Mutagenetix > Incidental Mutation

Incidental Mutation 'R0759:Bsph2'

70004

Institutional Source

Beutler Lab

Gene Symbol

Bsph2

Ensembl Gene

ENSMUSG00000078800

Gene Name

binder of sperm protein homolog 2

Synonyms

Bsph2a, 9230107M04Rik

MMRRC Submission

038939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13288791-13304992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13290652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 76 (Y76N)

Ref Sequence

ENSEMBL: ENSMUSP00000104166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108526] [ENSMUST00000202285]

AlphaFold

Q0Q236

Predicted Effect

probably damaging
Transcript: ENSMUST00000108526
AA Change: Y76N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104166
Gene: ENSMUSG00000078800
AA Change: Y76N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
FN2	34	77	5.79e-6	SMART
FN2	78	126	1.38e-13	SMART

Predicted Effect

silent
Transcript: ENSMUST00000202285

SMART Domains

Protein: ENSMUSP00000144514
Gene: ENSMUSG00000078800

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,384,454 (GRCm39)	F504I	possibly damaging	Het
Amdhd2	C	A	17: 24,380,587 (GRCm39)	C119F	probably benign	Het
Arhgef18	T	G	8: 3,438,822 (GRCm39)		probably benign	Het
C1s1	T	C	6: 124,508,396 (GRCm39)	N531S	probably damaging	Het
Ces1c	G	A	8: 93,857,492 (GRCm39)	Q30*	probably null	Het
Cltc	A	C	11: 86,627,908 (GRCm39)	I80S	probably null	Het
Colec11	A	G	12: 28,644,730 (GRCm39)	S249P	probably damaging	Het
Cxcl16	C	T	11: 70,349,954 (GRCm39)	C24Y	probably damaging	Het
Dennd4c	A	G	4: 86,707,066 (GRCm39)	I348V	probably damaging	Het
Elavl1	C	A	8: 4,339,815 (GRCm39)	D256Y	probably damaging	Het
Fubp1	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGGCGG	3: 151,916,274 (GRCm39)		probably benign	Het
Gm43434	T	G	14: 54,382,952 (GRCm39)		probably benign	Het
Il1a	T	A	2: 129,146,607 (GRCm39)	D162V	probably damaging	Het
Map3k19	A	G	1: 127,745,162 (GRCm39)	Y1227H	possibly damaging	Het
Myb	C	T	10: 21,020,927 (GRCm39)	V501I	probably benign	Het
Nav1	A	G	1: 135,382,998 (GRCm39)	I1238T	possibly damaging	Het
Nr0b2	A	T	4: 133,281,049 (GRCm39)	Q105L	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pdilt	A	T	7: 119,088,707 (GRCm39)	Y431*	probably null	Het
Plg	A	G	17: 12,629,838 (GRCm39)	H624R	probably damaging	Het
Ppl	A	G	16: 4,907,641 (GRCm39)	S885P	probably benign	Het
Ptdss1	T	C	13: 67,135,868 (GRCm39)	L375P	probably damaging	Het
Rrm1	A	G	7: 102,106,768 (GRCm39)	D347G	probably benign	Het
Sbf1	A	T	15: 89,188,919 (GRCm39)	V573E	probably damaging	Het
Slc9a1	T	A	4: 133,143,714 (GRCm39)	I400N	probably damaging	Het
Slurp1	A	G	15: 74,598,808 (GRCm39)	F61S	probably damaging	Het
Smpd3	T	C	8: 106,991,860 (GRCm39)	E231G	probably benign	Het
Sned1	C	T	1: 93,200,286 (GRCm39)	T564M	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trim35	T	A	14: 66,546,236 (GRCm39)	D334E	probably benign	Het
Trp53i11	A	G	2: 93,029,303 (GRCm39)	T101A	possibly damaging	Het
Usp9y	T	C	Y: 1,299,097 (GRCm39)	N2514D	probably damaging	Het
Xpc	A	T	6: 91,475,124 (GRCm39)	Y634N	probably damaging	Het
Zftraf1	A	G	15: 76,530,385 (GRCm39)	*312Q	probably null	Het

Other mutations in Bsph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Bsph2	APN	7	13,290,645 (GRCm39)	missense	probably damaging	1.00
IGL03205:Bsph2	APN	7	13,290,301 (GRCm39)	missense	probably damaging	1.00
R4644:Bsph2	UTSW	7	13,304,942 (GRCm39)	missense	possibly damaging	0.57
R6706:Bsph2	UTSW	7	13,304,972 (GRCm39)	start codon destroyed	probably null	0.04
R9328:Bsph2	UTSW	7	13,290,764 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCTCAGCGAGGCACTGATCTAC -3'
(R):5'- GCTGCCAAAATAGGTGTTCCAAAGTC -3'

Sequencing Primer
(F):5'- AAAATATAGCCCTCCTTGGTGC -3'
(R):5'- ggagtgagtctgaagtctaactg -3'

Posted On

2013-09-30