Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Hsp90ab1'

721878

Institutional Source

Beutler Lab

Gene Symbol

Hsp90ab1

Ensembl Gene

ENSMUSG00000023944

Gene Name

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

Synonyms

Hsp90, Hsp84-1, C81438, Hsp84, Hspcb

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45878704-45884187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45879878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 546 (D546V)

Ref Sequence

ENSEMBL: ENSMUSP00000024739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024739] [ENSMUST00000041353] [ENSMUST00000130406] [ENSMUST00000163966] [ENSMUST00000165127] [ENSMUST00000166469] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]

AlphaFold

P11499

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024739
AA Change: D546V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: D546V

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
HATPase_c	35	189	3.82e-10	SMART
Pfam:HSP90	191	719	5.4e-246	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041353

SMART Domains

Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089

Domain	Start	End	E-Value	Type
Pfam:UAA	62	363	5.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130406

SMART Domains

Protein: ENSMUSP00000119678
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
SCOP:d1byqa_	9	76	2e-32	SMART
PDB:1UYM\|A	14	76	7e-38	PDB
Blast:HATPase_c	35	76	3e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000163966

SMART Domains

Protein: ENSMUSP00000131601
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
SCOP:d1byqa_	9	85	9e-40	SMART
PDB:1UYM\|A	14	85	3e-45	PDB
Blast:HATPase_c	35	85	9e-29	BLAST
low complexity region	93	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165127

SMART Domains

Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:HSP90	37	161	3.8e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166469

SMART Domains

Protein: ENSMUSP00000127338
Gene: ENSMUSG00000023944

Domain	Start	End	E-Value	Type
Pfam:HSP90	4	189	1.3e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223987

Predicted Effect

probably benign
Transcript: ENSMUST00000224341

Predicted Effect

probably benign
Transcript: ENSMUST00000224905

Predicted Effect

probably benign
Transcript: ENSMUST00000226086

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygotes for a gene-trapped null mutation exhibit placental defects including failure to form a placental labyrinth and lack of expansion of allantoic blood vessels. Mutants die around mid-gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,485 (GRCm39)	I64N	probably benign	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		Het

Other mutations in Hsp90ab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Hsp90ab1	APN	17	45,880,490 (GRCm39)	missense	probably damaging	0.96
IGL02234:Hsp90ab1	APN	17	45,880,661 (GRCm39)	missense	probably benign	0.01
IGL02275:Hsp90ab1	APN	17	45,879,364 (GRCm39)	missense	possibly damaging	0.76
IGL03069:Hsp90ab1	APN	17	45,879,954 (GRCm39)	missense	possibly damaging	0.65
IGL03104:Hsp90ab1	APN	17	45,882,449 (GRCm39)	missense	probably damaging	0.99
R0457:Hsp90ab1	UTSW	17	45,879,914 (GRCm39)	missense	probably damaging	1.00
R0787:Hsp90ab1	UTSW	17	45,880,425 (GRCm39)	unclassified	probably benign
R0788:Hsp90ab1	UTSW	17	45,880,425 (GRCm39)	unclassified	probably benign
R0790:Hsp90ab1	UTSW	17	45,880,425 (GRCm39)	unclassified	probably benign
R1142:Hsp90ab1	UTSW	17	45,879,900 (GRCm39)	nonsense	probably null
R1738:Hsp90ab1	UTSW	17	45,882,732 (GRCm39)	missense	probably damaging	1.00
R2109:Hsp90ab1	UTSW	17	45,880,254 (GRCm39)	missense	probably benign	0.32
R2156:Hsp90ab1	UTSW	17	45,880,629 (GRCm39)	missense	possibly damaging	0.82
R2509:Hsp90ab1	UTSW	17	45,880,267 (GRCm39)	missense	probably damaging	1.00
R3686:Hsp90ab1	UTSW	17	45,880,214 (GRCm39)	missense	probably damaging	1.00
R3695:Hsp90ab1	UTSW	17	45,882,403 (GRCm39)	missense	probably damaging	0.98
R3700:Hsp90ab1	UTSW	17	45,882,440 (GRCm39)	missense	possibly damaging	0.69
R4968:Hsp90ab1	UTSW	17	45,881,962 (GRCm39)	missense	probably benign	0.05
R5809:Hsp90ab1	UTSW	17	45,881,575 (GRCm39)	unclassified	probably benign
R6833:Hsp90ab1	UTSW	17	45,881,393 (GRCm39)	missense	probably benign
R6834:Hsp90ab1	UTSW	17	45,881,393 (GRCm39)	missense	probably benign
R7392:Hsp90ab1	UTSW	17	45,879,974 (GRCm39)	missense	probably benign	0.10
R7400:Hsp90ab1	UTSW	17	45,880,210 (GRCm39)	missense	probably benign	0.04
R7584:Hsp90ab1	UTSW	17	45,881,197 (GRCm39)	missense	probably damaging	1.00
R7834:Hsp90ab1	UTSW	17	45,882,091 (GRCm39)	missense	possibly damaging	0.85
R7851:Hsp90ab1	UTSW	17	45,881,378 (GRCm39)	missense	probably benign	0.17
R7977:Hsp90ab1	UTSW	17	45,882,532 (GRCm39)	missense	probably damaging	1.00
R7987:Hsp90ab1	UTSW	17	45,882,532 (GRCm39)	missense	probably damaging	1.00
R8115:Hsp90ab1	UTSW	17	45,880,201 (GRCm39)	missense	possibly damaging	0.64
R8525:Hsp90ab1	UTSW	17	45,880,726 (GRCm39)	missense	probably benign	0.09
R9046:Hsp90ab1	UTSW	17	45,879,969 (GRCm39)	missense	probably damaging	1.00
R9378:Hsp90ab1	UTSW	17	45,881,680 (GRCm39)	missense	probably damaging	1.00
R9610:Hsp90ab1	UTSW	17	45,880,600 (GRCm39)	missense	possibly damaging	0.83
R9611:Hsp90ab1	UTSW	17	45,880,600 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ACCTTACTAAGATGGCAGGCAG -3'
(R):5'- AAAGAGCAAGTGGCCAACTC -3'

Sequencing Primer
(F):5'- CCTTACATGCTCTGGAGACTGAAG -3'
(R):5'- AAGTGGCCAACTCTGCCTTTG -3'

Posted On

2022-08-09