Mutagenetix > Incidental Mutation

Incidental Mutation 'R7250:Hsp90b1'

563854

Institutional Source

Beutler Lab

Gene Symbol

Hsp90b1

Ensembl Gene

ENSMUSG00000020048

Gene Name

heat shock protein 90, beta (Grp94), member 1

Synonyms

ERp99, gp96, GRP94, tumor rejection antigen (gp96) 1, Tra-1, endoplasmin, 90 kDa, Targ2, Tra1

MMRRC Submission

045350-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7250 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86526705-86541308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86527572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 768 (E768G)

Ref Sequence

ENSEMBL: ENSMUSP00000020238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020238] [ENSMUST00000129413]

AlphaFold

P08113

Predicted Effect

unknown
Transcript: ENSMUST00000020238
AA Change: E768G

SMART Domains

Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: E768G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	22	34	N/A	INTRINSIC
HATPase_c	96	255	4.96e-9	SMART
Pfam:HSP90	257	781	2.5e-233	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129413

SMART Domains

Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048

Domain	Start	End	E-Value	Type
coiled coil region	9	35	N/A	INTRINSIC
Pfam:HSP90	39	373	3.8e-170	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before somite formation with failure of primitive streak formation, absence of the chorion and amnion, and failure of mesoderm formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Actl7b	T	A	4: 56,741,035 (GRCm39)	M108L	probably benign	Het
Adgrf3	T	A	5: 30,400,680 (GRCm39)	I934L	probably damaging	Het
Adprm	A	G	11: 66,932,450 (GRCm39)	V153A	probably benign	Het
Aif1l	G	A	2: 31,859,764 (GRCm39)	V109M	probably damaging	Het
Asphd1	T	A	7: 126,545,942 (GRCm39)	E307V	probably damaging	Het
Ate1	T	A	7: 130,121,701 (GRCm39)		probably benign	Het
Borcs7	A	G	19: 46,688,047 (GRCm39)	H64R	probably damaging	Het
C1qtnf1	A	G	11: 118,339,176 (GRCm39)	*282W	probably null	Het
Cacna1c	A	G	6: 118,574,966 (GRCm39)	C1985R		Het
Cacna1c	A	T	6: 118,673,412 (GRCm39)	V647E		Het
Cacna1d	A	G	14: 29,797,108 (GRCm39)	S1497P	probably damaging	Het
Cacna1e	T	A	1: 154,576,235 (GRCm39)	I133F	possibly damaging	Het
Ccdc63	A	T	5: 122,260,906 (GRCm39)	L206H	probably damaging	Het
Cenatac	A	G	9: 44,323,748 (GRCm39)		probably null	Het
Cspg4b	T	G	13: 113,455,349 (GRCm39)	I465R		Het
D430041D05Rik	T	C	2: 104,086,961 (GRCm39)	T672A	possibly damaging	Het
D630045J12Rik	G	T	6: 38,119,546 (GRCm39)	T1732K	possibly damaging	Het
D930020B18Rik	T	C	10: 121,507,736 (GRCm39)	I158T	probably damaging	Het
Ddx52	G	A	11: 83,835,392 (GRCm39)	G106D	probably benign	Het
Dock2	A	G	11: 34,586,032 (GRCm39)	V550A	probably benign	Het
Dock2	C	T	11: 34,586,120 (GRCm39)	D521N	probably damaging	Het
F13b	T	C	1: 139,444,227 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,908,892 (GRCm39)	K431R	possibly damaging	Het
Fez1	C	T	9: 36,779,090 (GRCm39)	R256C	probably damaging	Het
Gjd4	T	A	18: 9,280,391 (GRCm39)	Q229L	probably benign	Het
Gpr45	T	A	1: 43,071,531 (GRCm39)	I58N	probably damaging	Het
Gstm1	T	A	3: 107,923,709 (GRCm39)	I99F	probably damaging	Het
Gtpbp8	T	A	16: 44,564,225 (GRCm39)	T149S	probably damaging	Het
H2-Ab1	A	G	17: 34,486,481 (GRCm39)	D180G	probably damaging	Het
Hdhd5	A	G	6: 120,494,016 (GRCm39)	I188T	possibly damaging	Het
Hfm1	T	C	5: 107,052,197 (GRCm39)	I300V	probably benign	Het
Hnrnpr	T	G	4: 136,059,746 (GRCm39)	D283E	probably benign	Het
Kcna4	C	A	2: 107,126,663 (GRCm39)	Q466K	possibly damaging	Het
Kcnk6	A	G	7: 28,931,619 (GRCm39)	L97P	probably benign	Het
Kics2	T	C	10: 121,581,376 (GRCm39)	S126P	possibly damaging	Het
Klf5	A	G	14: 99,536,455 (GRCm39)	S9G	probably benign	Het
Kmt2c	C	A	5: 25,504,489 (GRCm39)	K3606N	probably damaging	Het
Kmt2c	T	C	5: 25,514,805 (GRCm39)	T3013A	probably benign	Het
