Mutagenetix > Incidental Mutation

Incidental Mutation 'R8329:Hspa8'

644263

Institutional Source

Beutler Lab

Gene Symbol

Hspa8

Ensembl Gene

ENSMUSG00000015656

Gene Name

heat shock protein 8

Synonyms

Hsp73, Hsc71, Hsc70, 2410008N15Rik, Hsc73

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40800984-40810087 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40802601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 130 (I130S)

Ref Sequence

ENSEMBL: ENSMUSP00000015800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015800] [ENSMUST00000117557] [ENSMUST00000133964]

AlphaFold

P63017

PDB Structure

Chaperone Complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015800
AA Change: I130S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015800
Gene: ENSMUSG00000015656
AA Change: I130S

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	612	2.3e-272	PFAM
Pfam:MreB_Mbl	117	383	5.3e-19	PFAM
low complexity region	613	640	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117557
AA Change: I130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113722
Gene: ENSMUSG00000015656
AA Change: I130S

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	593	3e-255	PFAM
low complexity region	594	621	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133964

SMART Domains

Protein: ENSMUSP00000117285
Gene: ENSMUSG00000015656

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	116	2.5e-50	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

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 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,543,741		probably null	Het
Ackr4	A	G	9: 104,099,461	F96L	possibly damaging	Het
Aco1	T	C	4: 40,186,376	I596T	possibly damaging	Het
Aff3	G	A	1: 38,205,054	R879W	probably benign	Het
Apob	A	G	12: 8,011,135	R3206G	probably damaging	Het
Atg7	T	A	6: 114,686,096	D224E	possibly damaging	Het
Capn12	T	C	7: 28,883,201	F167S	probably damaging	Het
Ccdc3	T	G	2: 5,229,037	V224G	probably damaging	Het
Ces4a	G	A	8: 105,148,082	V452I	probably damaging	Het
Cherp	G	A	8: 72,462,008	R834C		Het
Clptm1l	T	A	13: 73,612,428	I310N	probably damaging	Het
Cog3	A	T	14: 75,740,563	D230E	probably damaging	Het
Crb1	T	A	1: 139,237,267	I1101F	probably damaging	Het
Cts6	A	T	13: 61,195,468	M313K	probably damaging	Het
Cyp2c66	T	A	19: 39,186,462	C435*	probably null	Het
Defb13	A	G	8: 21,948,546	E40G	probably benign	Het
Dis3l	T	C	9: 64,311,830	D606G	possibly damaging	Het
Dopey2	T	C	16: 93,771,787	L1579P	probably damaging	Het
Foxa3	A	G	7: 19,014,184	V339A	probably benign	Het
Gcn1l1	G	A	5: 115,609,862	G1776E	probably damaging	Het
Gls2	A	G	10: 128,201,285	T232A	probably benign	Het
Gm853	C	T	4: 130,215,363	V295M	possibly damaging	Het
Gprc6a	A	T	10: 51,627,259	Y169*	probably null	Het
Guca2b	T	C	4: 119,658,804	S18G	unknown	Het
Hars2	A	G	18: 36,789,235	D301G	possibly damaging	Het
Haus5	T	A	7: 30,659,559	Q226L	possibly damaging	Het
Hc	G	A	2: 35,012,898		probably null	Het
Hivep2	T	C	10: 14,128,267	V203A	probably damaging	Het
Hoxc8	A	G	15: 102,991,111	Y111C	probably damaging	Het
Hoxd13	G	T	2: 74,668,317	R3L	probably benign	Het
Ier5l	C	A	2: 30,472,849	C388F	possibly damaging	Het
Lmx1a	A	G	1: 167,689,803	N10S	probably benign	Het
Map2	T	C	1: 66,415,113	I1054T	probably benign	Het
Me1	C	T	9: 86,619,737	D268N	probably damaging	Het
Muc6	G	A	7: 141,640,258	P1501S	unknown	Het
Myo1d	T	C	11: 80,638,074	M641V	probably benign	Het
Nuggc	G	A	14: 65,641,282	R667K	probably benign	Het
Olfr62	A	C	4: 118,666,407	N297H	probably damaging	Het
Olfr742	T	C	14: 50,515,558	F118S	probably damaging	Het
Oprl1	T	A	2: 181,718,924	C231S	probably damaging	Het
Pard3b	C	A	1: 62,637,798	Q1163K	probably benign	Het
Pik3c2a	T	C	7: 116,418,048	Y158C	probably damaging	Het
Prune2	T	G	19: 17,121,265	S1378A	probably benign	Het
Ralgps2	G	T	1: 156,884,540	T158K	probably damaging	Het
Rbm42	T	A	7: 30,645,157	E227V	unknown	Het
Ripor3	T	C	2: 167,983,199	R797G	possibly damaging	Het
Ryr3	T	A	2: 112,662,510	H3764L	possibly damaging	Het
Sbno2	T	C	10: 80,064,387	Y541C	probably damaging	Het
Scn5a	A	G	9: 119,535,964	V396A	probably damaging	Het
Slc36a3	A	G	11: 55,148,583	L73P	probably damaging	Het
Spag16	T	C	1: 69,895,248	I278T	probably benign	Het
Stx18	T	A	5: 38,128,106	L274*	probably null	Het
Terb1	A	T	8: 104,484,371	N341K	probably damaging	Het
Timm29	A	G	9: 21,593,705	Y223C	probably damaging	Het
Tmprss2	T	A	16: 97,568,465	M370L	probably benign	Het
Tmtc3	T	A	10: 100,447,434	N753I	probably damaging	Het
Tnpo3	A	T	6: 29,558,833	C699*	probably null	Het
Trav5d-4	G	A	14: 53,001,751	W13*	probably null	Het
Trdn	A	G	10: 33,444,078		probably null	Het
Tsg101	A	T	7: 46,909,060	Y68N	probably damaging	Het
Ttn	A	G	2: 76,833,718	V11649A	unknown	Het
Wnk2	A	T	13: 49,095,438	V379D	probably damaging	Het
Xpnpep1	A	G	19: 53,002,472		probably null	Het
Yme1l1	C	T	2: 23,164,585	Q139*	probably null	Het

