Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Hsp90b1'

227856

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

040132-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86526705-86541308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86531570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 421 (D421G)

Ref Sequence

ENSEMBL: ENSMUSP00000020238 (fasta)

Gene Model

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

AlphaFold

P08113

Predicted Effect

probably damaging
Transcript: ENSMUST00000020238
AA Change: D421G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020238
Gene: ENSMUSG00000020048
AA Change: D421G

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

noncoding transcript
Transcript: ENSMUST00000129178

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129413
AA Change: D97G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122710
Gene: ENSMUSG00000020048
AA Change: D97G

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: ENSMUST00000134515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218691

Meta Mutation Damage Score

0.9478

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abhd14a	A	T	9: 106,318,064 (GRCm39)	L125Q	probably null	Het
Abhd17b	T	A	19: 21,658,413 (GRCm39)		probably null	Het
Abo	G	A	2: 26,736,586 (GRCm39)	T61I	probably benign	Het
Adamts15	T	C	9: 30,815,799 (GRCm39)	T686A	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,383,410 (GRCm39)	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Bri3bp	T	A	5: 125,528,735 (GRCm39)	L48*	probably null	Het
Car7	T	A	8: 105,275,605 (GRCm39)	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chst10	A	G	1: 38,904,776 (GRCm39)	Y203H	probably benign	Het
Clca3a1	T	C	3: 144,722,526 (GRCm39)	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342 (GRCm39)	S190A	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Cygb	A	G	11: 116,540,668 (GRCm39)	L106P	probably damaging	Het
Dab2	G	T	15: 6,365,864 (GRCm39)	E87*	probably null	Het
Dcst1	T	A	3: 89,264,852 (GRCm39)	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,813,256 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,558,518 (GRCm39)	S168P	probably benign	Het
Dicer1	G	A	12: 104,688,290 (GRCm39)	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Dock2	T	C	11: 34,618,242 (GRCm39)	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289 (GRCm39)	S107P	possibly damaging	Het
Emb	T	C	13: 117,404,082 (GRCm39)	V278A	probably damaging	Het
Firrm	T	C	1: 163,794,026 (GRCm39)	Y518C	probably damaging	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Galm	T	C	17: 80,490,647 (GRCm39)	I268T	probably benign	Het
Gm5581	A	C	6: 131,145,247 (GRCm39)		noncoding transcript	Het
Gpr6	G	A	10: 40,947,168 (GRCm39)	S138L	possibly damaging	Het
Hesx1	C	A	14: 26,722,802 (GRCm39)	H42Q	possibly damaging	Het
Kctd19	T	C	8: 106,111,804 (GRCm39)	T31A	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,674,863 (GRCm39)		probably benign	Het
Lin28a	T	A	4: 133,745,465 (GRCm39)	I43F	probably benign	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	A	G	4: 123,262,608 (GRCm39)		probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Megf8	T	C	7: 25,030,140 (GRCm39)	L425P	probably damaging	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Mybpc1	T	G	10: 88,387,314 (GRCm39)	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,885 (GRCm39)	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,786,343 (GRCm39)	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,218,414 (GRCm39)	A250E	possibly damaging	Het
Nherf1	A	T	11: 115,067,270 (GRCm39)	I174F	probably damaging	Het
Nipsnap1	C	A	11: 4,838,932 (GRCm39)	N119K	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Or10ab4	T	A	7: 107,655,111 (GRCm39)	N307K	probably benign	Het
Or11h23	A	G	14: 50,948,093 (GRCm39)	Y102C	probably damaging	Het
Or2t48	T	C	11: 58,420,437 (GRCm39)	D125G	probably damaging	Het
Pald1	A	G	10: 61,184,085 (GRCm39)		probably null	Het
Palld	T	C	8: 62,330,395 (GRCm39)	S161G	probably benign	Het
Paqr9	T	A	9: 95,443,122 (GRCm39)	F371I	probably benign	Het
Pear1	A	T	3: 87,665,666 (GRCm39)	C120*	probably null	Het
Pla2g4e	A	T	2: 120,013,292 (GRCm39)	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,516,902 (GRCm39)	Y61F	probably benign	Het
Polh	G	A	17: 46,499,014 (GRCm39)	Q234*	probably null	Het
Prkce	T	A	17: 86,803,463 (GRCm39)	M454K	possibly damaging	Het
Proser1	C	A	3: 53,385,366 (GRCm39)	T416K	probably benign	Het
Prr14l	G	T	5: 32,989,172 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rp1l1	T	A	14: 64,266,415 (GRCm39)	V667D	possibly damaging	Het
Rpp40	A	T	13: 36,082,604 (GRCm39)	C256*	probably null	Het
Rps6ka5	A	G	12: 100,644,797 (GRCm39)	L51P	probably damaging	Het
Rtp2	C	T	16: 23,746,457 (GRCm39)	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,508,715 (GRCm39)		probably benign	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc6a21	T	G	7: 44,932,197 (GRCm39)		probably null	Het
Smo	A	G	6: 29,757,313 (GRCm39)	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,560,621 (GRCm39)	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tasp1	T	C	2: 139,890,164 (GRCm39)	K71E	possibly damaging	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,764,911 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,793,105 (GRCm39)	N459D	probably benign	Het
Ube2k	A	G	5: 65,752,269 (GRCm39)	T151A	probably damaging	Het
Ubr1	T	C	2: 120,773,034 (GRCm39)	E402G	probably benign	Het
Ulk4	T	A	9: 120,981,248 (GRCm39)	I897F	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Wdr17	C	T	8: 55,085,416 (GRCm39)	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,290,918 (GRCm39)	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681 (GRCm39)	S731C	possibly 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
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'- CTGAAGAGTCTCACGGGAAAC -3'
(R):5'- GTTTGTACCCACATCTGCAC -3'

Sequencing Primer
(F):5'- GGAGATCATCGGAATCCACCTG -3'
(R):5'- CACATCTGCACCTCGAGG -3'

Posted On

2014-09-17