Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Hsf2'

541376

Institutional Source

Beutler Lab

Gene Symbol

Hsf2

Ensembl Gene

ENSMUSG00000019878

Gene Name

heat shock factor 2

Synonyms

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57486385-57513135 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57504643 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 191 (I191N)

Ref Sequence

ENSEMBL: ENSMUSP00000152013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079833] [ENSMUST00000220042] [ENSMUST00000220353]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079833
AA Change: I248N

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

SMART Domains

Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: I248N

Domain	Start	End	E-Value	Type
HSF	6	110	1.99e-62	SMART
coiled coil region	133	176	N/A	INTRINSIC
Pfam:Vert_HS_TF	230	392	1.5e-39	PFAM
Pfam:Vert_HS_TF	391	494	2.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220042
AA Change: I191N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,830,637 (GRCm38)		probably null	Het
Alox5	A	C	6: 116,420,280 (GRCm38)	Y314*	probably null	Het
Ap4e1	T	C	2: 127,064,951 (GRCm38)	S1044P	probably benign	Het
Ash2l	A	G	8: 25,822,768 (GRCm38)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 141,067,232 (GRCm38)	T326A	probably benign	Het
Ccm2	T	A	11: 6,594,239 (GRCm38)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,748,559 (GRCm38)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,599,496 (GRCm38)	L849S	probably damaging	Het
Ctrb1	A	G	8: 111,686,664 (GRCm38)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,168,945 (GRCm38)		probably benign	Het
Dnah17	A	G	11: 118,066,432 (GRCm38)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,226,043 (GRCm38)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,263,676 (GRCm38)		probably benign	Het
Furin	G	T	7: 80,396,964 (GRCm38)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,200,587 (GRCm38)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,168,490 (GRCm38)	D204E	possibly damaging	Het
Hspa12a	T	C	19: 58,799,692 (GRCm38)	D566G	probably benign	Het
Igf1	G	C	10: 87,864,860 (GRCm38)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm38)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,782,507 (GRCm38)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,608,488 (GRCm38)	Y168F	probably benign	Het
Marf1	A	G	16: 14,138,520 (GRCm38)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,891,952 (GRCm38)	S428T	probably benign	Het
Myo1d	T	C	11: 80,674,957 (GRCm38)	I347M	probably benign	Het
Myo9b	A	G	8: 71,290,819 (GRCm38)	I175V	probably damaging	Het
Naip5	A	T	13: 100,223,414 (GRCm38)	V438E	probably damaging	Het
Nup205	T	A	6: 35,208,109 (GRCm38)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,238,110 (GRCm38)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,786,382 (GRCm38)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,645,989 (GRCm38)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,173,394 (GRCm38)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,553,897 (GRCm38)	I791M	probably benign	Het
Pik3c2b	T	G	1: 133,066,303 (GRCm38)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 95,068,247 (GRCm38)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,817,853 (GRCm38)	L1294*	probably null	Het
Pprc1	T	C	19: 46,064,433 (GRCm38)	S797P	probably damaging	Het
Prob1	A	G	18: 35,654,268 (GRCm38)	V311A	probably benign	Het
Prune2	C	A	19: 17,000,021 (GRCm38)	T40K	probably damaging	Het
Rif1	T	G	2: 52,112,691 (GRCm38)	D2052E	probably benign	Het
Sall1	A	G	8: 89,032,891 (GRCm38)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,427,946 (GRCm38)		probably null	Het
Sidt2	A	T	9: 45,952,850 (GRCm38)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,622,096 (GRCm38)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,498,147 (GRCm38)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,158,621 (GRCm38)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,886,340 (GRCm38)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,801,893 (GRCm38)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,627,770 (GRCm38)	T87I	probably benign	Het
Tcstv6	A	G	13: 119,846,130 (GRCm38)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,652,275 (GRCm38)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,554,724 (GRCm38)		probably null	Het
Tmppe	G	A	9: 114,405,523 (GRCm38)	V297I	probably benign	Het
Ung	G	T	5: 114,131,337 (GRCm38)	A37S	probably benign	Het
Vdac1	T	C	11: 52,386,373 (GRCm38)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,921,367 (GRCm38)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,956,452 (GRCm38)	I27T	probably benign	Het
Zfp280b	T	A	10: 76,039,688 (GRCm38)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,484,365 (GRCm38)	I329V	probably damaging	Het

