Mutagenetix > Incidental Mutation

Incidental Mutation 'R2278:Hsf4'

242907

Institutional Source

Beutler Lab

Gene Symbol

Hsf4

Ensembl Gene

ENSMUSG00000033249

Gene Name

heat shock transcription factor 4

Synonyms

ldis1

MMRRC Submission

040277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2278 (G1)

Quality Score

107

Status

Not validated

Chromosome

Chromosomal Location

105996433-106002477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105996628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 18 (D18N)

Ref Sequence

ENSEMBL: ENSMUSP00000126278 (fasta)

Gene Model

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

AlphaFold

Q9R0L1

Predicted Effect

probably null
Transcript: ENSMUST00000036127

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249

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

Predicted Effect

probably null
Transcript: ENSMUST00000036127

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249

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 null
Transcript: ENSMUST00000163734
AA Change: D18N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: D18N

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

Predicted Effect

probably null
Transcript: ENSMUST00000163734
AA Change: D18N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: D18N

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

Predicted Effect

probably null
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 null
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 null
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 null
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

silent
Transcript: ENSMUST00000173102

Predicted Effect

silent
Transcript: ENSMUST00000173102

Predicted Effect

silent
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

Predicted Effect

silent
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

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,201,400 (GRCm39)	D251G	probably damaging	Het
Aqp3	T	C	4: 41,093,836 (GRCm39)	D219G	probably damaging	Het
Arhgef15	C	A	11: 68,842,517 (GRCm39)	W404C	probably damaging	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bmp5	T	A	9: 75,683,830 (GRCm39)	N152K	possibly damaging	Het
Bpifb2	C	T	2: 153,720,399 (GRCm39)	Q53*	probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Clca3a1	A	G	3: 144,463,785 (GRCm39)	V164A	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gcn1	T	C	5: 115,749,234 (GRCm39)	I1922T	probably damaging	Het
Gnpat	A	G	8: 125,603,659 (GRCm39)	D179G	probably benign	Het
Hook1	A	G	4: 95,886,957 (GRCm39)	Q188R	probably benign	Het
Ifi44	T	C	3: 151,438,025 (GRCm39)	N421D	probably benign	Het
Igdcc4	C	T	9: 65,038,025 (GRCm39)	T801I	probably damaging	Het
Itgad	T	C	7: 127,804,342 (GRCm39)	S107P	possibly damaging	Het
Kank2	C	A	9: 21,681,080 (GRCm39)	M816I	probably damaging	Het
Kcnk18	T	C	19: 59,223,926 (GRCm39)	I357T	probably damaging	Het
Kcnma1	T	A	14: 23,593,151 (GRCm39)	R120*	probably null	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lypla1	T	G	1: 4,911,321 (GRCm39)		probably null	Het
Mknk1	C	T	4: 115,732,690 (GRCm39)	A306V	probably damaging	Het
Ncoa6	A	T	2: 155,249,570 (GRCm39)	S1245T	possibly damaging	Het
Npas3	T	A	12: 53,687,285 (GRCm39)	V122E	possibly damaging	Het
Nrxn2	G	C	19: 6,531,883 (GRCm39)	Q789H	probably damaging	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Or3a1	T	C	11: 74,225,991 (GRCm39)	E22G	probably benign	Het
Or5p69	T	C	7: 107,967,288 (GRCm39)	V197A	probably benign	Het
Or5w12	A	G	2: 87,502,289 (GRCm39)	C141R	possibly damaging	Het
Otog	G	A	7: 45,949,468 (GRCm39)	V2369M	probably damaging	Het
Pfkp	T	C	13: 6,669,245 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prune2	A	G	19: 17,095,919 (GRCm39)	I474M	possibly damaging	Het
Psg22	C	A	7: 18,460,762 (GRCm39)	Q464K	possibly damaging	Het
Rp1	C	T	1: 4,418,250 (GRCm39)	S954N	possibly damaging	Het
Rps27l	T	A	9: 66,854,208 (GRCm39)	D34E	probably benign	Het
Sae1	A	C	7: 16,104,291 (GRCm39)	L106R	probably damaging	Het
Siglec1	T	A	2: 130,913,257 (GRCm39)	Q1553L	probably benign	Het
Slc11a2	A	G	15: 100,307,962 (GRCm39)		probably null	Het
Slc14a2	A	T	18: 78,203,159 (GRCm39)	M556K	probably benign	Het
Slk	T	G	19: 47,608,188 (GRCm39)	I380M	probably damaging	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tiam2	G	A	17: 3,477,495 (GRCm39)	V573M	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tmem255b	C	T	8: 13,501,081 (GRCm39)	A106V	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Vps13c	A	G	9: 67,846,354 (GRCm39)	M2141V	probably benign	Het
Vwa5a	T	C	9: 38,634,503 (GRCm39)	Y143H	probably damaging	Het
Zfp280d	T	A	9: 72,246,055 (GRCm39)	C707*	probably null	Het
Zfp668	A	T	7: 127,465,998 (GRCm39)	N395K	probably benign	Het
Znhit6	G	T	3: 145,281,991 (GRCm39)		probably benign	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
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
R4917:Hsf4	UTSW	8	105,999,367 (GRCm39)	missense	probably benign	0.00
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'- CTTTCGCGGCTTTGACAAG -3'
(R):5'- TGAGAATTACCCTGGTCTCTGTG -3'

Sequencing Primer
(F):5'- TTTGACAAGCCCGCAGC -3'
(R):5'- TGTGGGCTCTAGGACCCTTAC -3'

Posted On

2014-10-16