Mutagenetix > Incidental Mutation

Incidental Mutation 'R4781:Hsf4'

366503

Institutional Source

Beutler Lab

Gene Symbol

Hsf4

Ensembl Gene

ENSMUSG00000033249

Gene Name

heat shock transcription factor 4

Synonyms

ldis1

MMRRC Submission

042415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105996433-106002477 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 106001384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134477 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249

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

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249

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 benign
Transcript: ENSMUST00000173102

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

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: 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

Meta Mutation Damage Score

0.9592

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (74/74)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,271,076 (GRCm39)	I157N	probably damaging	Het
Adgrl3	T	C	5: 81,908,571 (GRCm39)	Y1165H	probably damaging	Het
Adra2a	A	G	19: 54,034,926 (GRCm39)	D94G	probably damaging	Het
Akr1c20	T	A	13: 4,558,174 (GRCm39)	K197*	probably null	Het
Ankrd65	C	T	4: 155,877,493 (GRCm39)	H335Y	possibly damaging	Het
Axin2	T	A	11: 108,834,682 (GRCm39)	L636Q	probably damaging	Het
Camk1g	G	T	1: 193,038,652 (GRCm39)	T90N	probably benign	Het
Cd177	C	A	7: 24,450,051 (GRCm39)	C528F	probably damaging	Het
Cntnap5a	A	T	1: 116,339,931 (GRCm39)	D730V	possibly damaging	Het
Crtap	T	C	9: 114,215,304 (GRCm39)	D195G	probably benign	Het
Csn1s2b	A	G	5: 87,966,952 (GRCm39)	S74G	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dnah7a	A	G	1: 53,464,367 (GRCm39)	F3675L	probably benign	Het
Dram2	T	A	3: 106,478,992 (GRCm39)	W195R	probably damaging	Het
E130308A19Rik	C	T	4: 59,691,057 (GRCm39)	P297L	probably benign	Het
Eif3i	T	C	4: 129,489,066 (GRCm39)	S83G	probably benign	Het
Gabra1	G	A	11: 42,024,488 (GRCm39)	P396S	probably damaging	Het
Gipr	T	A	7: 18,891,300 (GRCm39)	Y459F	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm6981	T	C	9: 51,914,056 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,511,905 (GRCm39)	D180G	probably damaging	Het
Hectd4	T	G	5: 121,444,170 (GRCm39)		probably null	Het
Hhat	T	C	1: 192,369,287 (GRCm39)		probably benign	Het
Hoxa6	A	G	6: 52,183,400 (GRCm39)	L215P	possibly damaging	Het
Igf1r	G	A	7: 67,814,947 (GRCm39)	A283T	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,476 (GRCm39)	S25P	probably damaging	Het
Inpp5a	C	T	7: 139,057,921 (GRCm39)	T43I	probably benign	Het
Kmt2c	T	A	5: 25,648,823 (GRCm39)	E82V	probably damaging	Het
Lrrc31	A	G	3: 30,741,526 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,844,396 (GRCm39)		probably null	Het
Mefv	G	A	16: 3,533,198 (GRCm39)	P358S	probably benign	Het
Mrgpra9	A	G	7: 46,884,795 (GRCm39)	F291L	possibly damaging	Het
Mtmr3	A	G	11: 4,438,435 (GRCm39)	L673P	probably benign	Het
Muc19	T	C	15: 91,787,360 (GRCm39)		noncoding transcript	Het
Myo5b	A	T	18: 74,877,752 (GRCm39)	T1584S	possibly damaging	Het
Or1x6	A	T	11: 50,939,307 (GRCm39)	R124S	probably damaging	Het
Or4z4	T	C	19: 12,076,731 (GRCm39)	T91A	probably benign	Het
Palld	G	T	8: 62,330,062 (GRCm39)	R272S	probably benign	Het
Pcnx3	T	A	19: 5,737,158 (GRCm39)	N144Y	probably damaging	Het
Prf1	A	G	10: 61,136,203 (GRCm39)	K160E	probably damaging	Het
Rasgrp1	G	A	2: 117,122,190 (GRCm39)	A400V	probably benign	Het
Rnf150	A	G	8: 83,590,781 (GRCm39)	Y48C	probably damaging	Het
Rpl11	G	T	4: 135,777,599 (GRCm39)	Q170K	probably benign	Het
Scin	G	A	12: 40,131,763 (GRCm39)	A257V	possibly damaging	Het
Scn7a	C	A	2: 66,534,104 (GRCm39)	A524S	possibly damaging	Het
Sim1	T	C	10: 50,859,881 (GRCm39)	L581S	probably benign	Het
Skor1	T	C	9: 63,051,741 (GRCm39)	T715A	probably benign	Het
Slc22a26	A	G	19: 7,767,500 (GRCm39)	V301A	probably benign	Het
Sorcs1	T	C	19: 50,171,119 (GRCm39)	Y923C	probably damaging	Het
Src	T	A	2: 157,309,405 (GRCm39)	M304K	possibly damaging	Het
Srgap3	A	T	6: 112,734,386 (GRCm39)		probably benign	Het
Stard3	G	A	11: 98,263,160 (GRCm39)	E72K	possibly damaging	Het
Svep1	T	A	4: 58,070,340 (GRCm39)	N2482I	probably damaging	Het
Tbc1d23	T	C	16: 57,038,778 (GRCm39)	K20R	possibly damaging	Het
Tcstv4	A	C	13: 120,769,698 (GRCm39)	K6T	possibly damaging	Het
Tfip11	G	A	5: 112,481,265 (GRCm39)	E414K	probably damaging	Het
Tinag	G	T	9: 76,904,232 (GRCm39)	T397K	possibly damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Trmt10b	T	A	4: 45,305,817 (GRCm39)	I164N	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ube2u	A	T	4: 100,343,855 (GRCm39)	T85S	probably benign	Het
Ulk4	T	C	9: 120,932,642 (GRCm39)	D1066G	probably benign	Het
Vmn2r72	T	A	7: 85,387,069 (GRCm39)	I832F	probably benign	Het
Yipf1	A	C	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zfp40	T	A	17: 23,394,629 (GRCm39)	R653W	probably damaging	Het
Zxdc	A	G	6: 90,349,535 (GRCm39)	T308A	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
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'- TCGGATGATACACGTTCCTTAGG -3'
(R):5'- AATCCCATGAAGCGGCTGAG -3'

Sequencing Primer
(F):5'- CACGTTCCTTAGGAGCTAATAGTAGG -3'
(R):5'- TTCAGCCGTGAACCCAAGG -3'

Posted On

2015-12-21