Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:Hspbp1'

582916

Institutional Source

Beutler Lab

Gene Symbol

Hspbp1

Ensembl Gene

ENSMUSG00000063802

Gene Name

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

Synonyms

MMRRC Submission

045597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4660521-4685068 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4663436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 315 (L315P)

Ref Sequence

ENSEMBL: ENSMUSP00000078886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000079970] [ENSMUST00000205374] [ENSMUST00000205952]

AlphaFold

Q99P31

Predicted Effect

probably benign
Transcript: ENSMUST00000064099

SMART Domains

Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
Pfam:SAPS	128	378	4.6e-69	PFAM
Pfam:SAPS	372	519	1.8e-39	PFAM
low complexity region	525	536	N/A	INTRINSIC
low complexity region	618	639	N/A	INTRINSIC
low complexity region	669	681	N/A	INTRINSIC
low complexity region	692	707	N/A	INTRINSIC
low complexity region	842	855	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000079970
AA Change: L315P

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

SMART Domains

Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: L315P

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: ENSMUST00000205374

Predicted Effect

probably benign
Transcript: ENSMUST00000205952

Meta Mutation Damage Score

0.6084

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,183,355	T998A	probably damaging	Het
AI314180	A	G	4: 58,847,038	I508T	possibly damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Akt3	T	A	1: 177,020,107	K465*	probably null	Het
Ankar	T	C	1: 72,688,641	D371G	probably benign	Het
Ankib1	T	G	5: 3,755,734	N178H	possibly damaging	Het
Arhgap10	A	G	8: 77,420,070		probably null	Het
Arhgef4	A	G	1: 34,809,704	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,461,684		probably benign	Het
Camk4	T	C	18: 33,185,032	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,454,092	V139E	possibly damaging	Het
Dhrs13	C	A	11: 78,032,434	N21K	unknown	Het
Dopey1	C	T	9: 86,506,290	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160	Q13*	probably null	Het
Eif2ak1	T	C	5: 143,886,898	S388P	probably damaging	Het
Emilin2	T	C	17: 71,274,979	S251G	probably benign	Het
Eml4	T	A	17: 83,445,950	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,590,080	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,597,672	N264I	probably benign	Het
Gm13124	A	G	4: 144,565,010	F42S	probably damaging	Het
Gzme	A	C	14: 56,119,333	D57E	probably benign	Het
H2-D1	A	G	17: 35,265,933	T257A	probably damaging	Het
Hectd4	C	A	5: 121,343,665	D3092E	possibly damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Insr	A	T	8: 3,192,642	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,639,465	I582N	probably damaging	Het
Lrit2	A	G	14: 37,072,493	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,657,416	N4251K		Het
Mfsd13a	T	C	19: 46,369,277	F290S	probably damaging	Het
Mgam	T	G	6: 40,766,020	N1791K	probably benign	Het
Mroh7	A	T	4: 106,709,702	I450N	probably benign	Het
Mylk	G	A	16: 34,988,987	M1771I	probably benign	Het
Olfr1335	A	T	4: 118,809,494	F123L	probably damaging	Het
Olfr26	A	T	9: 38,855,238	M59L	possibly damaging	Het
Olfr612	A	T	7: 103,539,131	C34*	probably null	Het
Olfr972	T	A	9: 39,874,139	L288*	probably null	Het
Parp14	A	T	16: 35,857,491	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,662,228	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,642,590	T373A	probably damaging	Het
Pdzph1	A	G	17: 58,967,341	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,530,922	N322I	probably benign	Het
Pikfyve	C	T	1: 65,244,426	R741*	probably null	Het
Pip4k2c	A	G	10: 127,208,904	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,166,619	F271L	probably damaging	Het
Prkdc	A	T	16: 15,672,327	Y565F	probably damaging	Het
Prom2	T	C	2: 127,532,781	R612G	probably benign	Het
Psap	T	C	10: 60,299,474	V303A	probably benign	Het
Ptch1	C	T	13: 63,511,714	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,613,530	K446N	probably benign	Het
Slc39a12	T	A	2: 14,494,461	M661K	probably benign	Het
Slc6a16	T	C	7: 45,259,113	L39P	probably benign	Het
Syne1	T	G	10: 5,185,559		probably null	Het
Taar8c	T	C	10: 24,101,866	N16S	probably benign	Het
Tmem98	A	G	11: 80,817,518	T105A	probably damaging	Het
Tmub1	T	A	5: 24,446,013	Y216F	probably damaging	Het
Trim16	T	G	11: 62,820,754	C84G	probably damaging	Het
Ttn	T	A	2: 76,731,229	K28978*	probably null	Het
Usp38	A	G	8: 81,014,246	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,926,982	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,961,302	W61R	probably benign	Het
Whamm	G	T	7: 81,593,850	G607C	probably damaging	Het
Xkr6	G	T	14: 63,819,161	V430F	probably benign	Het
Zfp398	A	G	6: 47,865,818	D268G	probably benign	Het

Other mutations in Hspbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Hspbp1	APN	7	4664751	missense	probably damaging	0.97
IGL02072:Hspbp1	APN	7	4677721	missense	probably damaging	1.00
IGL02548:Hspbp1	APN	7	4681841	splice site	probably benign
IGL02573:Hspbp1	APN	7	4677853	missense	probably damaging	1.00
IGL03177:Hspbp1	APN	7	4664701	critical splice donor site	probably null
IGL03181:Hspbp1	APN	7	4684364	missense	probably damaging	1.00
R0568:Hspbp1	UTSW	7	4684432	nonsense	probably null
R0670:Hspbp1	UTSW	7	4677736	missense	probably damaging	1.00
R3013:Hspbp1	UTSW	7	4663484	missense	probably benign	0.18
R3729:Hspbp1	UTSW	7	4677809	missense	probably damaging	1.00
R3934:Hspbp1	UTSW	7	4664595	missense	probably benign	0.41
R6031:Hspbp1	UTSW	7	4663466	missense	probably benign	0.28
R6031:Hspbp1	UTSW	7	4663466	missense	probably benign	0.28
R6034:Hspbp1	UTSW	7	4677712	missense	probably damaging	1.00
R6034:Hspbp1	UTSW	7	4677712	missense	probably damaging	1.00
R6728:Hspbp1	UTSW	7	4660782	missense	possibly damaging	0.93
R6797:Hspbp1	UTSW	7	4660782	missense	possibly damaging	0.93
R6930:Hspbp1	UTSW	7	4684607	missense	probably benign
R6992:Hspbp1	UTSW	7	4664715	missense	probably benign	0.23
R7459:Hspbp1	UTSW	7	4684578	missense	probably benign	0.00
R7608:Hspbp1	UTSW	7	4660822	missense	possibly damaging	0.73
R7962:Hspbp1	UTSW	7	4681842	critical splice donor site	probably null
R8812:Hspbp1	UTSW	7	4664784	missense	probably benign	0.01
R8971:Hspbp1	UTSW	7	4681859	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- AATACCTCATCAGTGTGATTCTCCC -3'
(R):5'- TATTGCAGGCACCATCCAGAC -3'

Sequencing Primer
(F):5'- ATCAGTGTGATTCTCCCTTCCC -3'
(R):5'- CAGACTTTATATTCACTGCTGGG -3'

Posted On

2019-10-17