Lancl1	A	G	1: 67,048,458 (GRCm39)	Y207H	possibly damaging	Het
Lipe	G	C	7: 25,088,085 (GRCm39)		probably benign	Het
Lrrc66	T	A	5: 73,768,224 (GRCm39)	H239L	probably benign	Het
Ltbp2	C	T	12: 84,834,166 (GRCm39)	W1441*	probably null	Het
Man2a1	T	C	17: 64,943,583 (GRCm39)	S213P	probably benign	Het
Mapre2	C	T	18: 23,991,119 (GRCm39)	A171V	possibly damaging	Het
Mdn1	T	A	4: 32,695,427 (GRCm39)	D1155E	probably damaging	Het
Mki67	T	C	7: 135,301,053 (GRCm39)	D1327G	possibly damaging	Het
Mx2	T	C	16: 97,348,664 (GRCm39)	I279T	probably damaging	Het
Myo5c	A	G	9: 75,169,497 (GRCm39)	T441A	probably damaging	Het
Nlrp9a	T	G	7: 26,258,143 (GRCm39)	V587G	possibly damaging	Het
Npas2	A	T	1: 39,377,188 (GRCm39)	T517S	probably damaging	Het
Npy1r	T	C	8: 67,157,712 (GRCm39)	S341P	probably benign	Het
Ntm	A	G	9: 29,322,988 (GRCm39)	W11R	probably benign	Het
Nxpe2	A	T	9: 48,238,096 (GRCm39)	I53N	possibly damaging	Het
Onecut2	T	C	18: 64,519,511 (GRCm39)	F443L	probably benign	Het
Or10g6	T	A	9: 39,934,050 (GRCm39)	Y120*	probably null	Het
Or2r2	A	G	6: 42,463,689 (GRCm39)	V146A	probably benign	Het
Or52ac1	A	T	7: 104,245,738 (GRCm39)	Y217N	probably damaging	Het
Parp2	T	A	14: 51,054,801 (GRCm39)	V248E	probably benign	Het
Pcdh12	C	A	18: 38,415,029 (GRCm39)	V699L	probably benign	Het
Pja2	G	A	17: 64,616,451 (GRCm39)	P148L	probably benign	Het
Poglut3	C	T	9: 53,301,821 (GRCm39)	Q158*	probably null	Het
Ppip5k2	T	G	1: 97,673,187 (GRCm39)	D415A	probably benign	Het
Prss47	A	G	13: 65,200,355 (GRCm39)	S74P	probably benign	Het
Ptprg	G	T	14: 12,166,767 (GRCm38)	M723I	probably benign	Het
Qsox2	A	T	2: 26,118,444 (GRCm39)	I109N	probably damaging	Het
Ranbp3l	A	G	15: 9,041,853 (GRCm39)	E217G	probably benign	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rgs12	T	A	5: 35,122,841 (GRCm39)	F208Y	probably damaging	Het
Rin3	C	T	12: 102,334,893 (GRCm39)	T268I	unknown	Het
Rttn	T	A	18: 89,007,647 (GRCm39)	D427E	probably benign	Het
Samd13	G	A	3: 146,352,079 (GRCm39)	P91S	probably benign	Het
Samd9l	T	C	6: 3,374,201 (GRCm39)	D1020G	possibly damaging	Het
Sec62	T	G	3: 30,866,496 (GRCm39)	L201V	possibly damaging	Het
Setdb1	C	T	3: 95,261,852 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,616,708 (GRCm39)	T197S	probably benign	Het
Slc20a1	A	T	2: 129,051,844 (GRCm39)	I618F	possibly damaging	Het
Slc38a3	A	T	9: 107,533,865 (GRCm39)	M186K	probably benign	Het
Slc39a13	T	C	2: 90,893,503 (GRCm39)	T319A	probably benign	Het
Slc44a4	T	C	17: 35,137,520 (GRCm39)		probably null	Het
St3gal1	A	C	15: 66,978,578 (GRCm39)	D314E	possibly damaging	Het
Suclg1	A	G	6: 73,248,074 (GRCm39)	N265S	probably benign	Het
Sult2b1	A	T	7: 45,433,361 (GRCm39)	V2D	unknown	Het
Supv3l1	T	A	10: 62,280,846 (GRCm39)	I182F	probably damaging	Het
Tcp11l2	T	C	10: 84,423,105 (GRCm39)		probably null	Het
Tenm2	C	A	11: 35,963,625 (GRCm39)	L935F	probably damaging	Het
Tnks	T	A	8: 35,318,912 (GRCm39)	I790F	probably damaging	Het
Top2b	C	T	14: 16,420,411 (GRCm38)	T1274I	probably benign	Het
Tpi1	A	T	6: 124,789,441 (GRCm39)	I178N	probably damaging	Het
Trav9d-1	A	T	14: 53,030,153 (GRCm39)	S86C	probably damaging	Het
Treml2	A	G	17: 48,616,155 (GRCm39)	E265G	probably benign	Het
Trpm7	A	T	2: 126,668,685 (GRCm39)	S744T	possibly damaging	Het
Usp33	T	A	3: 152,097,999 (GRCm39)	L909*	probably null	Het
Vcan	A	G	13: 89,869,805 (GRCm39)	I210T	probably damaging	Het
Vcan	A	T	13: 89,879,576 (GRCm39)		probably null	Het
Vsig10l	A	T	7: 43,113,099 (GRCm39)	D17V	probably benign	Het
Zbtb7b	T	A	3: 89,286,976 (GRCm39)	T498S	probably benign	Het
Zfp366	T	A	13: 99,366,076 (GRCm39)	H412Q	probably damaging	Het
Zfp53	C	A	17: 21,729,840 (GRCm39)	D624E	probably damaging	Het
Zfp827	A	T	8: 79,916,721 (GRCm39)	D432V		Het
Zic1	T	C	9: 91,247,028 (GRCm39)	T15A	probably damaging	Het
Zswim8	T	C	14: 20,770,036 (GRCm39)	C1368R	probably damaging	Het

