Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01702:Hsf4'

104511

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsf4

Ensembl Gene

ENSMUSG00000033249

Gene Name

heat shock transcription factor 4

Synonyms

ldis1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01702

Quality Score

Status

Chromosome

Chromosomal Location

105996433-106002477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105998221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 129 (I129T)

Ref Sequence

ENSEMBL: ENSMUSP00000126278 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000036127
AA Change: I189T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: I189T

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 damaging
Transcript: ENSMUST00000163734
AA Change: I129T

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

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: I129T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172525
AA Change: I189T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
AA Change: I189T

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 damaging
Transcript: ENSMUST00000173640
AA Change: I189T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
AA Change: I189T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173859
AA Change: I189T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: I189T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174837
AA Change: I189T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: I189T

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

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7a	T	C	15: 77,273,886 (GRCm39)		probably null	Het
Asb2	C	T	12: 103,302,164 (GRCm39)	G128E	possibly damaging	Het
Atp11c	A	T	X: 59,315,263 (GRCm39)	S683T	probably damaging	Het
Brinp3	A	G	1: 146,627,735 (GRCm39)		probably benign	Het
Cpeb3	A	T	19: 37,103,782 (GRCm39)	M369K	possibly damaging	Het
Exoc5	A	T	14: 49,253,072 (GRCm39)	C580*	probably null	Het
Gm9956	A	G	10: 56,621,335 (GRCm39)			Het
Gzmk	C	T	13: 113,317,084 (GRCm39)	V32I	probably damaging	Het
Igkv1-115	T	A	6: 68,138,516 (GRCm39)	W40R	probably damaging	Het
Iqub	A	T	6: 24,500,312 (GRCm39)	M314K	probably benign	Het
Krt87	T	C	15: 101,389,099 (GRCm39)	T78A	probably benign	Het
Med28	T	C	5: 45,682,633 (GRCm39)	S100P	probably benign	Het
Prx	G	A	7: 27,219,212 (GRCm39)	V1238I	probably benign	Het
Ptprq	T	C	10: 107,353,727 (GRCm39)	N2263S	probably benign	Het
Rab12	A	G	17: 66,826,384 (GRCm39)	F61S	probably damaging	Het
Serpinb9d	T	C	13: 33,387,006 (GRCm39)	F358S	probably damaging	Het
Slc25a3	A	T	10: 90,953,987 (GRCm39)	Y242N	probably damaging	Het
Smtnl1	T	C	2: 84,649,034 (GRCm39)	I73M	possibly damaging	Het
Tnp1	C	A	1: 73,054,877 (GRCm39)		probably benign	Het
Trim5	T	C	7: 103,928,638 (GRCm39)	E101G	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
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
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

Posted On

2014-01-21