Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03177:Hspbp1'

412063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspbp1

Ensembl Gene

ENSMUSG00000063802

Gene Name

HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1

Synonyms

1500019G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL03177

Quality Score

Status

Chromosome

Chromosomal Location

4663520-4688067 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 4667700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079970] [ENSMUST00000079970] [ENSMUST00000205952] [ENSMUST00000205952]

AlphaFold

Q99P31

Predicted Effect

probably null
Transcript: ENSMUST00000079970

SMART Domains

Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
Pfam:Fes1	43	138	2.5e-12	PFAM
SCOP:d1ee4a_	150	302	2e-12	SMART
Blast:ARM	216	256	3e-11	BLAST
Blast:ARM	259	299	4e-13	BLAST
low complexity region	306	342	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000079970

SMART Domains

Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
Pfam:Fes1	43	138	2.5e-12	PFAM
SCOP:d1ee4a_	150	302	2e-12	SMART
Blast:ARM	216	256	3e-11	BLAST
Blast:ARM	259	299	4e-13	BLAST
low complexity region	306	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205812

Predicted Effect

probably null
Transcript: ENSMUST00000205952

Predicted Effect

probably null
Transcript: ENSMUST00000205952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206708

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation show male infertility with an arrest of male meiosis, increased male germ cell apoptosis and azoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	T	C	X: 159,221,259 (GRCm39)	I23T	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anxa7	T	C	14: 20,506,654 (GRCm39)	I451V	probably benign	Het
Capn10	T	C	1: 92,862,704 (GRCm39)	F37L	probably benign	Het
Cyp4f13	A	G	17: 33,165,888 (GRCm39)	I30T	possibly damaging	Het
Ddx27	A	G	2: 166,869,840 (GRCm39)	N392D	possibly damaging	Het
Dhx30	T	C	9: 109,917,078 (GRCm39)	H479R	possibly damaging	Het
Dnah5	A	G	15: 28,295,545 (GRCm39)	Y1426C	probably damaging	Het
Dnajc2	A	G	5: 21,980,079 (GRCm39)		probably benign	Het
Fbxw8	C	A	5: 118,267,045 (GRCm39)		probably benign	Het
Grik5	G	A	7: 24,714,879 (GRCm39)	T705I	probably damaging	Het
H2ac4	T	A	13: 23,935,509 (GRCm39)		probably benign	Het
H2-M3	G	T	17: 37,581,207 (GRCm39)	V19F	possibly damaging	Het
Hapln2	C	A	3: 87,930,078 (GRCm39)	C266F	probably damaging	Het
Jak3	T	A	8: 72,135,014 (GRCm39)	V549D	probably damaging	Het
Mark1	A	G	1: 184,677,104 (GRCm39)	S49P	probably damaging	Het
Mdfic	T	C	6: 15,770,450 (GRCm39)	V152A	probably damaging	Het
Mgat4a	C	A	1: 37,483,968 (GRCm39)	V501L	probably damaging	Het
Mlxip	C	A	5: 123,584,044 (GRCm39)	P536T	possibly damaging	Het
Mrpl2	A	T	17: 46,959,963 (GRCm39)	T213S	probably damaging	Het
Nos1ap	C	A	1: 170,218,299 (GRCm39)		probably null	Het
Or4a74	C	T	2: 89,439,826 (GRCm39)	V207I	probably benign	Het
Or6c1b	T	C	10: 129,272,684 (GRCm39)	M1T	probably null	Het
Or8b50	T	A	9: 38,517,867 (GRCm39)	Y35*	probably null	Het
P2rx2	T	C	5: 110,489,479 (GRCm39)	I251V	probably damaging	Het
Parva	T	A	7: 112,172,140 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,166,493 (GRCm39)	T459I	probably damaging	Het
Prg4	T	A	1: 150,331,354 (GRCm39)		probably benign	Het
Pum3	A	T	19: 27,367,612 (GRCm39)	I639N	probably benign	Het
Rlf	T	A	4: 121,005,276 (GRCm39)	K1235*	probably null	Het
Ryr3	T	A	2: 112,859,016 (GRCm39)	I46F	probably benign	Het
Sall3	A	G	18: 81,016,183 (GRCm39)	S582P	probably benign	Het
Scn3b	A	C	9: 40,181,338 (GRCm39)	Y17S	probably benign	Het
Senp8	A	G	9: 59,644,611 (GRCm39)	C169R	probably damaging	Het
Sgsm1	C	T	5: 113,398,859 (GRCm39)	A1025T	probably damaging	Het
Six1	T	C	12: 73,090,514 (GRCm39)	E217G	possibly damaging	Het
Slc38a8	T	C	8: 120,212,251 (GRCm39)	D364G	probably damaging	Het
Stk10	A	T	11: 32,564,592 (GRCm39)	E801V	probably damaging	Het
Ston2	A	T	12: 91,614,431 (GRCm39)	I659N	probably damaging	Het
Stxbp4	T	C	11: 90,462,579 (GRCm39)	Q331R	probably benign	Het
Synpo2	A	T	3: 122,914,864 (GRCm39)	V54E	probably damaging	Het
Tax1bp1	A	G	6: 52,713,932 (GRCm39)	D237G	possibly damaging	Het
Tmigd1	T	C	11: 76,797,774 (GRCm39)	Y39H	probably benign	Het
Vmn1r15	A	G	6: 57,235,458 (GRCm39)	T109A	probably benign	Het
Vmn1r209	T	C	13: 22,990,024 (GRCm39)	Y222C	possibly damaging	Het
Zfp809	A	G	9: 22,146,347 (GRCm39)	D12G	probably damaging	Het

