Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Hspbp1'

539943

Institutional Source

Beutler Lab

Gene Symbol

Hspbp1

Ensembl Gene

ENSMUSG00000063802

Gene Name

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

Synonyms

1500019G21Rik

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4663520-4688067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4687606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 2 (R2G)

Ref Sequence

ENSEMBL: ENSMUSP00000146248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079970] [ENSMUST00000205952] [ENSMUST00000206306] [ENSMUST00000206946]

AlphaFold

Q99P31

Predicted Effect

probably benign
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: ENSMUST00000205952

Predicted Effect

probably benign
Transcript: ENSMUST00000206306

Predicted Effect

probably benign
Transcript: ENSMUST00000206946
AA Change: R2G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,466,563 (GRCm39)	D156E	probably benign	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,652,714 (GRCm39)	D41G	probably damaging	Het
Alcam	T	C	16: 52,126,018 (GRCm39)	I100V	probably benign	Het
Atr	T	C	9: 95,748,688 (GRCm39)	I411T	probably benign	Het
Bbs4	T	C	9: 59,230,764 (GRCm39)	S453G	probably benign	Het
Brdt	C	T	5: 107,507,081 (GRCm39)	L494F	probably benign	Het
Ccser1	T	C	6: 62,357,009 (GRCm39)	S816P	probably benign	Het
Cdk10	T	C	8: 123,957,347 (GRCm39)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,484,759 (GRCm39)		probably null	Het
Chst15	T	C	7: 131,870,759 (GRCm39)	I259V	possibly damaging	Het
Cracdl	A	T	1: 37,664,026 (GRCm39)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,142,409 (GRCm39)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,135,151 (GRCm39)	D1343G	probably damaging	Het
Denr	T	C	5: 124,046,250 (GRCm39)	Y27H	probably benign	Het
Dop1a	T	C	9: 86,413,825 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,057,378 (GRCm39)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,108,642 (GRCm39)	Y223*	probably null	Het
Fry	T	C	5: 150,351,695 (GRCm39)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,488,440 (GRCm39)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,654,601 (GRCm39)	D53N	probably damaging	Het
Gje1	G	T	10: 14,593,886 (GRCm39)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,239,586 (GRCm39)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,068,347 (GRCm39)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gys2	A	G	6: 142,405,106 (GRCm39)		probably null	Het
Hace1	A	G	10: 45,494,598 (GRCm39)	H136R	probably damaging	Het
Herc3	T	G	6: 58,893,444 (GRCm39)	V902G	probably damaging	Het
Iqch	T	A	9: 63,387,856 (GRCm39)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,753,962 (GRCm39)		probably benign	Het
Lonrf2	A	T	1: 38,843,417 (GRCm39)	V372D	probably benign	Het
Lpin2	T	C	17: 71,551,786 (GRCm39)	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,148,471 (GRCm39)	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,802,478 (GRCm39)	C1064S	unknown	Het
Mast3	G	A	8: 71,252,115 (GRCm39)	R20*	probably null	Het
Mypn	A	C	10: 62,952,718 (GRCm39)	I174S	probably damaging	Het
Nrg1	G	A	8: 32,308,534 (GRCm39)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,584,338 (GRCm39)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,276,677 (GRCm39)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,791,615 (GRCm39)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,225,395 (GRCm39)	Y266H	probably damaging	Het
Phf3	T	C	1: 30,850,958 (GRCm39)	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,101,114 (GRCm39)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,913,770 (GRCm39)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,044,592 (GRCm39)	V1218A	probably benign	Het
Pold1	A	G	7: 44,191,630 (GRCm39)	S119P	probably benign	Het
Pole	T	A	5: 110,441,156 (GRCm39)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,737,947 (GRCm39)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,557,504 (GRCm39)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	C	A	11: 50,289,207 (GRCm39)	R545L	probably benign	Het
Ryr3	T	A	2: 112,690,699 (GRCm39)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,815,141 (GRCm39)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,234,940 (GRCm39)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,373,771 (GRCm39)	V180A	probably benign	Het
Trav10n	G	A	14: 53,359,947 (GRCm39)	V75M	probably benign	Het
Ttc34	T	C	4: 154,923,543 (GRCm39)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,903,130 (GRCm39)	R216K	probably benign	Het
Vmn2r61	A	G	7: 41,949,364 (GRCm39)	T595A	probably benign	Het
Vmn2r66	T	A	7: 84,661,216 (GRCm39)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,723,839 (GRCm39)	G406R	probably damaging	Het
Zic2	A	T	14: 122,713,869 (GRCm39)	D261V	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
IGL03177:Hspbp1	APN	7	4,667,700 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- AATAGCCATCTGCAGCAGG -3'
(R):5'- TTGCTAAGAGACGAGGACGC -3'

Sequencing Primer
(F):5'- ATCTGCAGCAGGCCTTG -3'
(R):5'- ACGAGGACGCAAGCTGG -3'

Posted On

2018-11-06