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

57362481-57389231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57380739 bp (GRCm39)

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: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	probably damaging	Het

Other mutations in Hsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Hsf2	APN	10	57,388,124 (GRCm39)	missense	probably benign	0.00
IGL00965:Hsf2	APN	10	57,388,196 (GRCm39)	missense	probably damaging	1.00
IGL01338:Hsf2	APN	10	57,377,475 (GRCm39)	missense	probably damaging	1.00
IGL01518:Hsf2	APN	10	57,388,230 (GRCm39)	missense	probably damaging	1.00
IGL01721:Hsf2	APN	10	57,372,277 (GRCm39)	missense	probably benign	0.13
IGL02219:Hsf2	APN	10	57,372,370 (GRCm39)	missense	probably damaging	1.00
IGL03493:Hsf2	APN	10	57,381,462 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Hsf2	UTSW	10	57,381,442 (GRCm39)	missense	probably damaging	1.00
R0270:Hsf2	UTSW	10	57,378,735 (GRCm39)	missense	probably benign	0.28
R1774:Hsf2	UTSW	10	57,388,242 (GRCm39)	missense	probably damaging	1.00
R2406:Hsf2	UTSW	10	57,373,642 (GRCm39)	missense	probably damaging	0.96
R3410:Hsf2	UTSW	10	57,381,378 (GRCm39)	missense	probably damaging	1.00
R4829:Hsf2	UTSW	10	57,372,266 (GRCm39)	missense	probably damaging	0.96
R4958:Hsf2	UTSW	10	57,377,467 (GRCm39)	missense	probably damaging	0.99
R5154:Hsf2	UTSW	10	57,380,808 (GRCm39)	missense	probably benign
R5237:Hsf2	UTSW	10	57,382,317 (GRCm39)	missense	probably benign	0.16
R5903:Hsf2	UTSW	10	57,380,819 (GRCm39)	missense	probably benign
R6125:Hsf2	UTSW	10	57,388,101 (GRCm39)	missense	probably benign
R6126:Hsf2	UTSW	10	57,372,013 (GRCm39)	missense	probably damaging	1.00
R6280:Hsf2	UTSW	10	57,387,591 (GRCm39)	missense	probably benign	0.03
R6309:Hsf2	UTSW	10	57,362,676 (GRCm39)	start gained	probably benign
R6966:Hsf2	UTSW	10	57,372,080 (GRCm39)	missense	probably damaging	1.00
R7088:Hsf2	UTSW	10	57,388,188 (GRCm39)	missense	probably damaging	1.00
R7182:Hsf2	UTSW	10	57,381,272 (GRCm39)	missense	possibly damaging	0.87
R7511:Hsf2	UTSW	10	57,380,653 (GRCm39)	missense	probably benign	0.00
R7743:Hsf2	UTSW	10	57,387,431 (GRCm39)	splice site	probably null
R8176:Hsf2	UTSW	10	57,381,290 (GRCm39)	nonsense	probably null
R8301:Hsf2	UTSW	10	57,381,442 (GRCm39)	missense	probably damaging	1.00
R8368:Hsf2	UTSW	10	57,388,241 (GRCm39)	missense	probably damaging	1.00
R8682:Hsf2	UTSW	10	57,381,267 (GRCm39)	missense	possibly damaging	0.94
R9506:Hsf2	UTSW	10	57,381,241 (GRCm39)	critical splice acceptor site	probably null
R9520:Hsf2	UTSW	10	57,371,996 (GRCm39)	missense	probably damaging	0.99
Z1088:Hsf2	UTSW	10	57,372,264 (GRCm39)	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