Mutagenetix > Incidental Mutation

Incidental Mutation 'R4301:Hspa1a'

322432

Institutional Source

Beutler Lab

Gene Symbol

Hspa1a

Ensembl Gene

ENSMUSG00000091971

Gene Name

heat shock protein 1A

Synonyms

Hsp68, Hsp70a1, Hsp70.3, Hsp70-3

MMRRC Submission

041088-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35188335-35191132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35189482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 474 (I474V)

Ref Sequence

ENSEMBL: ENSMUSP00000084586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007248] [ENSMUST00000087328] [ENSMUST00000173680]

AlphaFold

Q61696

Predicted Effect

probably benign
Transcript: ENSMUST00000007248

SMART Domains

Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033

Domain	Start	End	E-Value	Type
Pfam:HSP70	8	614	6.5e-269	PFAM
low complexity region	616	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087328
AA Change: I474V

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: I474V

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	612	1.3e-268	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173680

SMART Domains

Protein: ENSMUSP00000133726
Gene: ENSMUSG00000092609

Domain	Start	End	E-Value	Type
low complexity region	8	26	N/A	INTRINSIC
low complexity region	36	57	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
internal_repeat_1	91	102	5.9e-5	PROSPERO
internal_repeat_1	113	124	5.9e-5	PROSPERO
low complexity region	134	146	N/A	INTRINSIC

Meta Mutation Damage Score

0.1001

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: At the cellular level, mice homozygous for a knock-out allele exhibit impaired thermotolerance and increased sensitivity to heat stress-induced apoptosis. [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
Abi3bp	T	A	16: 56,377,266 (GRCm39)	V95D	probably damaging	Het
Adamtsl2	A	G	2: 26,977,295 (GRCm39)	D252G	probably null	Het
Adgra3	T	C	5: 50,118,420 (GRCm39)	R1043G	possibly damaging	Het
Atxn7l1	A	G	12: 33,417,237 (GRCm39)	D562G	probably damaging	Het
Ccdc70	T	C	8: 22,463,228 (GRCm39)	V6A	possibly damaging	Het
Cdc25a	T	C	9: 109,718,810 (GRCm39)	V337A	probably benign	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Crb1	A	G	1: 139,176,568 (GRCm39)	S472P	probably benign	Het
Fam193b	G	A	13: 55,690,417 (GRCm39)	R740*	probably null	Het
Fer	G	T	17: 64,385,905 (GRCm39)	L292F	probably damaging	Het
Gmppa	G	A	1: 75,419,140 (GRCm39)	R349H	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lrrc30	A	G	17: 67,939,563 (GRCm39)	S6P	probably damaging	Het
Lzts3	A	G	2: 130,478,358 (GRCm39)	S133P	probably damaging	Het
Mrtfb	T	C	16: 13,216,169 (GRCm39)	Y294H	probably damaging	Het
Mtmr12	T	A	15: 12,236,106 (GRCm39)	F122I	possibly damaging	Het
Mypn	A	G	10: 62,954,263 (GRCm39)	Y124H	probably damaging	Het
Nfat5	T	C	8: 108,082,327 (GRCm39)		probably benign	Het
Npr2	T	C	4: 43,641,332 (GRCm39)		probably null	Het
Or5a3	T	C	19: 12,400,081 (GRCm39)	L136P	probably damaging	Het
Pgm2	G	A	5: 64,261,140 (GRCm39)	W51*	probably null	Het
Phip	G	A	9: 82,841,766 (GRCm39)	R48*	probably null	Het
Piezo2	T	C	18: 63,217,911 (GRCm39)	T1075A	probably damaging	Het
Ppat	G	T	5: 77,076,348 (GRCm39)		probably benign	Het
Ppp2r2b	T	A	18: 43,031,811 (GRCm39)	E23D	probably null	Het
Prickle1	T	C	15: 93,406,517 (GRCm39)	I169V	possibly damaging	Het
Rab37	T	A	11: 115,049,390 (GRCm39)	D95E	possibly damaging	Het
Sash1	A	G	10: 8,627,234 (GRCm39)	V50A	probably benign	Het
Siae	C	A	9: 37,545,009 (GRCm39)	Q335K	possibly damaging	Het
Snx14	A	T	9: 88,292,676 (GRCm39)	I217K	probably damaging	Het
Son	A	G	16: 91,455,299 (GRCm39)	T1349A	possibly damaging	Het
Sptb	A	G	12: 76,659,471 (GRCm39)	L1143S	probably damaging	Het
Trim80	T	C	11: 115,335,939 (GRCm39)		probably null	Het
Trpm3	T	C	19: 22,964,656 (GRCm39)	S1374P	probably benign	Het
Vldlr	C	A	19: 27,215,802 (GRCm39)	D266E	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zbtb10	A	T	3: 9,330,220 (GRCm39)	Q526L	probably damaging	Het
Zfr2	T	C	10: 81,078,018 (GRCm39)		probably benign	Het
Zswim8	G	A	14: 20,763,977 (GRCm39)	R449H	possibly damaging	Het
Zzef1	T	C	11: 72,779,861 (GRCm39)	V1878A	probably damaging	Het

Other mutations in Hspa1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Hspa1a	APN	17	35,189,500 (GRCm39)	missense	probably damaging	1.00
IGL03380:Hspa1a	APN	17	35,189,253 (GRCm39)	missense	probably benign	0.17
R1983:Hspa1a	UTSW	17	35,189,938 (GRCm39)	missense	probably benign	0.01
R2117:Hspa1a	UTSW	17	35,189,455 (GRCm39)	missense	probably damaging	1.00
R3825:Hspa1a	UTSW	17	35,190,703 (GRCm39)	missense	probably damaging	1.00
R3905:Hspa1a	UTSW	17	35,190,703 (GRCm39)	missense	probably damaging	1.00
R3906:Hspa1a	UTSW	17	35,190,703 (GRCm39)	missense	probably damaging	1.00
R3908:Hspa1a	UTSW	17	35,190,703 (GRCm39)	missense	probably damaging	1.00
R3909:Hspa1a	UTSW	17	35,190,703 (GRCm39)	missense	probably damaging	1.00
R4453:Hspa1a	UTSW	17	35,189,269 (GRCm39)	missense	probably benign	0.32
R4610:Hspa1a	UTSW	17	35,190,156 (GRCm39)	missense	probably damaging	0.96
R4904:Hspa1a	UTSW	17	35,189,427 (GRCm39)	missense	probably damaging	1.00
R6253:Hspa1a	UTSW	17	35,189,526 (GRCm39)	missense	probably damaging	1.00
R6366:Hspa1a	UTSW	17	35,189,500 (GRCm39)	missense	probably damaging	1.00
R6478:Hspa1a	UTSW	17	35,189,282 (GRCm39)	missense	probably damaging	1.00
R6981:Hspa1a	UTSW	17	35,189,267 (GRCm39)	splice site	probably null
R8015:Hspa1a	UTSW	17	35,189,625 (GRCm39)	missense	probably damaging	1.00
R8487:Hspa1a	UTSW	17	35,191,033 (GRCm39)	start gained	probably benign
R8944:Hspa1a	UTSW	17	35,190,019 (GRCm39)	missense	probably benign	0.29
R9779:Hspa1a	UTSW	17	35,190,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAGGATTCGAGCGCGTTCTTG -3'
(R):5'- TGATGACGGCGCTCATCAAG -3'

Sequencing Primer
(F):5'- TTCTTGGCGGCCACCCTG -3'
(R):5'- GCTCATCAAGCGCAACTCC -3'

Posted On

2015-06-20