Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00701:Hspa4'

12669

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, APG-2, Hsp70RY, Hsp110

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL00701

Quality Score

Status

Chromosome

Chromosomal Location

53150641-53191284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53161860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 431 (V431I)

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: V431I

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: V431I

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

Coding Region Coverage

Validation Efficiency

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam1	T	A	7: 25,171,339 (GRCm39)	N375I	possibly damaging	Het
Gphn	C	A	12: 78,672,941 (GRCm39)	Q486K	possibly damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Pbrm1	A	G	14: 30,774,205 (GRCm39)	E457G	probably damaging	Het
Tcerg1	T	C	18: 42,669,407 (GRCm39)	S457P	probably benign	Het
Usp32	T	A	11: 84,949,951 (GRCm39)		probably null	Het
Vcan	G	T	13: 89,851,845 (GRCm39)	F1038L	probably benign	Het
Xrcc6	T	C	15: 81,901,401 (GRCm39)		probably null	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
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
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

Posted On

2012-12-06