Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01553:Bsph2'

90629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bsph2

Ensembl Gene

ENSMUSG00000078800

Gene Name

binder of sperm protein homolog 2

Synonyms

Bsph2a, 9230107M04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

13288791-13304992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13290645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 78 (T78K)

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: T78K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104166
Gene: ENSMUSG00000078800
AA Change: T78K

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: Q59K

SMART Domains

Protein: ENSMUSP00000144514
Gene: ENSMUSG00000078800
AA Change: Q59K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	T	A	13: 4,244,774 (GRCm39)	H117Q	probably damaging	Het
Arhgap44	T	C	11: 64,943,944 (GRCm39)	N188S	probably damaging	Het
Bach1	T	A	16: 87,519,393 (GRCm39)	I561N	probably damaging	Het
Ccdc178	A	G	18: 22,048,063 (GRCm39)	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,753,072 (GRCm39)		probably benign	Het
Cenpp	C	T	13: 49,618,252 (GRCm39)	V218M	probably damaging	Het
Dnmt3l	A	G	10: 77,899,082 (GRCm39)	S94G	probably benign	Het
Dock7	A	T	4: 98,833,803 (GRCm39)	Y1839*	probably null	Het
Gabra6	T	A	11: 42,206,023 (GRCm39)	T278S	probably damaging	Het
Galnt11	G	A	5: 25,452,718 (GRCm39)	D77N	probably benign	Het
Gm17175	T	C	14: 51,808,279 (GRCm39)	D171G	probably benign	Het
Iqch	T	C	9: 63,408,199 (GRCm39)	N655S	probably benign	Het
Kdm1b	T	A	13: 47,234,024 (GRCm39)	I786N	probably damaging	Het
Macf1	G	A	4: 123,386,956 (GRCm39)	Q976*	probably null	Het
Mbtd1	T	A	11: 93,814,040 (GRCm39)	C228S	probably benign	Het
Myo10	T	C	15: 25,776,415 (GRCm39)	L46P	probably damaging	Het
Niban3	G	T	8: 72,055,546 (GRCm39)	A319S	possibly damaging	Het
Nup133	A	G	8: 124,642,063 (GRCm39)	V800A	possibly damaging	Het
Or5h23	G	T	16: 58,906,685 (GRCm39)	H54N	probably benign	Het
Prkca	C	T	11: 107,948,660 (GRCm39)	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566 (GRCm39)	M565K	probably damaging	Het
Scgn	T	C	13: 24,143,662 (GRCm39)	Q77R	probably benign	Het
Serpinb6b	T	C	13: 33,158,931 (GRCm39)	L44P	probably damaging	Het
Tfrc	T	C	16: 32,447,403 (GRCm39)	V673A	probably benign	Het
Tsfm	G	A	10: 126,864,259 (GRCm39)	T152M	probably benign	Het
Wdfy3	A	T	5: 102,047,897 (GRCm39)	C1803S	probably benign	Het

Other mutations in Bsph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09