Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02946:Hspa2'

364753

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 #

IGL02946

Quality Score

Status

Chromosome

Chromosomal Location

76450950-76453712 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76451947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 214 (T214A)

Ref Sequence

ENSEMBL: ENSMUSP00000151408 (fasta)

Gene Model

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

AlphaFold

P17156

Predicted Effect

probably damaging
Transcript: ENSMUST00000080449
AA Change: T214A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079306
Gene: ENSMUSG00000059970
AA Change: T214A

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

probably damaging
Transcript: ENSMUST00000219555
AA Change: T214A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,919,041 (GRCm39)		probably benign	Het
Actr3b	T	C	5: 26,053,481 (GRCm39)	I270T	possibly damaging	Het
Adgrf2	T	C	17: 43,021,384 (GRCm39)	Y480C	probably damaging	Het
Arhgap27	T	C	11: 103,229,174 (GRCm39)	T514A	probably damaging	Het
BC031181	C	T	18: 75,141,736 (GRCm39)		probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ccm2	G	A	11: 6,546,195 (GRCm39)	R335H	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Crabp1	T	C	9: 54,672,232 (GRCm39)	F16S	possibly damaging	Het
Crmp1	C	T	5: 37,441,424 (GRCm39)	A502V	probably damaging	Het
Ehhadh	A	T	16: 21,581,672 (GRCm39)	V440D	probably damaging	Het
Galnt3	T	A	2: 65,925,562 (GRCm39)	I392L	probably damaging	Het
Gm12689	T	A	4: 99,184,490 (GRCm39)	N114K	unknown	Het
Itga7	T	C	10: 128,769,952 (GRCm39)	I32T	probably benign	Het
Itgal	A	G	7: 126,913,540 (GRCm39)	S682G	probably damaging	Het
Kctd1	C	T	18: 15,107,036 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,202,571 (GRCm39)	D439V	probably damaging	Het
Mdn1	A	G	4: 32,734,366 (GRCm39)	K3258E	probably damaging	Het
Mgat4c	T	C	10: 102,225,114 (GRCm39)	S443P	probably benign	Het
Mylk	G	A	16: 34,742,158 (GRCm39)	G890E	probably benign	Het
Mylk2	T	A	2: 152,761,130 (GRCm39)	L446*	probably null	Het
Niban1	A	T	1: 151,525,176 (GRCm39)	I194F	probably damaging	Het
Or2t26	T	G	11: 49,039,719 (GRCm39)	F212V	probably damaging	Het
Pi4k2b	T	C	5: 52,910,549 (GRCm39)	F278L	probably damaging	Het
Pitpnm3	A	G	11: 71,983,378 (GRCm39)	S84P	probably benign	Het
Plxna2	T	C	1: 194,431,617 (GRCm39)		probably benign	Het
Prr5l	C	A	2: 101,602,529 (GRCm39)		probably null	Het
Ptprs	T	C	17: 56,731,032 (GRCm39)	T719A	probably benign	Het
Rasa3	T	C	8: 13,648,280 (GRCm39)	H128R	probably benign	Het
Rhox13	A	G	X: 37,218,652 (GRCm39)	K205E	probably damaging	Het
Rif1	C	A	2: 52,000,137 (GRCm39)	S1197*	probably null	Het
Sgta	A	G	10: 80,885,612 (GRCm39)		probably benign	Het
Slc25a5	T	A	X: 36,061,506 (GRCm39)	M239K	probably damaging	Het
Stil	T	A	4: 114,887,110 (GRCm39)	H734Q	probably benign	Het
Stk32b	T	C	5: 37,688,883 (GRCm39)		probably benign	Het
Ubr4	T	G	4: 139,152,606 (GRCm39)	F1999C	probably damaging	Het
Wfdc2	A	C	2: 164,406,009 (GRCm39)	T86P	probably benign	Het
Zfp407	T	C	18: 84,578,834 (GRCm39)	S760G	probably damaging	Het
Zfp668	A	T	7: 127,465,690 (GRCm39)	L498Q	possibly damaging	Het

Other mutations in Hspa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Hspa2	APN	12	76,453,123 (GRCm39)	missense	possibly damaging	0.94
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

2015-12-18