Other mutations in Hspbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hspbp1	APN	7	4,667,750 (GRCm39)	missense	probably damaging	0.97
IGL02072:Hspbp1	APN	7	4,680,720 (GRCm39)	missense	probably damaging	1.00
IGL02548:Hspbp1	APN	7	4,684,840 (GRCm39)	splice site	probably benign
IGL02573:Hspbp1	APN	7	4,680,852 (GRCm39)	missense	probably damaging	1.00
IGL03181:Hspbp1	APN	7	4,687,363 (GRCm39)	missense	probably damaging	1.00
R0568:Hspbp1	UTSW	7	4,687,431 (GRCm39)	nonsense	probably null
R0670:Hspbp1	UTSW	7	4,680,735 (GRCm39)	missense	probably damaging	1.00
R3013:Hspbp1	UTSW	7	4,666,483 (GRCm39)	missense	probably benign	0.18
R3729:Hspbp1	UTSW	7	4,680,808 (GRCm39)	missense	probably damaging	1.00
R3934:Hspbp1	UTSW	7	4,667,594 (GRCm39)	missense	probably benign	0.41
R6031:Hspbp1	UTSW	7	4,666,465 (GRCm39)	missense	probably benign	0.28
R6031:Hspbp1	UTSW	7	4,666,465 (GRCm39)	missense	probably benign	0.28
R6034:Hspbp1	UTSW	7	4,680,711 (GRCm39)	missense	probably damaging	1.00
R6034:Hspbp1	UTSW	7	4,680,711 (GRCm39)	missense	probably damaging	1.00
R6728:Hspbp1	UTSW	7	4,663,781 (GRCm39)	missense	possibly damaging	0.93
R6797:Hspbp1	UTSW	7	4,663,781 (GRCm39)	missense	possibly damaging	0.93
R6930:Hspbp1	UTSW	7	4,687,606 (GRCm39)	missense	probably benign
R6992:Hspbp1	UTSW	7	4,667,714 (GRCm39)	missense	probably benign	0.23
R7459:Hspbp1	UTSW	7	4,687,577 (GRCm39)	missense	probably benign	0.00
R7525:Hspbp1	UTSW	7	4,666,435 (GRCm39)	missense	probably damaging	1.00
R7608:Hspbp1	UTSW	7	4,663,821 (GRCm39)	missense	possibly damaging	0.73
R7962:Hspbp1	UTSW	7	4,684,841 (GRCm39)	critical splice donor site	probably null
R8812:Hspbp1	UTSW	7	4,667,783 (GRCm39)	missense	probably benign	0.01
R8971:Hspbp1	UTSW	7	4,684,858 (GRCm39)	missense	possibly damaging	0.58

Posted On

2016-08-02