Other mutations in Hsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Hsf2	APN	10	57,512,028 (GRCm38)	missense	probably benign	0.00
IGL00965:Hsf2	APN	10	57,512,100 (GRCm38)	missense	probably damaging	1.00
IGL01338:Hsf2	APN	10	57,501,379 (GRCm38)	missense	probably damaging	1.00
IGL01518:Hsf2	APN	10	57,512,134 (GRCm38)	missense	probably damaging	1.00
IGL01721:Hsf2	APN	10	57,496,181 (GRCm38)	missense	probably benign	0.13
IGL02219:Hsf2	APN	10	57,496,274 (GRCm38)	missense	probably damaging	1.00
IGL03493:Hsf2	APN	10	57,505,366 (GRCm38)	missense	probably damaging	1.00
G1Funyon:Hsf2	UTSW	10	57,505,346 (GRCm38)	missense	probably damaging	1.00
R0270:Hsf2	UTSW	10	57,502,639 (GRCm38)	missense	probably benign	0.28
R1774:Hsf2	UTSW	10	57,512,146 (GRCm38)	missense	probably damaging	1.00
R2406:Hsf2	UTSW	10	57,497,546 (GRCm38)	missense	probably damaging	0.96
R3410:Hsf2	UTSW	10	57,505,282 (GRCm38)	missense	probably damaging	1.00
R4829:Hsf2	UTSW	10	57,496,170 (GRCm38)	missense	probably damaging	0.96
R4958:Hsf2	UTSW	10	57,501,371 (GRCm38)	missense	probably damaging	0.99
R5154:Hsf2	UTSW	10	57,504,712 (GRCm38)	missense	probably benign
R5237:Hsf2	UTSW	10	57,506,221 (GRCm38)	missense	probably benign	0.16
R5903:Hsf2	UTSW	10	57,504,723 (GRCm38)	missense	probably benign
R6125:Hsf2	UTSW	10	57,512,005 (GRCm38)	missense	probably benign
R6126:Hsf2	UTSW	10	57,495,917 (GRCm38)	missense	probably damaging	1.00
R6280:Hsf2	UTSW	10	57,511,495 (GRCm38)	missense	probably benign	0.03
R6309:Hsf2	UTSW	10	57,486,580 (GRCm38)	start gained	probably benign
R6966:Hsf2	UTSW	10	57,495,984 (GRCm38)	missense	probably damaging	1.00
R7088:Hsf2	UTSW	10	57,512,092 (GRCm38)	missense	probably damaging	1.00
R7182:Hsf2	UTSW	10	57,505,176 (GRCm38)	missense	possibly damaging	0.87
R7511:Hsf2	UTSW	10	57,504,557 (GRCm38)	missense	probably benign	0.00
R7743:Hsf2	UTSW	10	57,511,335 (GRCm38)	splice site	probably null
R8176:Hsf2	UTSW	10	57,505,194 (GRCm38)	nonsense	probably null
R8301:Hsf2	UTSW	10	57,505,346 (GRCm38)	missense	probably damaging	1.00
R8368:Hsf2	UTSW	10	57,512,145 (GRCm38)	missense	probably damaging	1.00
R8682:Hsf2	UTSW	10	57,505,171 (GRCm38)	missense	possibly damaging	0.94
R9506:Hsf2	UTSW	10	57,505,145 (GRCm38)	critical splice acceptor site	probably null
R9520:Hsf2	UTSW	10	57,495,900 (GRCm38)	missense	probably damaging	0.99
Z1088:Hsf2	UTSW	10	57,496,168 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACACTTTGGGTATGTCATTCATC -3'
(R):5'- GGTAGTTATCTGGGTCAATAATTCC -3'

Sequencing Primer
(F):5'- GACTGAGGACAAGCAGTTTTGTTTAC -3'
(R):5'- TGTGAAAAAGATTAGTACTCCAAACC -3'

Posted On

2018-11-28