Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Hspa1a'

506361

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

044370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35188335-35191132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35189526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 459 (F459S)

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: F459S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971
AA Change: F459S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,528,929 (GRCm39)	Y151H	possibly damaging	Het
Aasdh	A	G	5: 77,034,105 (GRCm39)	I482T	possibly damaging	Het
Abca3	G	A	17: 24,616,526 (GRCm39)	M989I	probably benign	Het
Acvr2b	C	T	9: 119,257,627 (GRCm39)	P220L	probably damaging	Het
Aqr	T	C	2: 113,986,758 (GRCm39)	D204G	possibly damaging	Het
Arpp19	G	T	9: 74,964,016 (GRCm39)	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,983,881 (GRCm39)	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,005,420 (GRCm39)	M1V	probably null	Het
Cdh3	T	A	8: 107,263,695 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,607,960 (GRCm39)	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Cog3	A	G	14: 75,957,152 (GRCm39)	L627P	probably damaging	Het
Col23a1	C	T	11: 51,464,995 (GRCm39)	L453F	probably damaging	Het
Cyp2a22	T	A	7: 26,633,657 (GRCm39)	Q351L	probably benign	Het
Ddx4	T	G	13: 112,772,557 (GRCm39)	K77N	probably benign	Het
Ddx4	C	A	13: 112,772,556 (GRCm39)	E78*	probably null	Het
Decr1	A	T	4: 15,931,179 (GRCm39)	N92K	probably benign	Het
Dnm2	T	C	9: 21,411,571 (GRCm39)	L600P	probably damaging	Het
Ece2	A	C	16: 20,457,932 (GRCm39)	N356H	probably damaging	Het
Ern1	A	T	11: 106,317,734 (GRCm39)	I130N	possibly damaging	Het
Fat2	G	A	11: 55,187,097 (GRCm39)	R1250C	probably damaging	Het
Fat4	T	A	3: 39,005,505 (GRCm39)	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,923,987 (GRCm39)	K82E	probably damaging	Het
Gm5431	A	G	11: 48,785,826 (GRCm39)	V183A	probably benign	Het
Golgb1	T	C	16: 36,735,984 (GRCm39)	S1744P	possibly damaging	Het
Hnrnpa3	C	G	2: 75,492,914 (GRCm39)	Q213E	possibly damaging	Het
Ice1	A	G	13: 70,751,283 (GRCm39)	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,713,323 (GRCm39)	D102V	probably damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Lpin2	T	A	17: 71,538,264 (GRCm39)	S303R	probably damaging	Het
Lrpprc	T	A	17: 85,048,065 (GRCm39)	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593 (GRCm39)	T4259A	probably benign	Het
Mtcl2	T	C	2: 156,863,339 (GRCm39)	S1197G	probably benign	Het
Mtss1	A	G	15: 58,815,568 (GRCm39)	I664T	probably benign	Het
Myh8	A	G	11: 67,192,793 (GRCm39)	E1528G	probably benign	Het
Myo5c	A	T	9: 75,152,319 (GRCm39)	E69V	probably damaging	Het
Myom3	A	T	4: 135,513,203 (GRCm39)	D627V	probably benign	Het
Myom3	A	G	4: 135,528,314 (GRCm39)	N1053S	probably benign	Het
Or10a4	G	A	7: 106,697,464 (GRCm39)	R264H	possibly damaging	Het
Or2d2b	A	T	7: 106,705,145 (GRCm39)	S308T	probably benign	Het
Or6z3	T	C	7: 6,463,547 (GRCm39)	V13A	probably benign	Het
Phactr1	T	A	13: 43,248,247 (GRCm39)	S399T	probably benign	Het
Plch2	T	A	4: 155,091,558 (GRCm39)	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,802,160 (GRCm39)	S278P	probably benign	Het
Prol1	A	G	5: 88,475,736 (GRCm39)	Y42C	probably damaging	Het
Pum2	A	G	12: 8,798,205 (GRCm39)	E906G	probably damaging	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rbp4	G	A	19: 38,113,428 (GRCm39)	T30M	probably benign	Het
Selenbp1	T	C	3: 94,851,157 (GRCm39)	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 33,156,255 (GRCm39)	F115S	probably damaging	Het
Tigd3	A	T	19: 5,942,870 (GRCm39)	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,782,871 (GRCm39)	L411H	probably damaging	Het
Ttc3	T	C	16: 94,258,272 (GRCm39)		probably null	Het
Uhmk1	T	C	1: 170,027,449 (GRCm39)	Q416R	probably damaging	Het
Zfand4	T	C	6: 116,250,575 (GRCm39)	F2L	probably damaging	Het
Zfhx3	C	T	8: 109,682,020 (GRCm39)	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,334,855 (GRCm39)	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,602,685 (GRCm39)	T172A	probably benign	Het
Znrf3	G	T	11: 5,230,865 (GRCm39)	L883I	probably benign	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
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'- AGGATTCGAGCGCGTTCTTG -3'
(R):5'- GCGACCTGAACAAGAGCATC -3'

Sequencing Primer
(F):5'- GCACCATGCGCTCGATCTC -3'
(R):5'- CATCCTGATGGGGGACAAGTC -3'

Posted On

2018-03-15