Mutagenetix > Incidental Mutation

Incidental Mutation 'R4644:Bsph2'

351771

Institutional Source

Beutler Lab

Gene Symbol

Bsph2

Ensembl Gene

ENSMUSG00000078800

Gene Name

binder of sperm protein homolog 2

Synonyms

Bsph2a, 9230107M04Rik

MMRRC Submission

041905-MU

Accession Numbers

Essential gene?

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

Stock #

R4644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13288791-13304992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13304942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 11 (V11E)

Ref Sequence

ENSEMBL: ENSMUSP00000104166 (fasta)

Gene Model

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

AlphaFold

Q0Q236

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108526
AA Change: V11E

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104166
Gene: ENSMUSG00000078800
AA Change: V11E

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

unknown
Transcript: ENSMUST00000202285
AA Change: V11E

SMART Domains

Protein: ENSMUSP00000144514
Gene: ENSMUSG00000078800
AA Change: V11E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	G	1: 165,378,930 (GRCm39)		probably null	Het
Ano5	C	A	7: 51,237,433 (GRCm39)	Y702*	probably null	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cflar	T	A	1: 58,770,426 (GRCm39)	I173N	probably damaging	Het
Dgkd	T	C	1: 87,864,016 (GRCm39)	V904A	probably damaging	Het
Dnajc21	T	C	15: 10,464,003 (GRCm39)	D54G	possibly damaging	Het
Doc2a	C	A	7: 126,450,618 (GRCm39)	T298K	probably benign	Het
Dsg1a	A	T	18: 20,473,785 (GRCm39)	I953L	probably benign	Het
Fga	C	A	3: 82,937,573 (GRCm39)	A150E	possibly damaging	Het
Frem3	T	A	8: 81,340,356 (GRCm39)	M883K	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Klhdc4	G	C	8: 122,548,739 (GRCm39)		probably benign	Het
Mgst1	T	C	6: 138,133,368 (GRCm39)	Y50H	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nsmaf	A	G	4: 6,419,940 (GRCm39)		probably benign	Het
Pp2d1	T	C	17: 53,823,015 (GRCm39)	K17R	probably benign	Het
Prss39	C	T	1: 34,541,207 (GRCm39)	T237M	probably damaging	Het
Ptpra	T	C	2: 130,386,078 (GRCm39)	I595T	probably damaging	Het
Ptpre	C	T	7: 135,253,661 (GRCm39)		probably benign	Het
Rictor	C	A	15: 6,807,416 (GRCm39)	C728*	probably null	Het
Scn11a	C	T	9: 119,644,269 (GRCm39)		probably null	Het
Scn1b	A	T	7: 30,817,212 (GRCm39)	L170*	probably null	Het
Semp2l2b	A	G	10: 21,942,660 (GRCm39)	V440A	probably benign	Het
Slc35f3	A	G	8: 127,047,809 (GRCm39)	R50G	possibly damaging	Het
Sorcs3	G	A	19: 48,672,036 (GRCm39)	V412M	probably damaging	Het
Spg11	C	T	2: 121,891,510 (GRCm39)	V1954I	probably benign	Het
Srcap	C	T	7: 127,151,770 (GRCm39)	R2049C	probably damaging	Het
Ssh2	T	C	11: 77,340,402 (GRCm39)	V518A	possibly damaging	Het
Stab1	G	A	14: 30,862,444 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,937,963 (GRCm39)	F1570S	probably benign	Het
Tpr	T	A	1: 150,299,250 (GRCm39)	V1076E	probably benign	Het
Ttn	A	T	2: 76,562,757 (GRCm39)	Y26986*	probably null	Het
Unc45a	C	T	7: 79,978,257 (GRCm39)	A673T	probably damaging	Het
Utp25	A	G	1: 192,810,788 (GRCm39)	Y72H	probably damaging	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
R0759:Bsph2	UTSW	7	13,290,652 (GRCm39)	missense	probably damaging	1.00
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'- GAATCTATGGCTCCCTGCTC -3'
(R):5'- GCTGGCATGTTAGCAAAACC -3'

Sequencing Primer
(F):5'- GCTCTTGATTTGCTTGATTGAAAAG -3'
(R):5'- GCTGGCATGTTAGCAAAACCAAAAC -3'

Posted On

2015-10-08