Other mutations in Hsp90b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Hsp90b1	APN	10	86,540,234 (GRCm39)	missense	probably benign	0.40
IGL01671:Hsp90b1	APN	10	86,540,189 (GRCm39)	missense	probably benign	0.07
IGL01673:Hsp90b1	APN	10	86,529,296 (GRCm39)	missense	probably damaging	0.99
IGL02097:Hsp90b1	APN	10	86,527,548 (GRCm39)	unclassified	probably benign
IGL02124:Hsp90b1	APN	10	86,541,222 (GRCm39)	unclassified	probably benign
IGL02257:Hsp90b1	APN	10	86,534,453 (GRCm39)	missense	probably damaging	1.00
IGL02339:Hsp90b1	APN	10	86,537,678 (GRCm39)	missense	probably damaging	1.00
IGL02342:Hsp90b1	APN	10	86,531,603 (GRCm39)	critical splice acceptor site	probably null
R0329:Hsp90b1	UTSW	10	86,530,019 (GRCm39)	missense	probably damaging	1.00
R0330:Hsp90b1	UTSW	10	86,530,019 (GRCm39)	missense	probably damaging	1.00
R0735:Hsp90b1	UTSW	10	86,531,612 (GRCm39)	splice site	probably benign
R1531:Hsp90b1	UTSW	10	86,532,659 (GRCm39)	missense	probably benign	0.02
R1540:Hsp90b1	UTSW	10	86,529,906 (GRCm39)	missense	probably damaging	1.00
R1711:Hsp90b1	UTSW	10	86,530,389 (GRCm39)	missense	probably damaging	1.00
R1797:Hsp90b1	UTSW	10	86,537,609 (GRCm39)	missense	possibly damaging	0.86
R2128:Hsp90b1	UTSW	10	86,531,570 (GRCm39)	missense	probably damaging	1.00
R2129:Hsp90b1	UTSW	10	86,531,570 (GRCm39)	missense	probably damaging	1.00
R2903:Hsp90b1	UTSW	10	86,539,349 (GRCm39)	missense	probably damaging	1.00
R4735:Hsp90b1	UTSW	10	86,529,819 (GRCm39)	missense	probably damaging	1.00
R4749:Hsp90b1	UTSW	10	86,537,672 (GRCm39)	missense	probably damaging	1.00
R5011:Hsp90b1	UTSW	10	86,532,617 (GRCm39)	missense	probably benign	0.37
R5650:Hsp90b1	UTSW	10	86,529,367 (GRCm39)	missense	probably damaging	1.00
R5950:Hsp90b1	UTSW	10	86,537,609 (GRCm39)	missense	possibly damaging	0.86
R6731:Hsp90b1	UTSW	10	86,537,769 (GRCm39)	missense	probably benign	0.01
R6835:Hsp90b1	UTSW	10	86,529,949 (GRCm39)	missense	probably damaging	1.00
R7038:Hsp90b1	UTSW	10	86,531,730 (GRCm39)	missense	probably damaging	0.99
R7343:Hsp90b1	UTSW	10	86,528,047 (GRCm39)	missense	probably damaging	1.00
R8027:Hsp90b1	UTSW	10	86,532,594 (GRCm39)	missense	probably damaging	0.97
R8126:Hsp90b1	UTSW	10	86,530,246 (GRCm39)	missense	probably damaging	0.99
R8336:Hsp90b1	UTSW	10	86,526,968 (GRCm39)	makesense	probably null
R8768:Hsp90b1	UTSW	10	86,541,169 (GRCm39)	critical splice donor site	probably null
R9024:Hsp90b1	UTSW	10	86,541,174 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTGCTTGAAAAGATCTTGTAAACGG -3'
(R):5'- TGCTAGTTTCCCTGTTAAGGC -3'

Sequencing Primer
(F):5'- GATTCCAAGGCTGGTATCAAATGCC -3'
(R):5'- CCCTGTTAAGGCAGATCAGATTGAC -3'

Posted On

2019-06-26