Mutagenetix > Incidental Mutation

Incidental Mutation 'R5032:Hspa4'

391770

Institutional Source

Beutler Lab

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, APG-2, Hsp70RY, Hsp110

MMRRC Submission

042623-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R5032 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53150641-53191284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53179950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 69 (R69S)

Ref Sequence

ENSEMBL: ENSMUSP00000020630 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020630
AA Change: R69S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: R69S

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: ENSMUST00000151854

Meta Mutation Damage Score

0.9280

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Actl9	A	G	17: 33,653,062 (GRCm39)	N374S	probably benign	Het
Adam34l	T	C	8: 44,079,508 (GRCm39)	N239D	probably damaging	Het
Ahcyl2	T	A	6: 29,768,555 (GRCm39)		probably benign	Het
Arfgef2	T	C	2: 166,720,464 (GRCm39)	M1501T	probably benign	Het
Asb17	A	T	3: 153,550,175 (GRCm39)	D69V	probably damaging	Het
Atp13a5	T	C	16: 29,082,202 (GRCm39)	Y877C	probably damaging	Het
Atrip	T	C	9: 108,894,271 (GRCm39)	Q64R	probably benign	Het
Auts2	A	G	5: 131,505,730 (GRCm39)		probably benign	Het
Cacna2d1	G	T	5: 16,564,068 (GRCm39)	R893L	probably damaging	Het
Ccdc138	C	T	10: 58,409,458 (GRCm39)	R596C	probably damaging	Het
Cd163	A	G	6: 124,288,628 (GRCm39)	Y353C	probably damaging	Het
Cdon	T	C	9: 35,400,330 (GRCm39)	Y1015H	probably damaging	Het
Chsy3	T	C	18: 59,312,543 (GRCm39)	Y339H	probably damaging	Het
Cspp1	T	C	1: 10,136,744 (GRCm39)	W190R	probably benign	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Duox1	G	A	2: 122,167,798 (GRCm39)	R1027H	probably benign	Het
Dync1h1	C	T	12: 110,593,326 (GRCm39)	Q1198*	probably null	Het
Ecel1	G	A	1: 87,081,975 (GRCm39)	S246L	probably damaging	Het
Fam228b	T	G	12: 4,813,042 (GRCm39)	R109S	probably damaging	Het
Fut9	T	A	4: 25,799,245 (GRCm39)		probably benign	Het
Gm5592	A	G	7: 40,939,159 (GRCm39)	R814G	probably damaging	Het
Gmps	A	G	3: 63,897,746 (GRCm39)	K233E	probably benign	Het
Gramd1c	A	G	16: 43,811,026 (GRCm39)	Y438H	probably damaging	Het
Gsdmc	A	T	15: 63,673,882 (GRCm39)	D134E	possibly damaging	Het
Gxylt2	A	G	6: 100,760,142 (GRCm39)	I226V	probably benign	Het
Hc	T	C	2: 34,903,544 (GRCm39)	I1037V	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Kifc3	A	G	8: 95,829,354 (GRCm39)	S508P	probably damaging	Het
Krt7	G	A	15: 101,310,428 (GRCm39)	R25H	probably benign	Het
Lhfpl6	T	A	3: 52,950,854 (GRCm39)	S43T	possibly damaging	Het
Lrrc7	T	A	3: 157,887,217 (GRCm39)	K394N	possibly damaging	Het
Lypd4	A	T	7: 24,566,240 (GRCm39)	L28Q	probably damaging	Het
Mdc1	A	G	17: 36,161,481 (GRCm39)	E798G	probably benign	Het
Mta1	T	A	12: 113,097,145 (GRCm39)		probably null	Het
Mtg2	A	T	2: 179,725,183 (GRCm39)	Q132L	possibly damaging	Het
Myh1	G	T	11: 67,096,874 (GRCm39)	E382*	probably null	Het
Myo3a	T	C	2: 22,287,413 (GRCm39)	L175P	probably damaging	Het
Nckap5	A	T	1: 125,904,786 (GRCm39)	F144L	possibly damaging	Het
Nfrkb	T	A	9: 31,300,351 (GRCm39)		probably null	Het
Nmt2	C	T	2: 3,285,429 (GRCm39)	P5L	probably benign	Het
Nsmf	T	C	2: 24,945,073 (GRCm39)		probably null	Het
Oprl1	C	T	2: 181,360,795 (GRCm39)	R257C	probably damaging	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or5a1	T	A	19: 12,097,420 (GRCm39)	I219F	probably benign	Het
Pcdhgc3	T	A	18: 37,940,638 (GRCm39)	N346K	probably damaging	Het
Pcnt	G	A	10: 76,190,911 (GRCm39)	P2791S	probably benign	Het
Pdia3	A	G	2: 121,244,620 (GRCm39)	N11S	probably benign	Het
Pik3c2g	A	T	6: 139,841,928 (GRCm39)	T778S	probably benign	Het
Pik3ip1	T	A	11: 3,283,520 (GRCm39)	I75N	probably damaging	Het
Pla2g4d	A	T	2: 120,112,176 (GRCm39)	Y118*	probably null	Het
Ppargc1b	A	G	18: 61,440,336 (GRCm39)	S845P	probably damaging	Het
Prdm2	A	T	4: 142,905,937 (GRCm39)	L50*	probably null	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,053,140 (GRCm39)	V926I	probably benign	Het
Rab11fip2	A	T	19: 59,925,799 (GRCm39)	N139K	probably damaging	Het
Rcn2	T	A	9: 55,960,300 (GRCm39)	M189K	probably damaging	Het
Rev1	A	T	1: 38,113,570 (GRCm39)		probably benign	Het
Rhbg	C	A	3: 88,152,441 (GRCm39)	G368C	probably damaging	Het
Rnf214	A	G	9: 45,811,042 (GRCm39)		probably null	Het
Sf3a3	T	C	4: 124,618,959 (GRCm39)	S307P	probably benign	Het
Slc6a18	T	A	13: 73,814,442 (GRCm39)	Y494F	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag16	T	G	1: 69,892,511 (GRCm39)	N97K	probably benign	Het
Tmem192	T	C	8: 65,412,163 (GRCm39)	V114A	possibly damaging	Het
Urb1	G	T	16: 90,553,059 (GRCm39)	P1901T	probably benign	Het
Vwa5b2	A	G	16: 20,419,459 (GRCm39)	T601A	probably damaging	Het
Wdtc1	G	T	4: 133,036,162 (GRCm39)	T126K	possibly damaging	Het
Xirp2	T	C	2: 67,356,014 (GRCm39)	Y3592H	possibly damaging	Het
Xylt2	A	T	11: 94,560,842 (GRCm39)	V232E	probably damaging	Het

