Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Hspa1b'

537776

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

044935-MU

Accession Numbers

Essential gene?

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

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35175412-35178214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35177161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 275 (S275T)

Ref Sequence

ENSEMBL: ENSMUSP00000133815 (fasta)

Gene Model

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

AlphaFold

P17879

Predicted Effect

probably benign
Transcript: ENSMUST00000172753
AA Change: S275T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877
AA Change: S275T

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

Meta Mutation Damage Score

0.1550

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,626,735 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,705,200 (GRCm39)	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,501,231 (GRCm39)	S384G	probably benign	Het
Anxa8	A	T	14: 33,816,722 (GRCm39)	D204V	possibly damaging	Het
Asap3	A	T	4: 135,954,883 (GRCm39)	E71V	possibly damaging	Het
BC024139	T	C	15: 76,003,946 (GRCm39)	*773W	probably null	Het
Bckdhb	T	C	9: 83,835,814 (GRCm39)	V106A	possibly damaging	Het
Cep250	A	G	2: 155,823,379 (GRCm39)	D1010G	probably benign	Het
Chrd	T	A	16: 20,553,486 (GRCm39)	L243Q	probably damaging	Het
Cib2	G	T	9: 54,457,175 (GRCm39)	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,510,248 (GRCm39)	L113*	probably null	Het
Cubn	T	A	2: 13,449,840 (GRCm39)	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,329,899 (GRCm39)	R351I	probably benign	Het
Cyp2a12	A	T	7: 26,733,581 (GRCm39)	D320V	possibly damaging	Het
Dact1	C	G	12: 71,364,713 (GRCm39)	P498R	probably benign	Het
Diaph1	T	A	18: 38,009,436 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,495,863 (GRCm39)	I3198N	probably benign	Het
Dop1b	A	T	16: 93,552,373 (GRCm39)	I271F	possibly damaging	Het
Elp1	A	G	4: 56,787,939 (GRCm39)	Y331H	probably damaging	Het
Erich3	C	A	3: 154,433,074 (GRCm39)	F349L	probably damaging	Het
Fam187b	G	C	7: 30,688,715 (GRCm39)	V358L	probably benign	Het
Fat4	T	A	3: 39,038,088 (GRCm39)	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,865,934 (GRCm39)	E118D	probably benign	Het
Fgf1	A	G	18: 38,980,161 (GRCm39)	I71T	probably damaging	Het
Fryl	A	T	5: 73,222,560 (GRCm39)	I2007K	probably damaging	Het
Galnt2	C	G	8: 125,050,750 (GRCm39)	P130A	probably benign	Het
H1f10	G	A	6: 87,958,284 (GRCm39)	R19C	probably damaging	Het
Hmga2	A	C	10: 120,311,929 (GRCm39)	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,209,480 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,814 (GRCm39)	I756F	probably damaging	Het
Kcnh1	T	C	1: 192,187,597 (GRCm39)	*99R	probably null	Het
Kit	C	A	5: 75,813,309 (GRCm39)	L864I	probably benign	Het
Klk14	A	T	7: 43,343,880 (GRCm39)	K196*	probably null	Het
Lmod1	A	G	1: 135,252,905 (GRCm39)	N53S	probably damaging	Het
Myh13	T	C	11: 67,246,984 (GRCm39)	M1235T	probably benign	Het
Neurl3	T	A	1: 36,307,785 (GRCm39)	K175*	probably null	Het
Nlgn2	T	A	11: 69,716,750 (GRCm39)	K597M	probably damaging	Het
Npdc1	T	C	2: 25,299,121 (GRCm39)	M306T	probably damaging	Het
Obscn	C	T	11: 58,958,769 (GRCm39)		probably null	Het
Or1p1b	T	C	11: 74,130,522 (GRCm39)	L44P	probably damaging	Het
Or52m2	G	A	7: 102,263,693 (GRCm39)	L168F	probably damaging	Het
Or8b49	T	C	9: 38,506,201 (GRCm39)	I228T	possibly damaging	Het
Pbrm1	A	T	14: 30,806,747 (GRCm39)	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,727,921 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Phf12	C	T	11: 77,913,337 (GRCm39)	Q430*	probably null	Het
Plaat5	A	T	19: 7,616,861 (GRCm39)		probably benign	Het
Pld3	C	T	7: 27,235,322 (GRCm39)	R302H	probably damaging	Het
Plekha5	T	C	6: 140,471,584 (GRCm39)	S112P	probably benign	Het
Pmfbp1	T	A	8: 110,256,939 (GRCm39)	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,503,382 (GRCm39)	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078 (GRCm38)		probably benign	Het
Psmg2	A	T	18: 67,781,927 (GRCm39)	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824 (GRCm38)	R155G	probably damaging	Het
Rnf215	T	C	11: 4,086,609 (GRCm39)	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtkn2	G	A	10: 67,862,462 (GRCm39)	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,218,814 (GRCm39)	I472F	probably benign	Het
Snx14	T	C	9: 88,276,435 (GRCm39)	N617D	possibly damaging	Het
Spire2	T	C	8: 124,083,466 (GRCm39)	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,064,787 (GRCm39)	R1904M	probably damaging	Het
Swap70	A	G	7: 109,880,510 (GRCm39)	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,896,087 (GRCm39)	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,709,872 (GRCm39)	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,297,780 (GRCm39)	S207T	probably damaging	Het
Timm44	A	G	8: 4,317,282 (GRCm39)	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,633,849 (GRCm39)	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,788,035 (GRCm39)	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,412,513 (GRCm39)	L28I	probably benign	Het
Tph2	T	A	10: 115,010,011 (GRCm39)	N183I	probably benign	Het
Ttyh1	T	C	7: 4,125,528 (GRCm39)	I60T	probably damaging	Het
Ubn1	T	G	16: 4,882,411 (GRCm39)	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,842 (GRCm39)	N2019S	probably benign	Het
Wbp2	T	C	11: 115,977,736 (GRCm39)	N6D	probably benign	Het
Wdr59	T	A	8: 112,185,672 (GRCm39)	E810V	possibly damaging	Het
Wiz	T	C	17: 32,579,395 (GRCm39)	D220G	probably damaging	Het
Yipf7	A	G	5: 69,674,413 (GRCm39)	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,790,972 (GRCm39)	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,644,472 (GRCm39)		probably benign	Het
Zfp707	C	T	15: 75,841,572 (GRCm39)		probably benign	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
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
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'- TGAAGAAGTCCTGCAGCAG -3'
(R):5'- TGTCCATCCTGACGATCGAC -3'

Sequencing Primer
(F):5'- AGAAGTCCTGCAGCAGCTTCTG -3'
(R):5'- ATCGACGACGGCATCTTC -3'

Posted On

2018-10-18