Mutagenetix > Incidental Mutation

Incidental Mutation 'R7170:Hsf1'

558218

Institutional Source

Beutler Lab

Gene Symbol

Hsf1

Ensembl Gene

ENSMUSG00000022556

Gene Name

heat shock factor 1

Synonyms

heat shock transcription factor 1

MMRRC Submission

045332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76361562-76385355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76384221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 402 (G402C)

Ref Sequence

ENSEMBL: ENSMUSP00000072617 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000072838
AA Change: G402C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
AA Change: G402C

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

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably damaging
Transcript: ENSMUST00000226872
AA Change: G430C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227478
AA Change: G402C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228371
AA Change: G430C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably damaging
Transcript: ENSMUST00000229363
AA Change: G402C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,836,654 (GRCm39)	T1214A	probably benign	Het
Acte1	T	C	7: 143,450,102 (GRCm39)	S285P	probably damaging	Het
Adgrf5	G	A	17: 43,757,029 (GRCm39)	V708M	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ankrd7	T	A	6: 18,868,389 (GRCm39)	Y170*	probably null	Het
Aplp2	T	C	9: 31,081,739 (GRCm39)	D236G	probably benign	Het
Apoa5	T	C	9: 46,181,437 (GRCm39)	M171T	probably benign	Het
Bcas3	T	C	11: 85,386,744 (GRCm39)	V393A	probably damaging	Het
Ccdc47	T	C	11: 106,093,304 (GRCm39)	N370S	probably benign	Het
Cfap77	A	T	2: 28,875,854 (GRCm39)	Y85*	probably null	Het
Col4a3	G	A	1: 82,693,630 (GRCm39)		probably null	Het
Crnn	T	A	3: 93,056,020 (GRCm39)	S269T	possibly damaging	Het
Crocc2	G	A	1: 93,121,704 (GRCm39)	A618T	possibly damaging	Het
D030056L22Rik	A	G	19: 18,690,737 (GRCm39)	K17R	possibly damaging	Het
Emx1	G	A	6: 85,164,983 (GRCm39)	G20D	probably benign	Het
Fabp3	A	G	4: 130,207,763 (GRCm39)	D88G	probably benign	Het
Fam124a	A	C	14: 62,824,629 (GRCm39)	D41A	probably damaging	Het
Fanca	T	C	8: 123,997,945 (GRCm39)	E1247G	probably damaging	Het
Fat3	T	C	9: 15,917,870 (GRCm39)	R1518G	probably damaging	Het
Fgf12	T	C	16: 28,263,931 (GRCm39)	I5V	probably benign	Het
Fscn2	C	A	11: 120,253,335 (GRCm39)	N267K	probably damaging	Het
Ftdc1	G	T	16: 58,436,091 (GRCm39)	C77*	probably null	Het
Fubp3	A	G	2: 31,488,632 (GRCm39)	T163A	probably benign	Het
Gask1a	G	T	9: 121,807,301 (GRCm39)	A482S	probably damaging	Het
Gne	A	G	4: 44,040,361 (GRCm39)	L601P	possibly damaging	Het
Gphn	T	C	12: 78,730,663 (GRCm39)	V766A	possibly damaging	Het
Ift81	A	T	5: 122,693,596 (GRCm39)	Y604*	probably null	Het
Iqgap3	T	A	3: 88,009,370 (GRCm39)	I768N	probably damaging	Het
Kazald1	A	T	19: 45,066,855 (GRCm39)	D218V	probably benign	Het
Kmt2a	T	C	9: 44,722,018 (GRCm39)	N3776D	unknown	Het
Ktn1	T	C	14: 47,943,867 (GRCm39)	L872S	probably damaging	Het
Lama3	T	G	18: 12,537,133 (GRCm39)	F259L	probably benign	Het
