Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Hsf4'

378295

Institutional Source

Beutler Lab

Gene Symbol

Hsf4

Ensembl Gene

ENSMUSG00000033249

Gene Name

heat shock transcription factor 4

Synonyms

ldis1

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4917 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

105996433-106002477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105999367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 235 (E235G)

Ref Sequence

ENSEMBL: ENSMUSP00000126278 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000036127] [ENSMUST00000036221] [ENSMUST00000126923] [ENSMUST00000163734] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000174837] [ENSMUST00000173859] [ENSMUST00000173640]

AlphaFold

Q9R0L1

Predicted Effect

probably benign
Transcript: ENSMUST00000014920

SMART Domains

Protein: ENSMUSP00000014920
Gene: ENSMUSG00000014776

Domain	Start	End	E-Value	Type
CARD	4	92	2.1e-27	SMART
low complexity region	149	161	N/A	INTRINSIC
low complexity region	173	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036127
AA Change: E295G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: E295G

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	383	8e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000036221

SMART Domains

Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313

Domain	Start	End	E-Value	Type
FBOX	8	48	2.72e-6	SMART
low complexity region	102	113	N/A	INTRINSIC
low complexity region	252	263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126923

SMART Domains

Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313

Domain	Start	End	E-Value	Type
FBOX	8	48	2.72e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163734
AA Change: E235G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: E235G

Domain	Start	End	E-Value	Type
HSF	9	60	1.43e-1	SMART
Blast:HSF	99	323	2e-88	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172525

SMART Domains

Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	243	3e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173102

Predicted Effect

probably benign
Transcript: ENSMUST00000174837

SMART Domains

Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	290	3e-50	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173859

SMART Domains

Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	353	1e-46	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173640

SMART Domains

Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249

Domain	Start	End	E-Value	Type
HSF	16	120	1.74e-62	SMART
Blast:HSF	159	284	1e-50	BLAST

Meta Mutation Damage Score

0.1737

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display abnormal lens morphology and cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,658,996 (GRCm39)	V2783I	probably benign	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,029,302 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cds2	A	G	2: 132,140,398 (GRCm39)	T182A	probably damaging	Het
Cfap157	C	T	2: 32,669,965 (GRCm39)	R206H	probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Crybg3	A	G	16: 59,350,782 (GRCm39)	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,354,527 (GRCm39)	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,773,160 (GRCm39)	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Dmtn	G	T	14: 70,843,159 (GRCm39)	P283Q	probably damaging	Het
Dspp	C	A	5: 104,325,789 (GRCm39)	D717E	unknown	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erlec1	A	G	11: 30,884,710 (GRCm39)	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm5958	C	A	14: 100,073,189 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
H2bc13	A	T	13: 21,900,189 (GRCm39)	V42E	probably damaging	Het
Ighv1-83	T	C	12: 115,927,580 (GRCm39)	I57V	probably benign	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,526,653 (GRCm39)	C179*	probably null	Het
Lrig1	A	G	6: 94,586,700 (GRCm39)	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,244,574 (GRCm39)	I11V	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Pcdhb3	A	T	18: 37,435,452 (GRCm39)	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,897,191 (GRCm39)	N754Y	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330 (GRCm39)		probably benign	Het
Poldip3	A	T	15: 83,016,776 (GRCm39)		probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Psmc3	A	G	2: 90,896,317 (GRCm39)		probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,100,027 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rtraf	T	C	14: 19,873,784 (GRCm39)	K5R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Ryr3	T	C	2: 112,661,530 (GRCm39)	H1820R	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Selp	A	C	1: 163,972,475 (GRCm39)	T705P	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,231,203 (GRCm39)		probably null	Het
Slc2a9	C	A	5: 38,574,603 (GRCm39)	L224F	probably benign	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Syne1	C	T	10: 5,007,909 (GRCm39)	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 57,985,808 (GRCm39)	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,945,264 (GRCm39)	M781K	probably damaging	Het
Vps36	T	G	8: 22,708,280 (GRCm39)	M348R	possibly damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het

Other mutations in Hsf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Hsf4	APN	8	106,002,289 (GRCm39)	makesense	probably null
IGL01702:Hsf4	APN	8	105,998,221 (GRCm39)	missense	probably damaging	1.00
IGL02040:Hsf4	APN	8	106,002,299 (GRCm39)	unclassified	probably benign
R0115:Hsf4	UTSW	8	105,999,336 (GRCm39)	critical splice acceptor site	probably null
R0449:Hsf4	UTSW	8	106,002,222 (GRCm39)	missense	probably benign	0.04
R0585:Hsf4	UTSW	8	105,997,663 (GRCm39)	missense	probably damaging	1.00
R1365:Hsf4	UTSW	8	105,997,726 (GRCm39)	missense	probably damaging	0.99
R1401:Hsf4	UTSW	8	106,002,235 (GRCm39)	missense	probably benign
R2276:Hsf4	UTSW	8	105,996,628 (GRCm39)	missense	probably null	0.91
R2278:Hsf4	UTSW	8	105,996,628 (GRCm39)	missense	probably null	0.91
R3848:Hsf4	UTSW	8	105,997,469 (GRCm39)	missense	probably damaging	1.00
R3850:Hsf4	UTSW	8	105,997,469 (GRCm39)	missense	probably damaging	1.00
R4240:Hsf4	UTSW	8	106,001,513 (GRCm39)	missense	possibly damaging	0.58
R4781:Hsf4	UTSW	8	106,001,384 (GRCm39)	critical splice donor site	probably null
R4790:Hsf4	UTSW	8	105,997,237 (GRCm39)	missense	probably damaging	1.00
R4918:Hsf4	UTSW	8	105,999,367 (GRCm39)	missense	probably benign	0.00
R4930:Hsf4	UTSW	8	105,999,330 (GRCm39)	splice site	probably null
R5110:Hsf4	UTSW	8	105,999,427 (GRCm39)	missense	probably benign	0.01
R5189:Hsf4	UTSW	8	105,998,060 (GRCm39)	frame shift	probably null
R6001:Hsf4	UTSW	8	105,999,541 (GRCm39)	missense	possibly damaging	0.70
R6167:Hsf4	UTSW	8	105,997,481 (GRCm39)	missense	probably damaging	1.00
R6802:Hsf4	UTSW	8	106,001,300 (GRCm39)	missense	probably damaging	1.00
R7231:Hsf4	UTSW	8	105,998,779 (GRCm39)	missense	probably damaging	1.00
R8720:Hsf4	UTSW	8	105,996,605 (GRCm39)	missense	probably damaging	1.00
R8856:Hsf4	UTSW	8	105,996,628 (GRCm39)	missense	probably null	0.00
R9168:Hsf4	UTSW	8	105,999,373 (GRCm39)	missense	probably benign	0.32
R9603:Hsf4	UTSW	8	105,999,435 (GRCm39)	missense	probably damaging	0.99
R9782:Hsf4	UTSW	8	105,999,217 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCCATCATCTCTGACATC -3'
(R):5'- TGGTTCAGGCTGTTGTACAC -3'

Sequencing Primer
(F):5'- TGAAGGACACAGGCTTTCTC -3'
(R):5'- CAGGCTGTTGTACACTCCTGG -3'

Posted On

2016-04-15