Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Hsp90aa1'

230609

Institutional Source

Beutler Lab

Gene Symbol

Hsp90aa1

Ensembl Gene

ENSMUSG00000021270

Gene Name

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

Synonyms

Hspca, Hsp86-1, Hsp89, hsp4, Hsp90

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110657470-110662829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110660566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 292 (N292S)

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: N292S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021698
Gene: ENSMUSG00000021270
AA Change: N292S

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: N292S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091921
Gene: ENSMUSG00000021270
AA Change: N292S

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

noncoding transcript
Transcript: ENSMUST00000129005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145255

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

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Atp5f1a	T	C	18: 77,870,017 (GRCm39)	S533P	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fam83b	A	T	9: 76,399,987 (GRCm39)	I372N	probably damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,561,731 (GRCm39)	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pfkm	A	G	15: 98,027,171 (GRCm39)	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Tph1	A	T	7: 46,309,834 (GRCm39)		probably null	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	probably benign	Het

Other mutations in Hsp90aa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02056:Hsp90aa1	APN	12	110,660,449 (GRCm39)	unclassified	probably benign
IGL02243:Hsp90aa1	APN	12	110,661,525 (GRCm39)	missense	probably damaging	1.00
IGL02865:Hsp90aa1	APN	12	110,659,516 (GRCm39)	missense	probably benign	0.11
IGL02965:Hsp90aa1	APN	12	110,662,113 (GRCm39)	start codon destroyed	probably null	0.95
R0827:Hsp90aa1	UTSW	12	110,659,129 (GRCm39)	missense	probably benign	0.38
R1331:Hsp90aa1	UTSW	12	110,659,254 (GRCm39)	missense	probably damaging	1.00
R1498:Hsp90aa1	UTSW	12	110,662,122 (GRCm39)	splice site	probably null
R2039:Hsp90aa1	UTSW	12	110,660,216 (GRCm39)	missense	probably damaging	1.00
R2082:Hsp90aa1	UTSW	12	110,659,261 (GRCm39)	missense	probably damaging	1.00
R2169:Hsp90aa1	UTSW	12	110,659,168 (GRCm39)	missense	probably damaging	0.99
R2194:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R2194:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R2359:Hsp90aa1	UTSW	12	110,661,003 (GRCm39)	critical splice donor site	probably null
R2364:Hsp90aa1	UTSW	12	110,659,187 (GRCm39)	missense	probably damaging	0.99
R2393:Hsp90aa1	UTSW	12	110,659,840 (GRCm39)	missense	probably damaging	1.00
R2398:Hsp90aa1	UTSW	12	110,658,755 (GRCm39)	missense	possibly damaging	0.86
R2435:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R2435:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R2924:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R2924:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R2925:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R2925:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3176:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3176:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3177:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3177:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3276:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3276:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3277:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3277:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3615:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3615:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R3616:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R3616:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R4033:Hsp90aa1	UTSW	12	110,662,114 (GRCm39)	start codon destroyed	possibly damaging	0.59
R4033:Hsp90aa1	UTSW	12	110,662,115 (GRCm39)	critical splice acceptor site	probably null
R4815:Hsp90aa1	UTSW	12	110,661,660 (GRCm39)	missense	possibly damaging	0.45
R4932:Hsp90aa1	UTSW	12	110,660,151 (GRCm39)	missense	probably damaging	1.00
R5117:Hsp90aa1	UTSW	12	110,661,698 (GRCm39)	missense	possibly damaging	0.71
R5555:Hsp90aa1	UTSW	12	110,659,168 (GRCm39)	missense	probably damaging	1.00
R6382:Hsp90aa1	UTSW	12	110,661,951 (GRCm39)	critical splice donor site	probably null
R7024:Hsp90aa1	UTSW	12	110,660,546 (GRCm39)	missense	possibly damaging	0.46
R7324:Hsp90aa1	UTSW	12	110,661,659 (GRCm39)	missense	unknown
R7447:Hsp90aa1	UTSW	12	110,658,562 (GRCm39)	missense	possibly damaging	0.94
R7526:Hsp90aa1	UTSW	12	110,661,728 (GRCm39)	missense	unknown
R7732:Hsp90aa1	UTSW	12	110,659,852 (GRCm39)	missense	probably damaging	1.00
R8155:Hsp90aa1	UTSW	12	110,661,828 (GRCm39)	missense	unknown
R9004:Hsp90aa1	UTSW	12	110,659,045 (GRCm39)	missense	probably damaging	0.99
R9145:Hsp90aa1	UTSW	12	110,662,684 (GRCm39)	critical splice donor site	probably null
Z1177:Hsp90aa1	UTSW	12	110,659,900 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGCTTTCTCTACTGGGC -3'
(R):5'- AGTCAGTGATGATGAGGCTG -3'

Sequencing Primer
(F):5'- CTGGGCTAAGTTACACTTCGAAGC -3'
(R):5'- TCAGTGATGATGAGGCTGAAGAAAAG -3'

Posted On

2014-09-18