Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03205:Bsph2'

413106

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 #

IGL03205

Quality Score

Status

Chromosome

Chromosomal Location

13288791-13304992 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13290301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 120 (D120E)

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: D120E

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

SMART Domains

Protein: ENSMUSP00000104166
Gene: ENSMUSG00000078800
AA Change: D120E

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

probably benign
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casp14	A	G	10: 78,549,173 (GRCm39)	*258Q	probably null	Het
Ccdc54	A	C	16: 50,411,254 (GRCm39)	F4C	possibly damaging	Het
Clcn4	C	T	7: 7,293,419 (GRCm39)	V475M	probably damaging	Het
D630045J12Rik	C	T	6: 38,124,194 (GRCm39)	R1586H	probably damaging	Het
Eml4	T	A	17: 83,761,873 (GRCm39)	S453R	probably damaging	Het
Flt1	T	C	5: 147,636,631 (GRCm39)	K118E	probably benign	Het
Kif20b	A	T	19: 34,936,863 (GRCm39)	E154D	probably damaging	Het
Meis2	C	T	2: 115,694,731 (GRCm39)	V471I	probably benign	Het
Naa16	G	A	14: 79,593,952 (GRCm39)	T371I	possibly damaging	Het
Naa20	A	G	2: 145,745,251 (GRCm39)	T8A	possibly damaging	Het
Or13a28	G	A	7: 140,218,073 (GRCm39)	C153Y	possibly damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Pmel	A	G	10: 128,552,317 (GRCm39)	T384A	probably benign	Het
Ryr3	T	C	2: 112,462,487 (GRCm39)	Y4863C	probably damaging	Het
Slc4a4	G	A	5: 89,297,189 (GRCm39)	V510I	probably benign	Het
Smad3	T	A	9: 63,575,148 (GRCm39)	Y23F	probably benign	Het
Sugt1	G	A	14: 79,834,241 (GRCm39)	A81T	probably damaging	Het
Svs3b	A	T	2: 164,098,181 (GRCm39)	F47I	probably damaging	Het
Thbs4	T	C	13: 92,899,282 (GRCm39)	D571G	probably damaging	Het
Trav15-1-dv6-1	T	C	14: 53,797,485 (GRCm39)	Y45H	probably damaging	Het
Zbtb5	A	T	4: 44,994,949 (GRCm39)	M145K	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
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

2016-08-02