Other mutations in Hspa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Hspa4	APN	11	53,171,544 (GRCm39)	splice site	probably null
IGL00701:Hspa4	APN	11	53,161,860 (GRCm39)	missense	possibly damaging	0.89
IGL00957:Hspa4	APN	11	53,171,514 (GRCm39)	missense	probably benign	0.00
IGL02324:Hspa4	APN	11	53,190,885 (GRCm39)	critical splice donor site	probably null
IGL02328:Hspa4	APN	11	53,190,885 (GRCm39)	critical splice donor site	probably null
IGL02336:Hspa4	APN	11	53,153,200 (GRCm39)	missense	probably benign	0.00
IGL02441:Hspa4	APN	11	53,161,809 (GRCm39)	missense	probably benign	0.03
IGL03323:Hspa4	APN	11	53,155,960 (GRCm39)	missense	probably benign	0.05
IGL03356:Hspa4	APN	11	53,160,627 (GRCm39)	missense	probably damaging	1.00
R0027:Hspa4	UTSW	11	53,174,412 (GRCm39)	missense	probably benign	0.00
R0398:Hspa4	UTSW	11	53,163,706 (GRCm39)	critical splice acceptor site	probably null
R0568:Hspa4	UTSW	11	53,153,703 (GRCm39)	splice site	probably benign
R0655:Hspa4	UTSW	11	53,160,519 (GRCm39)	missense	probably benign	0.02
R1876:Hspa4	UTSW	11	53,174,983 (GRCm39)	missense	probably benign	0.16
R2225:Hspa4	UTSW	11	53,177,760 (GRCm39)	missense	probably benign	0.28
R3813:Hspa4	UTSW	11	53,161,806 (GRCm39)	missense	probably benign	0.21
R3937:Hspa4	UTSW	11	53,161,776 (GRCm39)	missense	probably benign	0.13
R4360:Hspa4	UTSW	11	53,155,919 (GRCm39)	missense	probably damaging	1.00
R4457:Hspa4	UTSW	11	53,171,395 (GRCm39)	missense	probably damaging	1.00
R4492:Hspa4	UTSW	11	53,171,296 (GRCm39)	missense	probably damaging	1.00
R4751:Hspa4	UTSW	11	53,175,026 (GRCm39)	missense	probably benign	0.22
R5233:Hspa4	UTSW	11	53,177,802 (GRCm39)	missense	possibly damaging	0.46
R5320:Hspa4	UTSW	11	53,153,810 (GRCm39)	missense	probably damaging	1.00
R5650:Hspa4	UTSW	11	53,155,919 (GRCm39)	missense	probably damaging	1.00
R6108:Hspa4	UTSW	11	53,152,539 (GRCm39)	missense	probably damaging	0.97
R6211:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6232:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6234:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6235:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6243:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6245:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6468:Hspa4	UTSW	11	53,155,883 (GRCm39)	missense	probably benign	0.03
R7194:Hspa4	UTSW	11	53,156,765 (GRCm39)	missense	probably damaging	1.00
R7308:Hspa4	UTSW	11	53,157,930 (GRCm39)	missense	possibly damaging	0.70
R7654:Hspa4	UTSW	11	53,190,951 (GRCm39)	missense	probably damaging	0.98
R7731:Hspa4	UTSW	11	53,157,791 (GRCm39)	critical splice donor site	probably null
R7813:Hspa4	UTSW	11	53,162,863 (GRCm39)	missense	probably damaging	1.00
R7841:Hspa4	UTSW	11	53,157,887 (GRCm39)	missense	possibly damaging	0.95
R7849:Hspa4	UTSW	11	53,171,530 (GRCm39)	missense	possibly damaging	0.88
R7913:Hspa4	UTSW	11	53,153,134 (GRCm39)	missense	probably benign	0.01
R7980:Hspa4	UTSW	11	53,171,404 (GRCm39)	missense	probably benign	0.22
R8679:Hspa4	UTSW	11	53,160,691 (GRCm39)	missense	probably damaging	0.98
R9012:Hspa4	UTSW	11	53,159,402 (GRCm39)	missense	probably benign	0.14
R9129:Hspa4	UTSW	11	53,174,463 (GRCm39)	nonsense	probably null
R9230:Hspa4	UTSW	11	53,171,466 (GRCm39)	missense	probably benign	0.22
R9631:Hspa4	UTSW	11	53,160,582 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GTGTTCATTACAGCTTCACGAG -3'
(R):5'- GCGTAGTACTCGAGGTGTTC -3'

Sequencing Primer
(F):5'- GTTCATTACAGCTTCACGAGAACTAC -3'
(R):5'- ACATAGCCCTGGTTGGTCTAGAAC -3'

Posted On

2016-06-06