Mutagenetix > Incidental Mutations

Incidental Mutation 'R6243:Hspa4'

505396

Institutional Source

Beutler Lab

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, Hsp70RY, Hsp110, APG-2

MMRRC Submission

044365-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53259814-53300457 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53262939 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 702 (E702K)

Ref Sequence

ENSEMBL: ENSMUSP00000020630 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020630
AA Change: E702K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: E702K

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

0.5176

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,314,301	S331P	probably damaging	Het
Akap9	T	G	5: 4,065,000		probably null	Het
Ankef1	A	G	2: 136,537,157	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,099,073	E788G	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,116,504	I220K	probably damaging	Het
Atg16l2	A	C	7: 101,292,329	*404E	probably null	Het
Atp4a	T	C	7: 30,715,957	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 105,565,863	E17G	probably benign	Het
Bcat2	T	C	7: 45,588,267	V279A	probably benign	Het
Birc6	T	G	17: 74,609,387	M459R	probably damaging	Het
Bsn	T	C	9: 108,107,561	Y3098C	unknown	Het
Btaf1	T	A	19: 36,981,120	M679K	probably benign	Het
Col6a4	T	C	9: 106,013,390	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,173,914	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,288,944	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,900,529	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 26,061,619	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,781,133	V233E	probably benign	Het
Dnhd1	A	T	7: 105,652,009	H191L	probably damaging	Het
Dsg3	T	A	18: 20,539,724	D817E	probably damaging	Het
Dytn	T	C	1: 63,647,521	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,185,727	E123*	probably null	Het
Fchsd2	T	C	7: 101,271,809		probably benign	Het
Fmo9	T	C	1: 166,667,369	E270G	probably benign	Het
Folr1	T	A	7: 101,863,965	H41L	probably damaging	Het
Gm29776	T	A	14: 54,695,759	R322S	probably damaging	Het
Gm7298	A	G	6: 121,779,137	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,640,137		probably benign	Het
Igf2bp3	A	T	6: 49,107,428	N285K	possibly damaging	Het
Lca5l	G	A	16: 96,178,912	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,462,240	H354R	probably benign	Het
Msh6	T	A	17: 87,983,571	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,443,900	T243I	probably benign	Het
Myo1h	T	A	5: 114,362,147	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,949,064	K300E	probably benign	Het
Nuak2	T	C	1: 132,332,367	S628P	probably benign	Het
Nup214	G	T	2: 32,002,932	A721S	possibly damaging	Het
Olfr1148	A	G	2: 87,833,041	M1V	probably null	Het
Olfr74	A	G	2: 87,974,587	V26A	probably benign	Het
Pclo	T	C	5: 14,676,443		probably benign	Het
Phf20	A	G	2: 156,223,400	S12G	probably benign	Het
Pik3r5	T	C	11: 68,492,000	Y289H	probably damaging	Het
Pld1	T	C	3: 28,095,805	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,955,473	Y182H	probably damaging	Het
Ppid	A	G	3: 79,603,066	I354V	probably benign	Het
Prss2	T	C	6: 41,524,453	V152A	probably benign	Het
Rab28	C	T	5: 41,635,880	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,645,307		probably null	Het
Rabl6	T	G	2: 25,585,403	S553R	probably damaging	Het
Rars	A	G	11: 35,826,547	F170S	possibly damaging	Het
Ror2	T	A	13: 53,113,080	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsph4a	A	T	10: 33,909,143	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,523,139	F204L	probably damaging	Het
Sertad4	T	C	1: 192,850,949		probably null	Het
Shisa3	C	T	5: 67,611,143	P129S	probably benign	Het
Slc13a2	G	A	11: 78,404,708	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Stab2	T	A	10: 86,907,161	R1195W	probably damaging	Het
Syna	C	A	5: 134,560,114		probably benign	Het
Thada	A	T	17: 84,436,602	D759E	probably benign	Het
Thoc5	A	G	11: 4,919,753	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,602	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,162,862	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,303,101	N43S	possibly damaging	Het
Trim66	T	C	7: 109,460,274	K921R	probably benign	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,462,959	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,799,345	T514A	probably benign	Het
Wrn	A	T	8: 33,284,654	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,193,172	Y550F	probably benign	Het
Zfp995	G	A	17: 21,880,288	P322S	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
R0568:Hspa4	UTSW	11	53262876	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGATGAGCAACTCCCTAC -3'
(R):5'- TGTGCGCATACACATACCCAG -3'

Sequencing Primer
(F):5'- GGACTTCTGTGAGTTCAAAGACACC -3'
(R):5'- GCATACACATACCCAGAGAGTG -3'

Posted On

2018-02-28