Other mutations in Hspa8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03388:Hspa8	APN	9	40804928	unclassified	probably benign
R0006:Hspa8	UTSW	9	40804629	missense	probably benign	0.05
R0799:Hspa8	UTSW	9	40803841	missense	probably damaging	1.00
R0866:Hspa8	UTSW	9	40802624	critical splice donor site	probably null
R3621:Hspa8	UTSW	9	40801923	start codon destroyed	probably damaging	0.96
R4475:Hspa8	UTSW	9	40804146	unclassified	probably benign
R5096:Hspa8	UTSW	9	40802901	unclassified	probably benign
R6116:Hspa8	UTSW	9	40804975	missense	probably damaging	0.98
R6363:Hspa8	UTSW	9	40803065	missense	probably damaging	1.00
R7067:Hspa8	UTSW	9	40804625	missense	probably damaging	0.97
R7310:Hspa8	UTSW	9	40803408	missense	probably benign	0.09
R7549:Hspa8	UTSW	9	40802959	splice site	probably null
R7998:Hspa8	UTSW	9	40804514	missense	probably damaging	1.00
R8268:Hspa8	UTSW	9	40803152	missense	probably damaging	0.99
R8548:Hspa8	UTSW	9	40802471	missense	probably benign	0.10
Z1177:Hspa8	UTSW	9	40802802	missense	probably damaging	0.98
Z1177:Hspa8	UTSW	9	40802805	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACGTCTGATCGGGCGTAG -3'
(R):5'- TGAGGCCAGCAATAGTTCCAG -3'

Sequencing Primer
(F):5'- CGGGCGTAGGTTTGATGATGC -3'
(R):5'- GGCAAATTCCCGATCAGA -3'

Posted On

2020-09-02