Mutagenetix > Incidental Mutation

Incidental Mutation 'R6366:Hspa1a'

512714

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

044516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35188335-35191132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35189500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 468 (P468S)

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 damaging
Transcript: ENSMUST00000087328
AA Change: P468S

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

SMART Domains

Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: P468S

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

0.7834

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.0%
20x: 93.4%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,584,766 (GRCm39)	F185L	probably damaging	Het
Ank3	A	G	10: 69,835,188 (GRCm39)	D131G	probably damaging	Het
Boc	T	C	16: 44,308,015 (GRCm39)	K947E	probably benign	Het
Ccdc110	A	G	8: 46,396,425 (GRCm39)	E772G	probably damaging	Het
Ccdc7a	A	G	8: 129,582,473 (GRCm39)	V1055A	unknown	Het
Chd1l	A	G	3: 97,501,476 (GRCm39)	V190A	probably benign	Het
Chl1	C	A	6: 103,706,197 (GRCm39)	N396K	possibly damaging	Het
CN725425	T	G	15: 91,131,124 (GRCm39)	Y420D	possibly damaging	Het
Col6a1	A	T	10: 76,546,804 (GRCm39)	I806N	unknown	Het
Csmd2	A	G	4: 128,377,245 (GRCm39)	K2042E	probably benign	Het
Eif4a1	G	T	11: 69,561,781 (GRCm39)	D15E	probably benign	Het
Etfb	T	C	7: 43,102,365 (GRCm39)	L119S	probably damaging	Het
Fbxo42	T	A	4: 140,927,260 (GRCm39)	S513R	probably benign	Het
Gys2	C	A	6: 142,409,120 (GRCm39)	C45F	probably benign	Het
Kdm2a	G	T	19: 4,374,960 (GRCm39)	Q724K	probably benign	Het
Lama3	G	T	18: 12,615,194 (GRCm39)	G1373W	probably damaging	Het
Lhx1	A	T	11: 84,413,034 (GRCm39)	F84Y	probably damaging	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrc7	T	C	3: 157,841,012 (GRCm39)	Q1389R	probably benign	Het
Lrtm2	T	C	6: 119,294,238 (GRCm39)	R298G	probably damaging	Het
Ltv1	A	G	10: 13,056,739 (GRCm39)	V268A	probably benign	Het
Mgat4d	T	A	8: 84,095,580 (GRCm39)		probably null	Het
Mknk2	C	A	10: 80,507,767 (GRCm39)	R33L	probably damaging	Het
Ms4a1	A	G	19: 11,236,062 (GRCm39)	S42P	probably damaging	Het
Muc16	T	C	9: 18,557,340 (GRCm39)	I2984M	unknown	Het
Mup12	A	C	4: 60,696,657 (GRCm39)	F74V	probably damaging	Het
Nacad	A	C	11: 6,551,196 (GRCm39)	L665R	probably benign	Het
Pde6a	T	A	18: 61,398,142 (GRCm39)		probably null	Het
Plb1	A	G	5: 32,471,429 (GRCm39)	N579D	possibly damaging	Het
Podn	T	A	4: 107,876,001 (GRCm39)	I552F	possibly damaging	Het
Potefam1	A	G	2: 110,999,937 (GRCm39)		probably null	Het
Pramel32	T	A	4: 88,547,102 (GRCm39)	I106F	probably damaging	Het
Prl3b1	A	T	13: 27,427,875 (GRCm39)	M62L	probably benign	Het
Ptpn13	G	T	5: 103,698,919 (GRCm39)	R1134L	probably damaging	Het
Rpl37	T	A	15: 5,147,990 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,311,607 (GRCm39)		probably null	Het
Sh3rf2	T	C	18: 42,286,130 (GRCm39)	V541A	probably benign	Het
Shcbp1	A	G	8: 4,799,380 (GRCm39)	V335A	probably damaging	Het
Slc7a7	T	C	14: 54,612,057 (GRCm39)	Y282C	probably damaging	Het
Spag7	T	C	11: 70,555,418 (GRCm39)	K125E	possibly damaging	Het
Spata31e4	T	C	13: 50,855,972 (GRCm39)	Y537H	probably benign	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Stab1	T	C	14: 30,863,395 (GRCm39)	K2097R	probably benign	Het
Stk38	A	G	17: 29,193,338 (GRCm39)	W364R	probably benign	Het
Tectb	G	A	19: 55,170,350 (GRCm39)	G67D	probably damaging	Het
Ttll9	G	T	2: 152,833,525 (GRCm39)	D208Y	probably damaging	Het
Tyro3	G	A	2: 119,647,156 (GRCm39)	D758N	probably damaging	Het
Tyw1	T	C	5: 130,310,792 (GRCm39)		probably benign	Het
Unc5b	C	T	10: 60,614,091 (GRCm39)	A253T	probably benign	Het
Wtap	A	T	17: 13,186,945 (GRCm39)		probably null	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
R4301:Hspa1a	UTSW	17	35,189,482 (GRCm39)	missense	probably benign	0.11
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
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'- AAGGCATAGGATTCGAGCGC -3'
(R):5'- TGATGACGGCGCTCATCAAG -3'

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

Posted On

2018-04-27