Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Hspa4'

211252

Institutional Source

Beutler Lab

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, APG-2, Hsp70RY, Hsp110

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R1876 (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 53174983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 158 (D158A)

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
AA Change: D158A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: D158A

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

0.3481

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

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
Aasdh	C	A	5: 77,025,396 (GRCm39)	C961F	probably damaging	Het
Abca16	A	C	7: 120,032,608 (GRCm39)	D209A	probably damaging	Het
Adamts14	T	C	10: 61,036,151 (GRCm39)	I1047V	probably benign	Het
Ak1	A	G	2: 32,520,282 (GRCm39)	K27E	probably damaging	Het
Akap9	T	A	5: 4,011,809 (GRCm39)	D837E	probably benign	Het
Arfgef3	T	C	10: 18,473,104 (GRCm39)	Y1653C	probably damaging	Het
Atad2	T	G	15: 57,970,264 (GRCm39)	I446L	probably benign	Het
Atp8b3	T	G	10: 80,365,912 (GRCm39)	T313P	possibly damaging	Het
Btg4	T	C	9: 51,028,489 (GRCm39)	L72S	probably damaging	Het
Canx	A	G	11: 50,195,186 (GRCm39)	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663 (GRCm39)	E250K	probably benign	Het
Chchd10	T	A	10: 75,772,166 (GRCm39)	S46T	probably benign	Het
Col12a1	G	T	9: 79,585,563 (GRCm39)	Y1271*	probably null	Het
Col3a1	G	A	1: 45,381,395 (GRCm39)		probably null	Het
Ctc1	A	T	11: 68,922,390 (GRCm39)	T872S	probably benign	Het
Cx3cl1	T	C	8: 95,507,048 (GRCm39)	F351S	probably damaging	Het
Cyb5r4	T	A	9: 86,937,867 (GRCm39)	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,105,656 (GRCm39)	T285A	probably benign	Het
Dip2a	G	A	10: 76,153,925 (GRCm39)	T135M	probably damaging	Het
Eif1ad18	T	G	12: 88,050,810 (GRCm39)	I115S	probably damaging	Het
Fgf10	A	G	13: 118,925,695 (GRCm39)	E158G	probably damaging	Het
Ftcd	G	T	10: 76,417,403 (GRCm39)	A281S	probably benign	Het
Gpat4	A	T	8: 23,669,486 (GRCm39)	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,376,673 (GRCm39)	L541P	probably damaging	Het
Grk5	T	C	19: 61,071,663 (GRCm39)	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,153,627 (GRCm39)		probably null	Het
Hsd17b13	T	A	5: 104,116,633 (GRCm39)	N127I	probably damaging	Het
Ice2	G	A	9: 69,322,857 (GRCm39)	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,298,169 (GRCm39)	I144K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc49	T	C	9: 60,495,060 (GRCm39)	I652V	possibly damaging	Het
Man1a	A	T	10: 53,795,268 (GRCm39)	W571R	probably damaging	Het
Mecom	A	G	3: 30,047,807 (GRCm39)	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,691,224 (GRCm39)	I162T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,716 (GRCm39)	W265R	probably damaging	Het
Mup21	C	T	4: 62,067,663 (GRCm39)	V79I	probably benign	Het
Myh11	G	A	16: 14,086,967 (GRCm39)		probably benign	Het
Myom3	T	A	4: 135,506,711 (GRCm39)	F495I	probably benign	Het
Ncoa7	A	T	10: 30,574,122 (GRCm39)		probably benign	Het
Nisch	T	C	14: 30,895,594 (GRCm39)	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,766,435 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,775 (GRCm39)	I215F	possibly damaging	Het
Or4k1	A	G	14: 50,377,629 (GRCm39)	S156P	probably damaging	Het
Pdcl	A	C	2: 37,245,708 (GRCm39)	H98Q	probably damaging	Het
Pink1	A	G	4: 138,043,013 (GRCm39)	V427A	probably damaging	Het
Plce1	T	C	19: 38,769,067 (GRCm39)	S2242P	probably damaging	Het
Plrg1	C	A	3: 82,976,375 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,702,803 (GRCm39)	F586S	possibly damaging	Het
Pnpla7	G	A	2: 24,930,985 (GRCm39)	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,001,631 (GRCm39)	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,521,971 (GRCm39)		probably benign	Het
Pros1	A	T	16: 62,723,881 (GRCm39)	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,395,841 (GRCm39)	S839P	probably benign	Het
Ptpre	T	C	7: 135,280,046 (GRCm39)	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,645,259 (GRCm39)	A142T	probably damaging	Het
Safb2	T	C	17: 56,883,909 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,801 (GRCm39)	E384G	probably benign	Het
Sec23ip	A	G	7: 128,354,575 (GRCm39)	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,793,637 (GRCm39)	T42M	probably damaging	Het
Slc6a4	A	T	11: 76,905,990 (GRCm39)	T264S	probably benign	Het
Srgap3	A	G	6: 112,752,527 (GRCm39)	M319T	probably damaging	Het
Strn4	T	A	7: 16,572,207 (GRCm39)	I640N	probably damaging	Het
Tacc2	A	G	7: 130,225,475 (GRCm39)	D739G	probably benign	Het
Tigd4	T	A	3: 84,501,242 (GRCm39)	L53*	probably null	Het
Tlr6	T	A	5: 65,112,763 (GRCm39)	D48V	probably damaging	Het
Tmem125	T	C	4: 118,399,101 (GRCm39)	D110G	probably damaging	Het
Tmem198	A	G	1: 75,461,567 (GRCm39)	D341G	probably damaging	Het
Tnfaip3	A	G	10: 18,880,682 (GRCm39)	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,410,486 (GRCm39)	I2378N	possibly damaging	Het
Usp47	A	G	7: 111,654,127 (GRCm39)	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,506,900 (GRCm39)	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,595,505 (GRCm39)	V393D	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
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
R5032:Hspa4	UTSW	11	53,179,950 (GRCm39)	missense	possibly damaging	0.89
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'- AGAAGTCATCTGCAGCTGTCTC -3'
(R):5'- CCTCTAAAATTAGCCTGAGGAAAC -3'

Sequencing Primer
(F):5'- TAATGGATCCCTGGCGTCCTG -3'
(R):5'- CCTGGAATTCACTTTGTAGACCAGG -3'

Posted On

2014-06-30