Mutagenetix > Incidental Mutation

Incidental Mutation 'R6076:Hspa1b'

482767

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

044237-MU

Accession Numbers

Essential gene?

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

Stock #

R6076 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

35175412-35178214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35176473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 504 (T504I)

Ref Sequence

ENSEMBL: ENSMUSP00000133815 (fasta)

Gene Model

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

AlphaFold

P17879

Predicted Effect

probably damaging
Transcript: ENSMUST00000172753
AA Change: T504I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877
AA Change: T504I

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp6v0a1	T	A	11: 100,945,886 (GRCm39)	I723N	probably damaging	Het
C530025M09Rik	T	C	2: 149,672,670 (GRCm39)		probably benign	Het
Cdkn1a	A	G	17: 29,318,332 (GRCm39)	K149E	probably damaging	Het
Cep70	T	A	9: 99,180,558 (GRCm39)	I571N	probably damaging	Het
Cimip4	T	C	15: 78,270,427 (GRCm39)	R114G	possibly damaging	Het
Col9a1	A	T	1: 24,234,457 (GRCm39)		probably benign	Het
Csde1	G	A	3: 102,948,545 (GRCm39)	D132N	possibly damaging	Het
Dlk1	A	G	12: 109,425,895 (GRCm39)	Q256R	probably damaging	Het
Epha6	A	T	16: 60,026,073 (GRCm39)	D456E	probably damaging	Het
Ephx2	A	G	14: 66,330,297 (GRCm39)	V354A	probably damaging	Het
Fpr-rs4	A	G	17: 18,242,317 (GRCm39)	N108S	probably damaging	Het
Gimap1	C	T	6: 48,719,521 (GRCm39)	Q116*	probably null	Het
Gm10784	T	C	13: 50,099,310 (GRCm39)		noncoding transcript	Het
Grid2ip	G	C	5: 143,373,130 (GRCm39)	S736T	probably benign	Het
Hic1	T	C	11: 75,058,154 (GRCm39)	D245G	probably damaging	Het
Hpcal4	C	A	4: 123,084,514 (GRCm39)	Q148K	probably benign	Het
Hspa14	C	T	2: 3,512,109 (GRCm39)	S55N	probably benign	Het
Jchain	G	T	5: 88,675,631 (GRCm39)	T3N	probably benign	Het
Kl	C	G	5: 150,876,466 (GRCm39)	F95L	probably damaging	Het
Kndc1	A	G	7: 139,481,954 (GRCm39)	T115A	probably damaging	Het
Lrp8	G	T	4: 107,704,656 (GRCm39)	R292L	possibly damaging	Het
Lrrc15	T	A	16: 30,091,806 (GRCm39)	D511V	probably benign	Het
Mapk8	A	G	14: 33,112,250 (GRCm39)	C213R	probably damaging	Het
Mcph1	C	T	8: 18,682,015 (GRCm39)	P384L	probably benign	Het
Mrps7	T	C	11: 115,495,713 (GRCm39)	S84P	probably damaging	Het
Nceh1	A	C	3: 27,333,344 (GRCm39)	I147L	probably benign	Het
Noxa1	A	T	2: 24,975,821 (GRCm39)	I409N	probably damaging	Het
Or1p1c	T	C	11: 74,161,088 (GRCm39)	I291T	probably damaging	Het
Pkd1	G	A	17: 24,800,004 (GRCm39)	G2975R	probably benign	Het
Ppip5k1	T	C	2: 121,167,591 (GRCm39)	D17G	probably null	Het
Prex2	T	A	1: 11,256,174 (GRCm39)	Y1182N	probably benign	Het
Rasa2	T	C	9: 96,427,699 (GRCm39)	N722S	probably benign	Het
Rcc1l	A	G	5: 134,198,167 (GRCm39)	V155A	possibly damaging	Het
Rest	A	G	5: 77,430,821 (GRCm39)	E1080G	unknown	Het
Sacs	A	T	14: 61,441,985 (GRCm39)	K1344*	probably null	Het
Sec16a	C	T	2: 26,313,954 (GRCm39)	E1884K	probably damaging	Het
Secisbp2	C	A	13: 51,833,813 (GRCm39)	T651K	probably damaging	Het
Sema3e	A	G	5: 14,291,100 (GRCm39)	D620G	probably benign	Het
Slc6a17	A	G	3: 107,379,387 (GRCm39)	S553P	possibly damaging	Het
Smpd5	C	A	15: 76,179,092 (GRCm39)	N153K	probably damaging	Het
Ube2d4	T	A	15: 58,718,992 (GRCm39)		noncoding transcript	Het
Vps13c	A	G	9: 67,818,884 (GRCm39)	I1102V	probably damaging	Het
Wdr36	C	A	18: 32,979,998 (GRCm39)	S241Y	probably damaging	Het
Wdr7	T	A	18: 63,872,348 (GRCm39)	D427E	probably damaging	Het
Zfp945	G	A	17: 23,070,432 (GRCm39)	P489L	probably damaging	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
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
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'- AGATGACCTCCTGGCACTTG -3'
(R):5'- TGCTGATCCAGGTGTACGAG -3'

Sequencing Primer
(F):5'- TGGCACTTGTCCAGCAC -3'
(R):5'- CCAGGTGTACGAGGGCGAG -3'

Posted On

2017-07-14