Mutagenetix > Incidental Mutation

Incidental Mutation 'R0350:Hsf1'

29670

Institutional Source

Beutler Lab

Gene Symbol

Hsf1

Ensembl Gene

ENSMUSG00000022556

Gene Name

heat shock factor 1

Synonyms

heat shock transcription factor 1

MMRRC Submission

038557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76361562-76385355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76384679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 485 (T485A)

Ref Sequence

ENSEMBL: ENSMUSP00000154638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000229363] [ENSMUST00000228868] [ENSMUST00000226860] [ENSMUST00000226872]

AlphaFold

P38532

Predicted Effect

probably benign
Transcript: ENSMUST00000023214

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
low complexity region	41	57	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
Pfam:MBOAT	162	485	8.4e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072838
AA Change: T457A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
AA Change: T457A

Domain	Start	End	E-Value	Type
HSF	14	118	2.27e-66	SMART
Pfam:Vert_HS_TF	247	414	6e-65	PFAM
Pfam:Vert_HS_TF	412	503	1.9e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160293

SMART Domains

Protein: ENSMUSP00000123779
Gene: ENSMUSG00000022555

Domain	Start	End	E-Value	Type
Pfam:MBOAT	41	201	4.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162813

Predicted Effect

probably benign
Transcript: ENSMUST00000227478
AA Change: T479A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

unknown
Transcript: ENSMUST00000226238
AA Change: T205A

Predicted Effect

probably benign
Transcript: ENSMUST00000228371
AA Change: T485A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227921

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162354

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phsphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Aug 2016]
PHENOTYPE: Inactivation of this gene results in female infertility. Additional abnormalities observed in one line of targeted mice include placental defects, growth retardation, loss of the classical heat shock response, and impaired immune response. [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
Abhd13	T	A	8: 10,037,600 (GRCm39)	Y66N	probably damaging	Het
Apol6	C	T	15: 76,935,147 (GRCm39)	Q139*	probably null	Het
Armh1	C	A	4: 117,072,753 (GRCm39)	E244*	probably null	Het
Cd1d1	A	T	3: 86,904,880 (GRCm39)	H219Q	probably benign	Het
Cdca2	A	G	14: 67,950,568 (GRCm39)	L121P	probably benign	Het
Cdin1	T	C	2: 115,607,411 (GRCm39)	Y255H	possibly damaging	Het
Cog4	T	A	8: 111,580,328 (GRCm39)	L133I	possibly damaging	Het
Csf1	T	C	3: 107,655,922 (GRCm39)	M370V	probably benign	Het
Ddi2	G	A	4: 141,412,834 (GRCm39)	T26M	probably benign	Het
Dhcr7	A	G	7: 143,391,507 (GRCm39)	D32G	probably damaging	Het
Efcab3	T	C	11: 104,581,706 (GRCm39)	V16A	probably benign	Het
Exd1	T	C	2: 119,354,047 (GRCm39)	N337S	possibly damaging	Het
Flii	T	C	11: 60,612,683 (GRCm39)	D227G	probably damaging	Het
Igfn1	G	A	1: 135,884,505 (GRCm39)	R2614*	probably null	Het
Iqch	T	C	9: 63,408,158 (GRCm39)	T630A	probably benign	Het
Itgal	T	A	7: 126,921,253 (GRCm39)	D770E	probably damaging	Het
Mroh1	T	A	15: 76,316,449 (GRCm39)	V759E	probably damaging	Het
Mrps17	A	G	5: 129,795,209 (GRCm39)		probably benign	Het
Mtpap	A	G	18: 4,396,195 (GRCm39)	S496G	possibly damaging	Het
Nkd1	T	A	8: 89,311,844 (GRCm39)	Y39*	probably null	Het
Nmd3	A	G	3: 69,650,907 (GRCm39)	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,022,170 (GRCm39)	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,341,112 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,112,926 (GRCm39)		probably null	Het
Or4c113	T	A	2: 88,885,700 (GRCm39)	K23N	probably benign	Het
Or8b12i	A	T	9: 20,082,032 (GRCm39)	Y278*	probably null	Het
Pnn	T	C	12: 59,113,903 (GRCm39)		probably null	Het
Ppm1j	A	G	3: 104,690,687 (GRCm39)	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,172,442 (GRCm39)	L650Q	probably damaging	Het
Prss37	T	C	6: 40,491,893 (GRCm39)	E229G	probably damaging	Het
Rbm19	T	C	5: 120,266,372 (GRCm39)	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,278,331 (GRCm39)	V372F	probably damaging	Het
Sema6a	G	T	18: 47,403,785 (GRCm39)	D595E	probably benign	Het
Slc35c1	A	G	2: 92,289,377 (GRCm39)	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,232,619 (GRCm39)		probably null	Het
Slco4c1	A	G	1: 96,756,574 (GRCm39)	F583L	probably benign	Het
Sox9	A	G	11: 112,675,702 (GRCm39)	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,564,884 (GRCm39)	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,861,321 (GRCm39)		probably null	Het
Uba6	A	C	5: 86,292,237 (GRCm39)	V402G	possibly damaging	Het
Usp43	T	C	11: 67,767,324 (GRCm39)	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,463,403 (GRCm39)	D291G	probably damaging	Het
Xpr1	A	T	1: 155,206,214 (GRCm39)	F156Y	probably damaging	Het
Yju2b	C	T	8: 84,987,277 (GRCm39)	E99K	probably damaging	Het
Zfp318	T	A	17: 46,724,124 (GRCm39)	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,081,222 (GRCm39)	D417E	possibly damaging	Het

Other mutations in Hsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Hsf1	APN	15	76,382,403 (GRCm39)	missense	probably benign	0.01
IGL01668:Hsf1	APN	15	76,381,162 (GRCm39)	critical splice donor site	probably null
IGL01724:Hsf1	APN	15	76,381,037 (GRCm39)	missense	possibly damaging	0.83
IGL02111:Hsf1	APN	15	76,380,281 (GRCm39)	splice site	probably benign
IGL02503:Hsf1	APN	15	76,382,870 (GRCm39)	missense	probably benign	0.03
IGL03137:Hsf1	APN	15	76,380,649 (GRCm39)	splice site	probably benign
R6906:Hsf1	UTSW	15	76,361,919 (GRCm39)	critical splice donor site	probably null
R7170:Hsf1	UTSW	15	76,384,221 (GRCm39)	missense	probably damaging	1.00
R7749:Hsf1	UTSW	15	76,383,387 (GRCm39)	missense	probably benign	0.38
R7950:Hsf1	UTSW	15	76,382,393 (GRCm39)	missense	probably benign
R8050:Hsf1	UTSW	15	76,382,481 (GRCm39)	missense	probably benign	0.16
R8724:Hsf1	UTSW	15	76,381,999 (GRCm39)	missense	probably damaging	1.00
R8752:Hsf1	UTSW	15	76,384,344 (GRCm39)	nonsense	probably null
R8919:Hsf1	UTSW	15	76,382,051 (GRCm39)	missense	probably benign	0.03
R9444:Hsf1	UTSW	15	76,384,769 (GRCm39)	missense	probably damaging	0.98
R9487:Hsf1	UTSW	15	76,382,398 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TTGAGGCAGAGAACAGTAACCCCG -3'
(R):5'- TACTGCCCAGGACCAAGTTCCATC -3'

Sequencing Primer
(F):5'- GACTCAGGTGAGAGCTAAGCTTC -3'
(R):5'- AGGACCAAGTTCCATCTGTGC -3'

Posted On

2013-04-24