)	T235A	possibly damaging	Het
Itga6	A	G	2: 71,655,961 (GRCm39)	D295G	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lipa	A	T	19: 34,502,199 (GRCm39)	L15Q	probably benign	Het
Mcc	T	C	18: 44,667,297 (GRCm39)	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,519,970 (GRCm39)		probably null	Het
Mmadhc	A	C	2: 50,178,958 (GRCm39)	C153W	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,060,621 (GRCm39)	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,333,924 (GRCm39)	Q389L	probably benign	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5m5	A	G	2: 85,814,412 (GRCm39)	D76G	probably damaging	Het
Or5p4	A	T	7: 107,680,243 (GRCm39)	M81L	possibly damaging	Het
Or5p50	T	C	7: 107,421,822 (GRCm39)	I285V	probably benign	Het
Pml	T	C	9: 58,142,157 (GRCm39)	N225S	probably benign	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Scap	T	A	9: 110,206,761 (GRCm39)	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,743,908 (GRCm39)	L886P	probably damaging	Het
Sugct	T	C	13: 17,836,851 (GRCm39)	I104V	probably benign	Het
Tmem200c	A	G	17: 69,147,681 (GRCm39)	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tnk2	C	T	16: 32,490,239 (GRCm39)	L381F	probably damaging	Het
Ubr2	C	T	17: 47,254,290 (GRCm39)	V1454I	probably benign	Het
V1ra8	A	C	6: 90,179,944 (GRCm39)	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,417,014 (GRCm39)	M48R	probably benign	Het
Yars1	A	G	4: 129,099,982 (GRCm39)	I227V	probably damaging	Het
Zfp850	C	A	7: 27,688,480 (GRCm39)	R576L	probably benign	Het
Zfpm2	T	A	15: 40,964,579 (GRCm39)	F223I	possibly damaging	Het

Other mutations in Bsph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTTCAGGAGCATAAAACTAGATCTGA -3'
(R):5'- TCTGGAATCAGAAGACAATGCAC -3'

Sequencing Primer
(F):5'- TTGAAGCTACACCCAGTGTG -3'
(R):5'- GGGATCAGTTGACAGTACCTATATG -3'

Posted On

2014-10-02