Mutagenetix > Incidental Mutation

Incidental Mutation 'R7732:Hsp90aa1'

595928

Institutional Source

Beutler Lab

Gene Symbol

Hsp90aa1

Ensembl Gene

ENSMUSG00000021270

Gene Name

heat shock protein 90, alpha (cytosolic), class A member 1

Synonyms

hsp4, Hspca, Hsp90, Hsp86-1, Hsp89

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110690605-110702728 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110693418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 412 (V412A)

Ref Sequence

ENSEMBL: ENSMUSP00000091921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021698] [ENSMUST00000094361] [ENSMUST00000124156] [ENSMUST00000149189] [ENSMUST00000155242]

AlphaFold

P07901

Predicted Effect

probably damaging
Transcript: ENSMUST00000021698
AA Change: V412A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: V412A

Domain	Start	End	E-Value	Type
HATPase_c	40	194	2.94e-11	SMART
Pfam:HSP90	196	733	6.7e-272	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000094361
AA Change: V412A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: V412A

Domain	Start	End	E-Value	Type
HATPase_c	40	194	2.94e-11	SMART
Pfam:HSP90	196	728	2e-245	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124156

SMART Domains

Protein: ENSMUSP00000121138
Gene: ENSMUSG00000021270

Domain	Start	End	E-Value	Type
PDB:3HHU\|B	1	103	1e-69	PDB
SCOP:d1byqa_	11	103	5e-48	SMART
Blast:HATPase_c	40	103	7e-39	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149189

SMART Domains

Protein: ENSMUSP00000114201
Gene: ENSMUSG00000021270

Domain	Start	End	E-Value	Type
PDB:3HHU\|B	1	98	6e-66	PDB
SCOP:d1byqa_	11	98	2e-45	SMART
Blast:HATPase_c	40	98	2e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155242

SMART Domains

Protein: ENSMUSP00000118189
Gene: ENSMUSG00000021270

Domain	Start	End	E-Value	Type
HATPase_c	40	194	2.94e-11	SMART

Meta Mutation Damage Score

0.4338

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male sterility associated with arrested male meiosis and male germ cell apoptosis. Mice homozygous for a transgenic gene disruption exhibit male sterility and small testis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,191,248	S121T	possibly damaging	Het
Alpk1	T	C	3: 127,684,392	M69V		Het
Ap3m2	G	T	8: 22,797,089	D192E	probably benign	Het
Arel1	A	G	12: 84,927,889	V493A	probably benign	Het
Arhgap27	T	C	11: 103,340,043	H140R	probably benign	Het
Bcat2	C	T	7: 45,585,193	T166M	possibly damaging	Het
Brd4	C	A	17: 32,221,412	A318S	unknown	Het
Cabp4	T	A	19: 4,135,995	T270S	probably benign	Het
Cd22	G	A	7: 30,870,057	R545C	probably damaging	Het
Cdc23	C	A	18: 34,636,702		probably null	Het
Chst4	G	A	8: 110,029,882	Q450*	probably null	Het
Ctsc	G	A	7: 88,297,159	R132Q	probably damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Cyp2b19	A	G	7: 26,771,344	D470G	possibly damaging	Het
Dcc	C	T	18: 71,446,435	G689D	probably benign	Het
Disc1	G	T	8: 125,250,975	G779*	probably null	Het
Dock1	T	G	7: 134,744,970	D210E	probably benign	Het
Dynlt1a	A	G	17: 6,314,945	V14A	probably benign	Het
Epha10	A	G	4: 124,915,299	D779G		Het
Eprs	A	G	1: 185,372,939	H137R	probably benign	Het
Eps15l1	A	C	8: 72,380,976	L447R	probably damaging	Het
Esyt1	A	G	10: 128,521,825		probably null	Het
Fam221a	A	G	6: 49,372,629	K43E	probably benign	Het
Fanci	A	G	7: 79,412,652	S309G	possibly damaging	Het
Fbxo48	T	A	11: 16,953,601	W76R	probably damaging	Het
Fgd4	A	G	16: 16,484,595	V32A	probably benign	Het
Foxe1	A	T	4: 46,345,287	D365V	unknown	Het
Gabrd	C	T	4: 155,385,618	R378H	probably benign	Het
Gm3417	A	G	17: 14,967,685	V109A	probably benign	Het
Greb1	A	G	12: 16,673,863	S1862P	probably damaging	Het
H2al2b	T	C	Y: 2,720,436	H80R	possibly damaging	Het
Hectd4	T	C	5: 121,336,629	V2771A	probably benign	Het
Hoxa11	A	T	6: 52,243,435	F289L	probably damaging	Het
Igsf11	A	G	16: 39,008,798	Q77R	probably damaging	Het
Lrig1	C	A	6: 94,626,377	M263I	probably benign	Het
Ms4a14	C	T	19: 11,301,683	M1170I	probably benign	Het
Ndufs7	G	A	10: 80,253,784		probably null	Het
Nectin4	A	T	1: 171,386,678	E467V	probably benign	Het
Olfr933	A	G	9: 38,976,264	E196G	probably damaging	Het
Otogl	G	A	10: 107,806,664	H1302Y	probably benign	Het
Pigg	A	G	5: 108,318,975	S241G	probably benign	Het
Pom121l12	T	A	11: 14,599,843	V183D	probably damaging	Het
Prickle2	T	A	6: 92,411,224	E455V	probably damaging	Het
Ptpn4	A	C	1: 119,692,802	V488G	probably benign	Het
Ranbp10	A	G	8: 105,773,091	I502T	probably benign	Het
Raph1	T	A	1: 60,533,288	Q40L	possibly damaging	Het
Rgs22	A	T	15: 36,025,981	C1056S	probably damaging	Het
Serpinb6b	G	A	13: 32,968,607	S33N	probably damaging	Het
Serpinb6d	A	G	13: 33,669,099	N158S	probably benign	Het
Serping1	A	T	2: 84,770,104	V298D	probably damaging	Het
Sgsm1	T	A	5: 113,266,330	H637L	probably benign	Het
Sh3rf2	G	T	18: 42,101,688	V179L	probably damaging	Het
Slc1a3	T	C	15: 8,650,988	T129A	probably benign	Het
Slit1	T	A	19: 41,604,408	Y1202F	probably benign	Het
Spsb2	T	C	6: 124,809,693	S130P	probably damaging	Het
Sulf1	A	G	1: 12,842,789	D749G	probably benign	Het
Taok3	A	G	5: 117,193,748	E10G	possibly damaging	Het
Tbl3	G	T	17: 24,704,162	A368D	probably benign	Het
Tdh	T	A	14: 63,496,058	H127L	probably damaging	Het
Tmem205	C	A	9: 21,927,407		probably null	Het
Tmem30a	A	C	9: 79,780,544	F114L	possibly damaging	Het
Tmem55b	C	T	14: 50,930,633	G48D	possibly damaging	Het
Tmprss15	T	C	16: 79,003,420	K607E	probably benign	Het
Tnxb	A	T	17: 34,694,280	D1756V	probably damaging	Het
Trhde	A	G	10: 114,788,064	F312L	probably benign	Het
Ttn	G	A	2: 76,826,449	P12494L	probably null	Het
Vmn2r61	A	G	7: 42,266,673	R237G	probably benign	Het
Vps13c	A	T	9: 67,940,516	N2187Y	probably damaging	Het
Wdr64	A	G	1: 175,789,929	T692A	probably benign	Het
Whamm	A	G	7: 81,571,424	N35D	probably damaging	Het
Wnt2	T	C	6: 18,023,336	S105G	probably damaging	Het
Zfp108	T	A	7: 24,261,527	H514Q	probably benign	Het
Znfx1	T	C	2: 167,042,669	K888E	possibly damaging	Het
Zzz3	T	C	3: 152,448,842	Y577H	probably damaging	Het

