Mutagenetix > Incidental Mutation

Incidental Mutation 'R0843:Hspa1b'

77274

Institutional Source

Beutler Lab

Gene Symbol

Hspa1b

Ensembl Gene

ENSMUSG00000090877

Gene Name

heat shock protein 1B

Synonyms

Hsp70-1, hsp68, HSP70B1, Hsp70.1

MMRRC Submission

039022-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

R0843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35175412-35178214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35176524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 487 (N487I)

Ref Sequence

ENSEMBL: ENSMUSP00000133815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172753]

AlphaFold

P17879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172753
AA Change: N487I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877
AA Change: N487I

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	612	1.3e-268	PFAM
low complexity region	613	631	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174777

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.6%

Validation Efficiency

98% (40/41)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to focal cerebral ischemic injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	T	C	18: 62,312,142 (GRCm39)	R228G	probably benign	Het
Arrdc3	T	C	13: 81,038,922 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,846,828 (GRCm39)	Y526C	probably damaging	Het
Cenpn	T	C	8: 117,660,045 (GRCm39)	V125A	probably benign	Het
Cyfip1	A	T	7: 55,572,568 (GRCm39)	H963L	probably benign	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
Dnmt3a	T	C	12: 3,922,886 (GRCm39)		probably benign	Het
Dync1h1	C	T	12: 110,631,647 (GRCm39)	T4448M	possibly damaging	Het
Efr3a	T	A	15: 65,709,272 (GRCm39)		probably benign	Het
Fgf11	T	G	11: 69,689,602 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,161,717 (GRCm39)	I347N	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Iqgap3	A	G	3: 88,015,738 (GRCm39)	D40G	possibly damaging	Het
Iyd	T	C	10: 3,495,663 (GRCm39)	V107A	possibly damaging	Het
Kctd3	A	T	1: 188,729,170 (GRCm39)	L129*	probably null	Het
Myo7b	A	G	18: 32,107,137 (GRCm39)	F1286S	possibly damaging	Het
Or4a47	C	T	2: 89,665,960 (GRCm39)	V110I	probably benign	Het
Or52s1b	T	A	7: 102,822,326 (GRCm39)	T173S	possibly damaging	Het
Or8c15	T	A	9: 38,120,579 (GRCm39)	F77I	possibly damaging	Het
Pcsk5	T	A	19: 17,632,182 (GRCm39)	Y328F	probably damaging	Het
Plxnb1	T	C	9: 108,942,769 (GRCm39)	L1810P	probably benign	Het
Polr2h	T	A	16: 20,537,649 (GRCm39)	V50E	probably damaging	Het
Ppm1g	T	C	5: 31,364,895 (GRCm39)		probably benign	Het
Ptpru	T	A	4: 131,525,259 (GRCm39)	R741S	probably benign	Het
Pyroxd2	T	C	19: 42,735,986 (GRCm39)	E64G	probably damaging	Het
Rad54b	T	C	4: 11,609,471 (GRCm39)		probably null	Het
Rangap1	A	T	15: 81,594,703 (GRCm39)	D375E	probably benign	Het
Rhbdf1	G	A	11: 32,165,053 (GRCm39)	R107C	probably damaging	Het
Scaf11	T	C	15: 96,329,706 (GRCm39)	E140G	probably damaging	Het
Slitrk6	G	T	14: 110,987,530 (GRCm39)	H726N	probably benign	Het
Spry2	A	G	14: 106,130,524 (GRCm39)	C221R	probably damaging	Het
Stx2	C	T	5: 129,076,612 (GRCm39)	V24M	probably damaging	Het
Tent5b	T	C	4: 133,213,842 (GRCm39)	S238P	probably damaging	Het
Tll2	T	A	19: 41,116,902 (GRCm39)		probably null	Het
Ttyh3	C	A	5: 140,612,201 (GRCm39)		probably null	Het
Vmn2r116	T	C	17: 23,619,934 (GRCm39)	V556A	probably benign	Het
Xpo5	T	C	17: 46,533,576 (GRCm39)		probably benign	Het
Zc3h3	A	G	15: 75,709,328 (GRCm39)	S514P	probably benign	Het
Zfp277	A	C	12: 40,370,599 (GRCm39)		probably null	Het

Other mutations in Hspa1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Hspa1b	APN	17	35,176,525 (GRCm39)	missense	probably benign	0.31
FR4548:Hspa1b	UTSW	17	35,176,105 (GRCm39)	small deletion	probably benign
FR4737:Hspa1b	UTSW	17	35,176,105 (GRCm39)	small deletion	probably benign
R0271:Hspa1b	UTSW	17	35,177,808 (GRCm39)	missense	probably benign	0.02
R2679:Hspa1b	UTSW	17	35,176,279 (GRCm39)	missense	probably benign	0.09
R5007:Hspa1b	UTSW	17	35,177,086 (GRCm39)	missense	probably benign	0.08
R5121:Hspa1b	UTSW	17	35,176,980 (GRCm39)	missense	possibly damaging	0.89
R5261:Hspa1b	UTSW	17	35,177,983 (GRCm39)	start codon destroyed	probably null
R6076:Hspa1b	UTSW	17	35,176,473 (GRCm39)	missense	probably damaging	1.00
R6523:Hspa1b	UTSW	17	35,176,167 (GRCm39)	missense	probably benign	0.42
R6823:Hspa1b	UTSW	17	35,177,161 (GRCm39)	missense	probably benign	0.02
R7536:Hspa1b	UTSW	17	35,177,851 (GRCm39)	missense	possibly damaging	0.51
R7898:Hspa1b	UTSW	17	35,177,167 (GRCm39)	missense	probably benign	0.38
R8186:Hspa1b	UTSW	17	35,176,557 (GRCm39)	missense	probably damaging	1.00
R8691:Hspa1b	UTSW	17	35,176,072 (GRCm39)	missense	possibly damaging	0.79
R9380:Hspa1b	UTSW	17	35,177,170 (GRCm39)	missense	probably damaging	1.00
R9677:Hspa1b	UTSW	17	35,177,860 (GRCm39)	missense	probably benign	0.02
R9719:Hspa1b	UTSW	17	35,176,467 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCGCTCTTCATGTTGAAGGCATAG -3'
(R):5'- GACTTCTACACATCCATCACGCGG -3'

Sequencing Primer
(F):5'- CTTCATGTTGAAGGCATAGGACTC -3'
(R):5'- TGCAGGACTTCTTCAACGG -3'

Posted On

2013-10-16