Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Hsp90b1'

202388

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

039827-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86526705-86541308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86537609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000020238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020238] [ENSMUST00000061458] [ENSMUST00000075632] [ENSMUST00000129413] [ENSMUST00000217747]

AlphaFold

P08113

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020238
AA Change: V232A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: V232A

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: ENSMUST00000061458

SMART Domains

Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Blast:AAA	336	401	9e-8	BLAST
SCOP:d1jpna2	338	370	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075632

SMART Domains

Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937

Domain	Start	End	E-Value	Type
low complexity region	216	229	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
Pfam:NACHT	337	515	5.4e-10	PFAM
SCOP:d1qqea_	805	1028	2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129178

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174945

Predicted Effect

probably benign
Transcript: ENSMUST00000217747

Meta Mutation Damage Score

0.2668

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Sh3rf3	G	T	10: 58,922,489 (GRCm39)	G522*	probably null	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		probably benign	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
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
R7250:Hsp90b1	UTSW	10	86,527,572 (GRCm39)	missense	unknown
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'- AAACTGTGACCATGCCAGGC -3'
(R):5'- CCAAATCTGGAACAAGCGAG -3'

Sequencing Primer
(F):5'- TGACCATGCCAGGCCTTCC -3'
(R):5'- CTGGAACAAGCGAGTTTTTAAAC -3'

Posted On

2014-06-23