Mfsd6	A	G	1: 52,701,547 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,950,694 (GRCm39)		probably null	Het
Mob3b	A	G	4: 35,083,839 (GRCm39)	Y117H	probably damaging	Het
Mrpl2	G	A	17: 46,959,181 (GRCm39)	G95D	probably damaging	Het
Mstn	A	T	1: 53,105,554 (GRCm39)	I299F	probably damaging	Het
Mta3	C	T	17: 84,022,091 (GRCm39)	R49W	probably damaging	Het
Mylk3	A	G	8: 86,077,114 (GRCm39)	F574L	probably damaging	Het
Naca	T	A	10: 127,875,990 (GRCm39)	S341T	unknown	Het
Ncoa1	T	C	12: 4,299,722 (GRCm39)	D1401G	probably benign	Het
Nedd4	T	A	9: 72,577,381 (GRCm39)	Y69N	probably benign	Het
Nin	T	C	12: 70,091,013 (GRCm39)	T801A		Het
Nsd1	T	A	13: 55,409,439 (GRCm39)	L1336*	probably null	Het
Nudt16l2	C	A	9: 105,020,600 (GRCm39)		probably null	Het
Oprk1	G	A	1: 5,672,619 (GRCm39)	R252H	probably damaging	Het
Or4c10b	A	T	2: 89,711,397 (GRCm39)	T76S	possibly damaging	Het
Or4c10b	A	G	2: 89,711,185 (GRCm39)	N5S	probably benign	Het
Or5w15	C	T	2: 87,568,056 (GRCm39)	G204D	probably damaging	Het
Pcdhga11	T	C	18: 37,889,717 (GRCm39)	F242L	probably damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pold1	T	C	7: 44,191,572 (GRCm39)	H138R	possibly damaging	Het
Ptprd	A	T	4: 75,990,199 (GRCm39)	D504E	probably benign	Het
Rabgap1l	A	G	1: 160,472,935 (GRCm39)	V501A	probably damaging	Het
Rimklb	T	C	6: 122,429,697 (GRCm39)	N233S	probably benign	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rora	T	A	9: 69,280,472 (GRCm39)	C348*	probably null	Het
Sdhaf3	T	C	6: 6,956,043 (GRCm39)	V6A	probably benign	Het
Serpina3m	T	A	12: 104,355,777 (GRCm39)	L148Q	probably damaging	Het
Sik1	T	C	17: 32,067,746 (GRCm39)	D443G	possibly damaging	Het
Sim2	A	G	16: 93,923,559 (GRCm39)	T366A	probably benign	Het
Slc32a1	T	C	2: 158,453,243 (GRCm39)	F28L	probably damaging	Het
Sorbs1	A	T	19: 40,314,573 (GRCm39)	Y746*	probably null	Het
Speer4b	T	A	5: 27,703,821 (GRCm39)	N106I	possibly damaging	Het
Sphkap	A	G	1: 83,243,706 (GRCm39)	S1269P	probably damaging	Het
Tcf4	T	C	18: 69,766,649 (GRCm39)	V205A	probably damaging	Het
Thsd7a	C	T	6: 12,352,090 (GRCm39)	R1035H		Het
Tmprss11c	A	T	5: 86,385,478 (GRCm39)		probably null	Het
Trim50	A	G	5: 135,396,365 (GRCm39)	T438A	probably benign	Het
Ttc21a	C	T	9: 119,774,607 (GRCm39)	P287L	probably damaging	Het
Ttc41	C	T	10: 86,549,367 (GRCm39)	S187L	probably benign	Het
Ttll3	C	T	6: 113,390,839 (GRCm39)	P807L	probably benign	Het
Ttn	A	C	2: 76,597,696 (GRCm39)	V19739G	probably benign	Het
Usp15	C	A	10: 123,007,100 (GRCm39)	C127F	probably damaging	Het
Vmn2r100	G	T	17: 19,752,233 (GRCm39)	A822S	probably benign	Het
Zan	A	T	5: 137,461,756 (GRCm39)	V1141D	unknown	Het
Zfp457	A	T	13: 67,442,241 (GRCm39)	C111*	probably null	Het
Zfp758	C	T	17: 22,594,116 (GRCm39)	Q201*	probably null	Het
Zkscan2	T	C	7: 123,099,030 (GRCm39)	E54G	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
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
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'- GGCTATGCAGAAGGACCTTG -3'
(R):5'- AACACAGTGAGGGTTGTTGATG -3'

Sequencing Primer
(F):5'- CTATGCAGAAGGACCTTGCTTGG -3'
(R):5'- GGTTGTTGATGGCCCCCTC -3'

Posted On

2019-06-26