Mutagenetix > Incidental Mutations

Incidental Mutation 'R0787:Hsp90ab1'

76930

Institutional Source

Beutler Lab

Gene Symbol

Hsp90ab1

Ensembl Gene

ENSMUSG00000023944

Gene Name

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

Synonyms

Hspcb, Hsp84, Hsp90, C81438, Hsp84-1

MMRRC Submission

038967-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0787 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

45567775-45573271 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

ACTTCTT to ACTT at 45569499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153497 (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

SMART Domains

Protein: ENSMUSP00000024739
Gene: ENSMUSG00000023944

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

noncoding transcript
Transcript: ENSMUST00000145205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151306

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

noncoding transcript
Transcript: ENSMUST00000224559

Predicted Effect

probably benign
Transcript: ENSMUST00000224905

Predicted Effect

probably benign
Transcript: ENSMUST00000226086

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225226

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	A	4: 107,890,129	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493		probably null	Het
Abca8a	T	A	11: 110,042,988	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516		probably null	Het
Adamts16	A	T	13: 70,738,829	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901		probably benign	Het
Hltf	A	T	3: 20,106,446	D759V	probably damaging	Het
Isg15	C	T	4: 156,199,939	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630		probably benign	Het
Phgdh	A	G	3: 98,334,549	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470		probably null	Het
Rasal2	A	G	1: 157,158,696	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976	T337A	probably benign	Het
St5	G	T	7: 109,525,620	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,789,561	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,370,484	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421		probably benign	Het
Ubxn7	T	A	16: 32,381,763		probably benign	Het
Vmn2r13	A	G	5: 109,156,847	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548	I227N	unknown	Het

Other mutations in Hsp90ab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Hsp90ab1	APN	17	45569564	missense	probably damaging	0.96
IGL02234:Hsp90ab1	APN	17	45569735	missense	probably benign	0.01
IGL02275:Hsp90ab1	APN	17	45568438	missense	possibly damaging	0.76
IGL03069:Hsp90ab1	APN	17	45569028	missense	possibly damaging	0.65
IGL03104:Hsp90ab1	APN	17	45571523	missense	probably damaging	0.99
R0457:Hsp90ab1	UTSW	17	45568988	missense	probably damaging	1.00
R0788:Hsp90ab1	UTSW	17	45569499	unclassified	probably benign
R0790:Hsp90ab1	UTSW	17	45569499	unclassified	probably benign
R1142:Hsp90ab1	UTSW	17	45568974	nonsense	probably null
R1738:Hsp90ab1	UTSW	17	45571806	missense	probably damaging	1.00
R2109:Hsp90ab1	UTSW	17	45569328	missense	probably benign	0.32
R2156:Hsp90ab1	UTSW	17	45569703	missense	possibly damaging	0.82
R2509:Hsp90ab1	UTSW	17	45569341	missense	probably damaging	1.00
R3686:Hsp90ab1	UTSW	17	45569288	missense	probably damaging	1.00
R3695:Hsp90ab1	UTSW	17	45571477	missense	probably damaging	0.98
R3700:Hsp90ab1	UTSW	17	45571514	missense	possibly damaging	0.69
R4968:Hsp90ab1	UTSW	17	45571036	missense	probably benign	0.05
R5809:Hsp90ab1	UTSW	17	45570649	unclassified	probably benign
R6833:Hsp90ab1	UTSW	17	45570467	missense	probably benign
R6834:Hsp90ab1	UTSW	17	45570467	missense	probably benign
R7392:Hsp90ab1	UTSW	17	45569048	missense	probably benign	0.10
R7400:Hsp90ab1	UTSW	17	45569284	missense	probably benign	0.04
R7584:Hsp90ab1	UTSW	17	45570271	missense	probably damaging	1.00
R7834:Hsp90ab1	UTSW	17	45571165	missense	possibly damaging	0.85
R7851:Hsp90ab1	UTSW	17	45570452	missense	probably benign	0.17
R7977:Hsp90ab1	UTSW	17	45571606	missense	probably damaging	1.00
R7987:Hsp90ab1	UTSW	17	45571606	missense	probably damaging	1.00
R8115:Hsp90ab1	UTSW	17	45569275	missense	possibly damaging	0.64
R8525:Hsp90ab1	UTSW	17	45569800	missense	probably benign	0.09
R9046:Hsp90ab1	UTSW	17	45569043	missense	probably damaging	1.00
R9378:Hsp90ab1	UTSW	17	45570754	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCCAGACTGAGAGGTGTGATAGC -3'
(R):5'- CAAATTGTATGTCCGCCGTGTGTTC -3'

Sequencing Primer
(F):5'- CTGAGAGGTGTGATAGCGAAGG -3'
(R):5'- GACGAGCTGATACCTGAGTACC -3'

Posted On

2013-10-16