Mutagenetix > Incidental Mutations

Incidental Mutation 'R0568:Hspa4'

46271

Institutional Source

Beutler Lab

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, Hsp70RY, Hsp110, APG-2

MMRRC Submission

038759-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.889) question?

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53259814-53300457 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 53262876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020630]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020630

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	608	2.9e-211	PFAM
Pfam:HSP70	590	693	3.8e-10	PFAM
low complexity region	787	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151854

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit age-dependent neurofibrillary tangles and tau deposits, impaired contextual conditioning, and impaired bar grasping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,983,038	T181I	possibly damaging	Het
1810043G02Rik	A	T	10: 77,984,547	*250C	probably null	Het
Acnat1	G	A	4: 49,451,003	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,291,713		probably benign	Het
Adamtsl1	T	C	4: 86,418,552	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,464,629		probably null	Het
Bag2	T	C	1: 33,746,978	M88V	probably benign	Het
Brms1l	A	G	12: 55,861,388		probably null	Het
C8b	A	G	4: 104,793,380	I462V	probably benign	Het
Cnpy4	A	G	5: 138,192,577	E167G	probably damaging	Het
Copa	T	C	1: 172,112,137	V624A	possibly damaging	Het
Gm4553	G	T	7: 142,165,620	P24T	unknown	Het
Gna12	A	G	5: 140,760,883	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,211,242	E302*	probably null	Het
Hmcn2	C	A	2: 31,415,236	S3140R	probably benign	Het
Hspbp1	A	T	7: 4,684,432	L60*	probably null	Het
Lats1	A	T	10: 7,712,528	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,582,042		probably benign	Het
Lrrc3	T	A	10: 77,901,585	R6W	probably damaging	Het
Lxn	C	T	3: 67,461,002	A143T	probably damaging	Het
Mga	T	C	2: 119,935,422	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,423,215	I286N	probably damaging	Het
Olfr1212	T	A	2: 88,959,043	Y192*	probably null	Het
Papd4	A	G	13: 93,154,992	S381P	probably benign	Het
Pitpnm2	A	G	5: 124,140,517		probably benign	Het
Plxna2	T	C	1: 194,751,386	V581A	probably benign	Het
Polr3d	A	T	14: 70,439,519	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,489,765	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syngr3	C	T	17: 24,686,581	A140T	probably benign	Het
Tprn	T	C	2: 25,264,321	V545A	probably damaging	Het
Trim66	T	C	7: 109,460,695	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,137,365		probably benign	Het
Vps9d1	A	G	8: 123,246,748	V432A	probably damaging	Het
Zswim9	A	T	7: 13,261,026	D401E	probably damaging	Het

Other mutations in Hspa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Hspa4	APN	11	53280717	splice site	probably null
IGL00701:Hspa4	APN	11	53271033	missense	possibly damaging	0.89
IGL00957:Hspa4	APN	11	53280687	missense	probably benign	0.00
IGL02324:Hspa4	APN	11	53300058	critical splice donor site	probably null
IGL02328:Hspa4	APN	11	53300058	critical splice donor site	probably null
IGL02336:Hspa4	APN	11	53262373	missense	probably benign	0.00
IGL02441:Hspa4	APN	11	53270982	missense	probably benign	0.03
IGL03323:Hspa4	APN	11	53265133	missense	probably benign	0.05
IGL03356:Hspa4	APN	11	53269800	missense	probably damaging	1.00
R0027:Hspa4	UTSW	11	53283585	missense	probably benign	0.00
R0398:Hspa4	UTSW	11	53272879	critical splice acceptor site	probably null
R0655:Hspa4	UTSW	11	53269692	missense	probably benign	0.02
R1876:Hspa4	UTSW	11	53284156	missense	probably benign	0.16
R2225:Hspa4	UTSW	11	53286933	missense	probably benign	0.28
R3813:Hspa4	UTSW	11	53270979	missense	probably benign	0.21
R3937:Hspa4	UTSW	11	53270949	missense	probably benign	0.13
R4360:Hspa4	UTSW	11	53265092	missense	probably damaging	1.00
R4457:Hspa4	UTSW	11	53280568	missense	probably damaging	1.00
R4492:Hspa4	UTSW	11	53280469	missense	probably damaging	1.00
R4751:Hspa4	UTSW	11	53284199	missense	probably benign	0.22
R5032:Hspa4	UTSW	11	53289123	missense	possibly damaging	0.89
R5233:Hspa4	UTSW	11	53286975	missense	possibly damaging	0.46
R5320:Hspa4	UTSW	11	53262983	missense	probably damaging	1.00
R5650:Hspa4	UTSW	11	53265092	missense	probably damaging	1.00
R6108:Hspa4	UTSW	11	53261712	missense	probably damaging	0.97
R6211:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6232:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6234:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6235:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6243:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6245:Hspa4	UTSW	11	53262939	missense	probably benign	0.06
R6468:Hspa4	UTSW	11	53265056	missense	probably benign	0.03
R7194:Hspa4	UTSW	11	53265938	missense	probably damaging	1.00
R7308:Hspa4	UTSW	11	53267103	missense	possibly damaging	0.70
R7654:Hspa4	UTSW	11	53300124	missense	probably damaging	0.98
R7731:Hspa4	UTSW	11	53266964	critical splice donor site	probably null
R7813:Hspa4	UTSW	11	53272036	missense	probably damaging	1.00
R7841:Hspa4	UTSW	11	53267060	missense	possibly damaging	0.95
R7849:Hspa4	UTSW	11	53280703	missense	possibly damaging	0.88
R7913:Hspa4	UTSW	11	53262307	missense	probably benign	0.01
R7980:Hspa4	UTSW	11	53280577	missense	probably benign	0.22
R8679:Hspa4	UTSW	11	53269864	missense	probably damaging	0.98
R9012:Hspa4	UTSW	11	53268575	missense	probably benign	0.14
R9129:Hspa4	UTSW	11	53283636	nonsense	probably null
R9230:Hspa4	UTSW	11	53280639	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TGGAAGATGAGCAACTCCCTACCC -3'
(R):5'- GCGCATACACATACCCAGAGAGTG -3'

Sequencing Primer
(F):5'- aaaaccaactgtaacttcagcc -3'
(R):5'- GAGAGTGACAAATTAACCCCATTAC -3'

Posted On

2013-06-11