Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01564:Hspa1b'

90935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa1b

Ensembl Gene

ENSMUSG00000090877

Gene Name

heat shock protein 1B

Synonyms

Hsp70-1, hsp68, HSP70B1, Hsp70.1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.391) question?

Stock #

IGL01564

Quality Score

Status

Chromosome

Chromosomal Location

35175412-35178214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35176525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 487 (N487D)

Ref Sequence

ENSEMBL: ENSMUSP00000133815 (fasta)

Gene Model

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

AlphaFold

P17879

Predicted Effect

probably benign
Transcript: ENSMUST00000172753
AA Change: N487D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877
AA Change: N487D

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

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	A	10: 80,442,693 (GRCm39)	M177K	probably damaging	Het
Ankrd28	G	T	14: 31,477,724 (GRCm39)	T48K	probably damaging	Het
Capn3	T	C	2: 120,311,189 (GRCm39)	I112T	probably damaging	Het
Clec3a	T	A	8: 115,152,282 (GRCm39)	I96N	probably damaging	Het
Clic4	C	T	4: 134,944,504 (GRCm39)	A224T	probably damaging	Het
Eif2b3	T	C	4: 116,885,739 (GRCm39)	Y94H	probably benign	Het
Ep300	A	T	15: 81,516,665 (GRCm39)		probably benign	Het
Errfi1	C	A	4: 150,951,487 (GRCm39)	T305N	probably damaging	Het
Fam131c	T	A	4: 141,106,984 (GRCm39)		probably null	Het
Fbxo11	G	A	17: 88,310,324 (GRCm39)	T494I	probably benign	Het
Homer2	T	C	7: 81,268,320 (GRCm39)		probably null	Het
Hpf1	C	A	8: 61,343,513 (GRCm39)		probably benign	Het
Ikbke	C	A	1: 131,185,658 (GRCm39)	A617S	probably benign	Het
Jade1	G	T	3: 41,551,084 (GRCm39)	R174S	possibly damaging	Het
Lcmt1	T	C	7: 123,003,663 (GRCm39)	F139S	probably benign	Het
Lipo2	T	C	19: 33,698,424 (GRCm39)	T318A	probably benign	Het
Lrp1b	C	T	2: 40,567,498 (GRCm39)		probably benign	Het
Lsm14a	T	C	7: 34,088,780 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,345 (GRCm39)	D393G	probably benign	Het
Nfyb	T	C	10: 82,588,260 (GRCm39)	Y137C	probably damaging	Het
Or10g1	T	C	14: 52,648,299 (GRCm39)	D10G	probably benign	Het
Or5d35	A	T	2: 87,855,648 (GRCm39)	H194L	probably benign	Het
Or5p55	T	C	7: 107,567,198 (GRCm39)	I198T	probably benign	Het
Scn3a	A	C	2: 65,291,790 (GRCm39)	I1652S	probably damaging	Het
Slc33a1	C	T	3: 63,850,768 (GRCm39)	V519I	probably benign	Het
Strada	G	T	11: 106,064,118 (GRCm39)	N66K	probably damaging	Het
Thoc2l	A	T	5: 104,668,529 (GRCm39)	Y1017F	probably benign	Het
Tlr1	T	A	5: 65,083,189 (GRCm39)	I463F	probably damaging	Het
Tnfrsf19	G	T	14: 61,212,058 (GRCm39)	F197L	possibly damaging	Het
Tph1	T	A	7: 46,300,305 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,646,922 (GRCm39)	L3287H	probably damaging	Het
Vmn2r18	A	T	5: 151,508,633 (GRCm39)	S164T	possibly damaging	Het
Zan	C	T	5: 137,444,995 (GRCm39)	V1755I	unknown	Het
Zmym4	T	C	4: 126,805,073 (GRCm39)	I396V	possibly damaging	Het

Other mutations in Hspa1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0843:Hspa1b	UTSW	17	35,176,524 (GRCm39)	missense	possibly damaging	0.88
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

Posted On

2013-12-09