Other mutations in Hsp90aa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Hsp90aa1	APN	12	110694015	unclassified	probably benign
IGL02243:Hsp90aa1	APN	12	110695091	missense	probably damaging	1.00
IGL02865:Hsp90aa1	APN	12	110693082	missense	probably benign	0.11
IGL02965:Hsp90aa1	APN	12	110695679	start codon destroyed	probably null	0.95
R0827:Hsp90aa1	UTSW	12	110692695	missense	probably benign	0.38
R1331:Hsp90aa1	UTSW	12	110692820	missense	probably damaging	1.00
R1498:Hsp90aa1	UTSW	12	110695688	splice site	probably null
R2039:Hsp90aa1	UTSW	12	110693782	missense	probably damaging	1.00
R2082:Hsp90aa1	UTSW	12	110692827	missense	probably damaging	1.00
R2102:Hsp90aa1	UTSW	12	110694132	missense	probably damaging	0.99
R2169:Hsp90aa1	UTSW	12	110692734	missense	probably damaging	0.99
R2194:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R2194:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R2359:Hsp90aa1	UTSW	12	110694569	critical splice donor site	probably null
R2364:Hsp90aa1	UTSW	12	110692753	missense	probably damaging	0.99
R2393:Hsp90aa1	UTSW	12	110693406	missense	probably damaging	1.00
R2398:Hsp90aa1	UTSW	12	110692321	missense	possibly damaging	0.86
R2435:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R2435:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R2924:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R2924:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R2925:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R2925:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3176:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3176:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3177:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3177:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3276:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3276:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3277:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3277:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3615:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3615:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R3616:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R3616:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R4033:Hsp90aa1	UTSW	12	110695680	start codon destroyed	possibly damaging	0.59
R4033:Hsp90aa1	UTSW	12	110695681	critical splice acceptor site	probably null
R4815:Hsp90aa1	UTSW	12	110695226	missense	possibly damaging	0.45
R4932:Hsp90aa1	UTSW	12	110693717	missense	probably damaging	1.00
R5117:Hsp90aa1	UTSW	12	110695264	missense	possibly damaging	0.71
R5555:Hsp90aa1	UTSW	12	110692734	missense	probably damaging	1.00
R6382:Hsp90aa1	UTSW	12	110695517	critical splice donor site	probably null
R7024:Hsp90aa1	UTSW	12	110694112	missense	possibly damaging	0.46
R7324:Hsp90aa1	UTSW	12	110695225	missense	unknown
R7447:Hsp90aa1	UTSW	12	110692128	missense	possibly damaging	0.94
R7526:Hsp90aa1	UTSW	12	110695294	missense	unknown
R8155:Hsp90aa1	UTSW	12	110695394	missense	unknown
R9004:Hsp90aa1	UTSW	12	110692611	missense	probably damaging	0.99
R9145:Hsp90aa1	UTSW	12	110696250	critical splice donor site	probably null
Z1177:Hsp90aa1	UTSW	12	110693466	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAAGCTGAAGCACAAGC -3'
(R):5'- GACAGAAAATCCCATTCGTTGG -3'

Sequencing Primer
(F):5'- GGAAAGCCATTTATGAAGCATTAGCC -3'
(R):5'- GAGACGGGGTTTGCCTAAC -3'

Posted On

2019-11-12