Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Hsp90aa1'

685166

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9004 (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 110692611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 584 (V584A)

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: V584A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: V584A

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: V584A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: V584A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,618,335		probably benign	Het
2310057N15Rik	C	A	16: 88,774,098	C18F	probably damaging	Het
Abca7	T	A	10: 80,005,649	M941K	probably damaging	Het
Abcd2	A	G	15: 91,190,848	I254T	probably benign	Het
Abcg8	C	A	17: 84,697,362	T519K	probably benign	Het
Adcy9	A	G	16: 4,288,514	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,225,691	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,552,610	D529G	probably damaging	Het
Ascc3	T	A	10: 50,842,180	C1990S	probably benign	Het
BC034090	T	A	1: 155,226,392	N42I	possibly damaging	Het
Bptf	G	A	11: 107,054,887	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,041,679	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,958,499	N268D	probably benign	Het
Cep152	T	C	2: 125,611,100	S351G	probably benign	Het
Chrm1	T	C	19: 8,678,545	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,572,231	D454E	probably benign	Het
Dmbt1	T	C	7: 131,112,069	L1622P	unknown	Het
Eif2s2	A	G	2: 154,878,484	Y172H	probably benign	Het
Ell	T	A	8: 70,578,954	S101T	probably damaging	Het
Faf1	A	G	4: 109,841,353	T337A	probably benign	Het
Fhad1	A	T	4: 141,922,424		probably benign	Het
Gen1	T	C	12: 11,255,021		probably benign	Het
Gfap	A	G	11: 102,891,442	I414T	probably benign	Het
Ginm1	A	C	10: 7,775,255	V129G	probably damaging	Het
Helq	C	T	5: 100,778,732		probably benign	Het
Hoxb3	A	G	11: 96,346,311	D405G	possibly damaging	Het
Iglc2	T	C	16: 19,198,675	K59R	probably benign	Het
Inhba	T	C	13: 16,026,941	S363P	probably benign	Het
Kif1c	A	G	11: 70,725,132	K656E	probably benign	Het
Mroh4	G	T	15: 74,614,322	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Naaladl1	C	A	19: 6,105,935	D46E	probably damaging	Het
Nbea	C	T	3: 56,002,938	V1279I	probably benign	Het
Nceh1	T	A	3: 27,239,577	D161E	possibly damaging	Het
Nck2	A	T	1: 43,554,350	N239I		Het
Nlrx1	C	T	9: 44,256,347	R751H	probably benign	Het
Olfr1116	T	A	2: 87,269,351	F190Y	possibly damaging	Het
Olfr146	C	A	9: 39,019,284	V86L	probably benign	Het
Olfr910	A	G	9: 38,539,234	Y113C	probably benign	Het
Oscar	A	T	7: 3,616,041	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,936,409	I511F	probably damaging	Het
Pappa2	T	C	1: 158,936,948	D331G	possibly damaging	Het
Pde4c	C	T	8: 70,746,866	S265L	possibly damaging	Het
Pex1	A	G	5: 3,612,914	S502G	probably benign	Het
Pigl	A	G	11: 62,512,953	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,580,447	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,543,372	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,031,528	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,551,023	Y11H	probably damaging	Het
Prss54	C	A	8: 95,565,509	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,841,861	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,766,394	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,821,775		probably benign	Het
Sdad1	T	C	5: 92,291,961	T402A	probably benign	Het
Stk32c	T	C	7: 139,122,943	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,177,963	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,796,711	E105V	probably benign	Het
Tlk1	A	G	2: 70,721,946	I520T	probably damaging	Het
Tmf1	A	G	6: 97,175,777	V445A	probably benign	Het
Tomm6	T	C	17: 47,687,908	D40G	possibly damaging	Het
Traf6	C	A	2: 101,690,098	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,779,458	H150R		Het
Ube2g2	A	T	10: 77,643,600	M126L	probably benign	Het
Unc45b	A	G	11: 82,928,689	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,846,913	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,413,167	L112F		Het
Wwc2	A	C	8: 47,920,697	L45V	probably damaging	Het
Zfp459	A	C	13: 67,408,595	I123R	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
R7732:Hsp90aa1	UTSW	12	110693418	missense	probably damaging	1.00
R8155:Hsp90aa1	UTSW	12	110695394	missense	unknown
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'- CCACCCATATGTGCTTGTGAC -3'
(R):5'- TGATGAGTATTGTGTGCAACAGC -3'

Sequencing Primer
(F):5'- TGTGCTTGTGACAATACAGCACG -3'
(R):5'- TATTGTGTGCAACAGCTGAAG -3'

Posted On

2021-10-11