Mutagenetix > Incidental Mutations

Incidental Mutation 'R7950:Hsf1'

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649519

Institutional Source

Beutler Lab

Gene Symbol

Hsf1

Ensembl Gene

ENSMUSG00000022556

Gene Name

heat shock factor 1

Synonyms

heat shock transcription factor 1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7950 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76477422-76501913 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76498193 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 255 (S255P)

Ref Sequence

ENSEMBL: ENSMUSP00000072617 (fasta)

Gene Model

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

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: S255P

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

SMART Domains

Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
AA Change: S255P

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: ENSMUST00000226238

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably benign
Transcript: ENSMUST00000226872
AA Change: S255P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227478
AA Change: S255P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228371
AA Change: S255P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000229363
AA Change: S255P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (47/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	C	T	10: 77,979,767	T31I	probably damaging	Het
Adgrf5	G	A	17: 43,451,157	V1248M	probably damaging	Het
Alb	T	C	5: 90,472,464	S478P	probably damaging	Het
Arhgap17	A	G	7: 123,286,816	S698P	probably benign	Het
Arhgef5	A	G	6: 43,273,925	T537A	possibly damaging	Het
Arl6	A	T	16: 59,618,731		probably null	Het
Atp13a4	A	T	16: 29,449,917	W540R		Het
Birc6	A	T	17: 74,593,100	D1091V	probably damaging	Het
Bnc1	A	G	7: 81,973,502	V659A	probably benign	Het
C130074G19Rik	T	C	1: 184,874,374		probably null	Het
C1ql4	T	A	15: 99,084,812	H220L	probably benign	Het
Cacna1s	A	G	1: 136,100,625	N1147S	probably benign	Het
Cc2d2a	T	C	5: 43,695,296		probably null	Het
Ccdc36	T	C	9: 108,405,671	T273A	probably benign	Het
Ccl1	T	A	11: 82,179,693	I18L	probably benign	Het
Ecel1	A	T	1: 87,148,269	Y729N	probably damaging	Het
Epha4	T	A	1: 77,507,196	I59F	probably damaging	Het
Filip1l	A	G	16: 57,569,711	K221E	probably damaging	Het
Flnc	A	G	6: 29,456,382	E2193G	possibly damaging	Het
Galnt10	C	G	11: 57,783,723	P513A	probably damaging	Het
Gm5624	A	G	14: 44,560,733	Y139H		Het
Golgb1	A	C	16: 36,915,424	I1719L	probably benign	Het
Ighv2-2	T	C	12: 113,588,294	D108G	probably damaging	Het
Kbtbd3	C	T	9: 4,316,878	Q10*	probably null	Het
Kcnh2	C	T	5: 24,333,036	V110M	probably benign	Het
Magi3	A	C	3: 104,016,689	L1112W	probably damaging	Het
Malrd1	T	A	2: 16,128,068	D1933E	unknown	Het
Mki67	G	A	7: 135,699,724	R1194*	probably null	Het
Nap1l1	T	C	10: 111,492,908	Y233H	probably damaging	Het
Napsa	A	G	7: 44,585,334	I298V	probably benign	Het
Nkx6-1	A	T	5: 101,663,599	S212R	probably damaging	Het
Nlrc4	A	T	17: 74,445,615	I591N	probably damaging	Het
Olfr1468-ps1	T	C	19: 13,375,067	I35T	possibly damaging	Het
Orc2	T	C	1: 58,467,668	D503G	possibly damaging	Het
Osbp	T	A	19: 11,978,248	S343T	probably benign	Het
Pcdha6	T	G	18: 36,969,426	D557E	probably damaging	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,113,437		probably benign	Het
Ppdpf	A	G	2: 181,187,857	Y35C	probably benign	Het
Scrn2	T	A	11: 97,030,929	L75Q	probably damaging	Het
Scube3	G	A	17: 28,171,226	V955I	probably benign	Het
Slc1a1	T	C	19: 28,911,761	V478A	probably benign	Het
Slc4a4	A	G	5: 89,058,278		probably null	Het
Srrm2	T	C	17: 23,808,110	L96P	unknown	Het
Strn	A	T	17: 78,670,423	L175Q		Het

Other mutations in Hsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Hsf1	APN	15	76498203	missense	probably benign	0.01
IGL01668:Hsf1	APN	15	76496962	critical splice donor site	probably null
IGL01724:Hsf1	APN	15	76496837	missense	possibly damaging	0.83
IGL02111:Hsf1	APN	15	76496081	splice site	probably benign
IGL02503:Hsf1	APN	15	76498670	missense	probably benign	0.03
IGL03137:Hsf1	APN	15	76496449	splice site	probably benign
R0350:Hsf1	UTSW	15	76500479	missense	probably benign	0.00
R6906:Hsf1	UTSW	15	76477719	critical splice donor site	probably null
R7170:Hsf1	UTSW	15	76500021	missense	probably damaging	1.00
R7749:Hsf1	UTSW	15	76499187	missense	probably benign	0.38
R8050:Hsf1	UTSW	15	76498281	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGAGTGACAGCAACTCAGCAC -3'
(R):5'- TTTCAGCTCTGCCCAAGGTC -3'

Sequencing Primer
(F):5'- AAGTATGGTCGACAGTACTCCCTG -3'
(R):5'- TCTGCCCAAGGTCATAAAGGCTG -3'

Posted On

2020-09-15