Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02503:Hsf1'

296175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsf1

Ensembl Gene

ENSMUSG00000022556

Gene Name

heat shock factor 1

Synonyms

heat shock transcription factor 1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02503

Quality Score

Status

Chromosome

Chromosomal Location

76361562-76385355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76382870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 370 (L370P)

Ref Sequence

ENSEMBL: ENSMUSP00000154328 (fasta)

Gene Model

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

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: L370P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
AA Change: L370P

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: 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: ENSMUST00000162354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162813

Predicted Effect

probably benign
Transcript: ENSMUST00000226872
AA Change: L370P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000229363
AA Change: L370P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000227478
AA Change: L370P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

unknown
Transcript: ENSMUST00000226238
AA Change: L96P

Predicted Effect

probably benign
Transcript: ENSMUST00000228371
AA Change: L370P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,008,962 (GRCm39)	W822R	probably damaging	Het
Ago4	A	T	4: 126,390,598 (GRCm39)	Y807*	probably null	Het
Alkbh8	G	A	9: 3,347,852 (GRCm39)	G215D	probably damaging	Het
Cfap57	C	T	4: 118,426,545 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,804,687 (GRCm39)	V1833M	probably damaging	Het
Cyp4f17	T	C	17: 32,743,940 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,909,621 (GRCm39)	Y1411*	probably null	Het
Dmrtc1b	T	A	X: 101,758,366 (GRCm39)	S199T	possibly damaging	Het
Elk4	A	G	1: 131,942,277 (GRCm39)	N50D	probably damaging	Het
Filip1l	T	A	16: 57,391,938 (GRCm39)	V604E	probably benign	Het
Fmo3	A	T	1: 162,796,433 (GRCm39)	H46Q	probably benign	Het
Fndc1	T	A	17: 7,990,348 (GRCm39)	Y1116F	unknown	Het
Fpr-rs3	T	A	17: 20,844,817 (GRCm39)	N108I	probably damaging	Het
Glmn	A	T	5: 107,710,644 (GRCm39)	M316K	probably damaging	Het
Gm5591	C	A	7: 38,219,433 (GRCm39)	R480I	probably damaging	Het
Gm8122	G	T	14: 43,092,645 (GRCm39)	R39S	unknown	Het
Gprasp1	T	A	X: 134,703,279 (GRCm39)	Y1157*	probably null	Het
H2bc21	A	G	3: 96,128,539 (GRCm39)	T20A	probably benign	Het
Iqsec1	T	A	6: 90,645,770 (GRCm39)	I809F	probably damaging	Het
Itsn1	G	T	16: 91,686,092 (GRCm39)	M54I	possibly damaging	Het
Klra2	T	C	6: 131,207,057 (GRCm39)	N184S	probably benign	Het
Lifr	T	A	15: 7,215,104 (GRCm39)	V737E	probably damaging	Het
Lrpprc	T	C	17: 85,033,767 (GRCm39)	T1037A	probably benign	Het
Map3k13	A	T	16: 21,727,454 (GRCm39)	I439F	possibly damaging	Het
Megf8	T	C	7: 25,062,988 (GRCm39)	V2448A	possibly damaging	Het
Mthfd1l	T	A	10: 4,033,824 (GRCm39)	V737D	probably damaging	Het
Mtm1	A	G	X: 70,343,276 (GRCm39)	T386A	probably damaging	Het
Muc5b	T	C	7: 141,421,404 (GRCm39)	V4298A	probably benign	Het
Or10ag2	T	G	2: 87,248,636 (GRCm39)	F81L	probably benign	Het
Or5w18	A	T	2: 87,632,864 (GRCm39)	I44F	probably benign	Het
Or8k21	C	T	2: 86,144,983 (GRCm39)	G216R	possibly damaging	Het
Plch1	A	G	3: 63,605,285 (GRCm39)	S1531P	probably damaging	Het
Poc1b	T	A	10: 98,980,210 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,815,924 (GRCm39)	N1065K	probably benign	Het
Rpsa	A	G	9: 119,957,659 (GRCm39)	E35G	possibly damaging	Het
Scfd1	T	A	12: 51,469,704 (GRCm39)	D416E	possibly damaging	Het
Sdad1	A	T	5: 92,449,661 (GRCm39)		probably benign	Het
Skor1	A	G	9: 63,053,397 (GRCm39)	S191P	probably damaging	Het
Slc28a2	T	C	2: 122,288,693 (GRCm39)	F600L	probably benign	Het
Tmem229b-ps	A	G	10: 53,351,250 (GRCm39)		noncoding transcript	Het
Top2b	A	G	14: 16,407,163 (GRCm38)	M678V	possibly damaging	Het
Ttn	T	C	2: 76,617,107 (GRCm39)	N8092S	probably damaging	Het
Ttn	C	T	2: 76,572,033 (GRCm39)	V26287I	probably damaging	Het
Tulp4	T	A	17: 6,263,666 (GRCm39)	I345N	probably damaging	Het
U2surp	C	T	9: 95,384,622 (GRCm39)	V21I	probably benign	Het
Ubr5	T	C	15: 38,018,564 (GRCm39)	T859A	possibly damaging	Het
Ubr5	T	C	15: 38,018,558 (GRCm39)	K861E	probably damaging	Het
Unc13d	A	G	11: 115,959,628 (GRCm39)	V617A	possibly damaging	Het
Vmn2r10	T	C	5: 109,151,341 (GRCm39)	Y91C	probably damaging	Het
Vmn2r120	T	A	17: 57,816,385 (GRCm39)	I657F	probably benign	Het
Wwc2	T	C	8: 48,302,418 (GRCm39)	R931G	unknown	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
IGL03137:Hsf1	APN	15	76,380,649 (GRCm39)	splice site	probably benign
R0350:Hsf1	UTSW	15	76,384,679 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16