Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:Hsp90ab1'

574133

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

045482-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45878704-45884187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45880210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 473 (V473A)

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

probably benign
Transcript: ENSMUST00000024739
AA Change: V473A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944
AA Change: V473A

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 damaging
Transcript: ENSMUST00000165127
AA Change: V111A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126239
Gene: ENSMUSG00000023944
AA Change: V111A

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

Meta Mutation Damage Score

0.1952

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (69/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,496,547 (GRCm39)	S118P	unknown	Het
Ahnak	T	A	19: 8,991,977 (GRCm39)	D4420E	probably damaging	Het
Atp5mc2	C	T	15: 102,573,547 (GRCm39)	A90T	possibly damaging	Het
Batf2	A	G	19: 6,221,538 (GRCm39)	Y116C	probably damaging	Het
Cd48	G	A	1: 171,523,493 (GRCm39)	R112H	probably benign	Het
Cdh8	A	T	8: 100,006,192 (GRCm39)	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,458,335 (GRCm39)	S793A	probably benign	Het
Cmip	A	G	8: 117,984,144 (GRCm39)		probably null	Het
Cyp1a2	T	C	9: 57,589,223 (GRCm39)	N197S	probably benign	Het
Diaph1	T	C	18: 37,987,555 (GRCm39)	D1067G	probably damaging	Het
Disp2	T	C	2: 118,622,367 (GRCm39)	L1033P	probably damaging	Het
Dock6	G	T	9: 21,713,103 (GRCm39)	A1981D	possibly damaging	Het
Eci3	T	C	13: 35,143,960 (GRCm39)	D55G	probably benign	Het
Eea1	T	A	10: 95,831,432 (GRCm39)	D174E	probably benign	Het
Ehd2	T	C	7: 15,684,581 (GRCm39)	E406G	possibly damaging	Het
Erich3	A	G	3: 154,468,214 (GRCm39)	K889E		Het
Fat4	C	A	3: 38,942,073 (GRCm39)	T322K	probably damaging	Het
Fitm1	A	T	14: 55,814,226 (GRCm39)	I241F	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Gpsm2	T	A	3: 108,587,004 (GRCm39)	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,092,847 (GRCm39)	L75M	possibly damaging	Het
Gvin2	T	A	7: 105,551,247 (GRCm39)	I602F	probably benign	Het
Hmcn1	T	C	1: 150,550,181 (GRCm39)	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,194,033 (GRCm39)	I118T	possibly damaging	Het
Ica1l	T	C	1: 60,081,801 (GRCm39)		probably null	Het
Ighv1-72	A	G	12: 115,721,837 (GRCm39)	S40P	probably damaging	Het
Inhca	T	A	9: 103,127,861 (GRCm39)	E690V	probably benign	Het
Kif28	A	C	1: 179,527,839 (GRCm39)	W771G	probably damaging	Het
Klf13	G	C	7: 63,587,996 (GRCm39)	A100G	probably benign	Het
Klhl5	A	G	5: 65,305,933 (GRCm39)	E300G	possibly damaging	Het
Krt40	A	G	11: 99,433,969 (GRCm39)	S6P	probably benign	Het
Map3k13	C	T	16: 21,741,072 (GRCm39)	R800W	probably damaging	Het
Mef2d	T	C	3: 88,075,038 (GRCm39)	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,301 (GRCm39)	M87K	probably damaging	Het
Mrgprd	T	A	7: 144,875,643 (GRCm39)	H171Q	probably benign	Het
Muc1	C	T	3: 89,137,953 (GRCm39)	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,750,939 (GRCm39)	N570D		Het
Nfs1	T	A	2: 155,968,243 (GRCm39)	I408F	probably damaging	Het
Npdc1	G	T	2: 25,296,257 (GRCm39)	C48F	probably damaging	Het
Or2j3	A	T	17: 38,616,222 (GRCm39)	N43K	possibly damaging	Het
Or52e7	T	C	7: 104,684,417 (GRCm39)	I4T	probably benign	Het
Or52j3	T	C	7: 102,836,587 (GRCm39)	S260P	probably damaging	Het
Or9a2	A	T	6: 41,748,678 (GRCm39)	L185H	probably damaging	Het
Osbpl2	T	C	2: 179,795,114 (GRCm39)	M332T	probably benign	Het
Ostm1	T	A	10: 42,574,213 (GRCm39)	V302D	probably damaging	Het
Otof	T	C	5: 30,542,532 (GRCm39)	D672G	probably benign	Het
Plekha6	A	T	1: 133,201,762 (GRCm39)	K392*	probably null	Het
Pnpla1	A	T	17: 29,077,950 (GRCm39)	D37V	probably damaging	Het
Rasgrp1	A	G	2: 117,129,026 (GRCm39)	S198P	probably damaging	Het
Reln	A	T	5: 22,176,932 (GRCm39)	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,136,759 (GRCm39)	A140E	probably benign	Het
Siglec1	A	G	2: 130,928,015 (GRCm39)	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,747,360 (GRCm39)	S41P	unknown	Het
Slc15a5	A	G	6: 138,050,055 (GRCm39)	M120T	probably benign	Het
Slc25a20	T	G	9: 108,559,172 (GRCm39)	D179E	possibly damaging	Het
Sltm	T	A	9: 70,493,352 (GRCm39)	V783E	probably damaging	Het
Smc1b	C	A	15: 84,953,921 (GRCm39)	R1116L	probably damaging	Het
Smim23	A	G	11: 32,774,471 (GRCm39)	V16A	probably benign	Het
Spata20	A	G	11: 94,374,226 (GRCm39)	V348A	probably benign	Het
Spen	T	C	4: 141,201,052 (GRCm39)	D2525G	probably damaging	Het
St14	A	C	9: 31,019,571 (GRCm39)	N83K	probably benign	Het
Stab1	T	C	14: 30,879,341 (GRCm39)	N713S	probably null	Het
Syne1	A	T	10: 5,168,580 (GRCm39)	L5267H	probably benign	Het
Tenm4	T	C	7: 96,344,010 (GRCm39)	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,213,150 (GRCm39)	H325Y	possibly damaging	Het
Trav23	A	G	14: 54,215,020 (GRCm39)	R78G	probably benign	Het
Ttc39c	A	T	18: 12,776,856 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,070,889 (GRCm39)	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,008,874 (GRCm39)	H53L	probably damaging	Het
Vps13b	A	T	15: 35,379,046 (GRCm39)	L53F	probably damaging	Het
Zfp532	C	T	18: 65,771,984 (GRCm39)	T834M	possibly damaging	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
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
R9569:Hsp90ab1	UTSW	17	45,879,878 (GRCm39)	missense	possibly damaging	0.94
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'- AGTTGGCCACTTGCTCTTTG -3'
(R):5'- AAGAAGTTCTATGAGGCCTTCTC -3'

Sequencing Primer
(F):5'- TGCTCTCACCTACAGGATTAATAC -3'
(R):5'- TAAGACGGACAAGTGTTCTCC -3'

Posted On

2019-09-13