Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00433:Hspa2'

4396

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa2

Ensembl Gene

ENSMUSG00000059970

Gene Name

heat shock protein 2

Synonyms

70kDa, Hsp70-2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00433

Quality Score

Status

Chromosome

Chromosomal Location

76450950-76453712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76453123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 606 (C606R)

Ref Sequence

ENSEMBL: ENSMUSP00000151408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080449] [ENSMUST00000219555]

AlphaFold

P17156

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080449
AA Change: C606R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: C606R

Domain	Start	End	E-Value	Type
Pfam:HSP70	7	615	5.8e-269	PFAM
Pfam:MreB_Mbl	117	383	8.5e-18	PFAM
low complexity region	616	627	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217797

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219555
AA Change: C606R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit male sterility associated with lack of postmeiotic germ cells and markedly increased frequency of spermatocyte apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,292,522 (GRCm39)	A196V	probably benign	Het
BC024139	A	G	15: 76,009,300 (GRCm39)	V238A	probably benign	Het
Bfar	G	A	16: 13,516,827 (GRCm39)	D350N	probably benign	Het
C4b	A	T	17: 34,961,015 (GRCm39)	F217Y	possibly damaging	Het
Camk1g	T	C	1: 193,029,657 (GRCm39)		probably benign	Het
Camkmt	A	G	17: 85,404,094 (GRCm39)		probably benign	Het
Cass4	T	C	2: 172,258,170 (GRCm39)	L56P	probably damaging	Het
Ccs	A	G	19: 4,875,636 (GRCm39)	I243T	possibly damaging	Het
Cds2	T	C	2: 132,139,213 (GRCm39)	V152A	probably damaging	Het
Chd1l	T	C	3: 97,497,921 (GRCm39)	N307D	probably damaging	Het
Cmtm2b	T	C	8: 105,057,078 (GRCm39)	I146T	possibly damaging	Het
Cntnap3	T	C	13: 64,920,545 (GRCm39)	Y608C	probably damaging	Het
Cog5	A	G	12: 31,735,703 (GRCm39)	R157G	probably damaging	Het
Csmd1	A	C	8: 16,281,387 (GRCm39)	F713V	probably damaging	Het
Csrp3	T	C	7: 48,480,440 (GRCm39)	N175D	probably benign	Het
Exoc4	A	G	6: 33,273,723 (GRCm39)	D176G	probably damaging	Het
Fbxo10	T	C	4: 45,058,684 (GRCm39)	D351G	probably damaging	Het
Gm12185	A	T	11: 48,798,049 (GRCm39)	S815T	probably benign	Het
Gpld1	A	G	13: 25,170,905 (GRCm39)		probably benign	Het
Leo1	C	T	9: 75,357,762 (GRCm39)		probably benign	Het
Mta3	C	T	17: 84,015,861 (GRCm39)	P21L	probably damaging	Het
Pkn1	T	C	8: 84,407,635 (GRCm39)	E471G	probably damaging	Het
Postn	C	T	3: 54,281,149 (GRCm39)	R425C	probably damaging	Het
Reln	A	G	5: 22,250,007 (GRCm39)	L676P	probably damaging	Het
Sin3a	G	A	9: 57,005,185 (GRCm39)	V362M	probably damaging	Het
Slc6a7	C	T	18: 61,134,363 (GRCm39)		probably null	Het
Smc6	A	T	12: 11,349,264 (GRCm39)	D749V	possibly damaging	Het
Smg5	C	T	3: 88,258,735 (GRCm39)	Q569*	probably null	Het
Sspo	G	A	6: 48,466,970 (GRCm39)	C4130Y	probably damaging	Het
Tlcd3a	T	C	11: 76,098,817 (GRCm39)	F164L	probably damaging	Het
Tnn	A	T	1: 159,925,776 (GRCm39)		probably benign	Het
Tomt	C	T	7: 101,551,393 (GRCm39)	R29H	probably benign	Het
Uggt2	A	T	14: 119,250,899 (GRCm39)	D1199E	probably benign	Het
Usp33	A	G	3: 152,079,046 (GRCm39)	K433E	probably benign	Het
Vmn2r89	A	G	14: 51,692,422 (GRCm39)	Y75C	probably damaging	Het
Wnt7a	C	T	6: 91,342,973 (GRCm39)	G303D	probably damaging	Het

Other mutations in Hspa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02946:Hspa2	APN	12	76,451,947 (GRCm39)	missense	probably damaging	0.99
R0504:Hspa2	UTSW	12	76,451,990 (GRCm39)	missense	probably damaging	1.00
R1191:Hspa2	UTSW	12	76,452,655 (GRCm39)	missense	probably damaging	1.00
R1204:Hspa2	UTSW	12	76,451,641 (GRCm39)	missense	probably benign
R1880:Hspa2	UTSW	12	76,452,694 (GRCm39)	missense	possibly damaging	0.72
R2234:Hspa2	UTSW	12	76,451,419 (GRCm39)	missense	possibly damaging	0.56
R2265:Hspa2	UTSW	12	76,452,962 (GRCm39)	missense	probably benign	0.05
R4036:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4037:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4038:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4039:Hspa2	UTSW	12	76,452,542 (GRCm39)	missense	probably damaging	1.00
R4120:Hspa2	UTSW	12	76,452,008 (GRCm39)	missense	probably damaging	1.00
R4673:Hspa2	UTSW	12	76,452,514 (GRCm39)	missense	possibly damaging	0.89
R4720:Hspa2	UTSW	12	76,451,639 (GRCm39)	missense	possibly damaging	0.77
R4948:Hspa2	UTSW	12	76,452,761 (GRCm39)	missense	probably damaging	1.00
R5492:Hspa2	UTSW	12	76,451,308 (GRCm39)	start codon destroyed	probably null	0.00
R6043:Hspa2	UTSW	12	76,453,096 (GRCm39)	missense	probably damaging	1.00
R7422:Hspa2	UTSW	12	76,452,884 (GRCm39)	missense	probably damaging	0.98
R7698:Hspa2	UTSW	12	76,452,083 (GRCm39)	missense	possibly damaging	0.90
R9292:Hspa2	UTSW	12	76,452,047 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20