Mutagenetix > Incidental Mutation

Incidental Mutation 'R1401:Hsf4'

160135

Institutional Source

Beutler Lab

Gene Symbol

Hsf4

Ensembl Gene

ENSMUSG00000033249

Gene Name

heat shock transcription factor 4

Synonyms

ldis1

MMRRC Submission

039463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105996433-106002477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106002235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 399 (V399A)

Ref Sequence

ENSEMBL: ENSMUSP00000134477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014920] [ENSMUST00000014981] [ENSMUST00000036127] [ENSMUST00000163734] [ENSMUST00000171788] [ENSMUST00000172525] [ENSMUST00000173102] [ENSMUST00000174837] [ENSMUST00000173859] [ENSMUST00000212922] [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: ENSMUST00000014981

SMART Domains

Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000036127
AA Change: V475A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: V475A

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: ENSMUST00000163734
AA Change: V415A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: V415A

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: ENSMUST00000171788

SMART Domains

Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

Domain	Start	End	E-Value	Type
DUF1704	148	457	1.07e-139	SMART

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
AA Change: V399A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: V399A

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
AA Change: V445A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: V445A

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: ENSMUST00000212922

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abcg1	T	A	17: 31,333,132 (GRCm39)	I625N	possibly damaging	Het
Adam33	C	A	2: 130,893,391 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,528,617 (GRCm39)	I1185N	probably damaging	Het
Afp	A	T	5: 90,649,486 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,501,356 (GRCm39)	V342A	probably benign	Het
Ankrd11	A	T	8: 123,619,789 (GRCm39)	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,640,776 (GRCm39)	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,466,878 (GRCm39)	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,165,013 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,770,327 (GRCm39)	L67P	probably damaging	Het
Bbs7	G	A	3: 36,627,706 (GRCm39)	P694S	probably benign	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
C2	T	C	17: 35,091,457 (GRCm39)	T69A	possibly damaging	Het
C8b	T	G	4: 104,641,679 (GRCm39)	L205R	possibly damaging	Het
Cct4	T	G	11: 22,944,333 (GRCm39)	N72K	probably damaging	Het
Cd300lg	C	A	11: 101,944,981 (GRCm39)	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,875,222 (GRCm39)	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,738,757 (GRCm39)	H268L	probably benign	Het
Chia1	T	A	3: 106,036,255 (GRCm39)	D278E	probably benign	Het
Cntn6	A	G	6: 104,781,359 (GRCm39)	T482A	possibly damaging	Het
Cst13	T	A	2: 148,665,016 (GRCm39)	F4I	probably benign	Het
Ctsc	T	A	7: 87,930,706 (GRCm39)	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,842,508 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,322,712 (GRCm39)		probably null	Het
Dnah5	A	C	15: 28,402,059 (GRCm39)	T3407P	probably damaging	Het
Dock1	T	A	7: 134,735,665 (GRCm39)	Y1344*	probably null	Het
Eif4g3	T	C	4: 137,933,395 (GRCm39)	V1740A	probably damaging	Het
Epb41l5	A	G	1: 119,506,634 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fnbp1l	C	T	3: 122,339,955 (GRCm39)	R499Q	probably damaging	Het
Gm10033	T	C	8: 69,826,022 (GRCm39)		noncoding transcript	Het
Gm12790	A	G	4: 101,825,396 (GRCm39)	L6P	probably benign	Het
Gramd4	A	G	15: 86,009,397 (GRCm39)	D210G	probably damaging	Het
Hectd3	T	C	4: 116,859,466 (GRCm39)	S697P	possibly damaging	Het
Hyal6	T	A	6: 24,743,434 (GRCm39)	C377S	probably damaging	Het
Myb	C	T	10: 21,028,844 (GRCm39)	V85M	probably damaging	Het
Mypn	A	G	10: 62,988,636 (GRCm39)	V463A	probably damaging	Het
Nav1	T	A	1: 135,388,163 (GRCm39)	I1144L	probably benign	Het
Nckap5	A	G	1: 125,942,398 (GRCm39)		probably benign	Het
Nipbl	A	T	15: 8,401,657 (GRCm39)	S30T	probably damaging	Het
Nmt1	T	C	11: 102,948,307 (GRCm39)	F277S	probably damaging	Het
Nploc4	A	C	11: 120,274,115 (GRCm39)		probably benign	Het
Nup54	C	A	5: 92,576,080 (GRCm39)	R137I	probably damaging	Het
Or52n2b	T	C	7: 104,565,963 (GRCm39)	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,804,487 (GRCm39)	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,340,072 (GRCm39)	T763A	probably damaging	Het
Pmepa1	C	T	2: 173,070,368 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,666,518 (GRCm39)	E408G	possibly damaging	Het
Pramel13	G	A	4: 144,121,658 (GRCm39)	T122M	probably benign	Het
Prl8a2	G	A	13: 27,537,979 (GRCm39)	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Shisal2b	A	T	13: 105,000,113 (GRCm39)	C37S	probably damaging	Het
Slc13a1	A	T	6: 24,118,082 (GRCm39)		probably null	Het
Slc17a8	T	A	10: 89,427,076 (GRCm39)	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,510,005 (GRCm39)	E519G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc39a5	G	A	10: 128,233,610 (GRCm39)	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,857,610 (GRCm39)		noncoding transcript	Het
Slco6d1	G	A	1: 98,418,341 (GRCm39)	G509D	probably damaging	Het
Spen	A	G	4: 141,199,132 (GRCm39)	V3142A	probably damaging	Het
Spta1	T	A	1: 174,050,250 (GRCm39)	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,159,124 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,543,328 (GRCm39)		probably benign	Het
Stat4	A	G	1: 52,111,106 (GRCm39)		probably benign	Het
Svbp	T	A	4: 119,053,225 (GRCm39)		probably benign	Het
Tm2d1	A	T	4: 98,258,833 (GRCm39)		probably benign	Het
Trpv1	C	A	11: 73,130,952 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,794,232 (GRCm39)	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,786,125 (GRCm39)	D165V	probably benign	Het
Utrn	C	A	10: 12,524,897 (GRCm39)	M2195I	probably benign	Het
Vmn1r229	G	A	17: 21,034,904 (GRCm39)	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,870,632 (GRCm39)	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,605,570 (GRCm39)		probably benign	Het
Vmn2r27	A	C	6: 124,168,591 (GRCm39)	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,227,859 (GRCm39)	S126C	possibly damaging	Het
Xylb	T	A	9: 119,197,133 (GRCm39)		probably benign	Het
Zfp282	A	T	6: 47,867,108 (GRCm39)	K232*	probably null	Het
Zfp39	C	A	11: 58,781,149 (GRCm39)	V538L	probably benign	Het
Zfp560	T	C	9: 20,263,149 (GRCm39)	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,804,962 (GRCm39)	V433I	probably benign	Het
Zscan5b	A	G	7: 6,233,425 (GRCm39)	E83G	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGTGATGCTACACCCTAACTGAAG -3'
(R):5'- TAGGCACTGGCTCTCCAAGTACACTG -3'

Sequencing Primer
(F):5'- ACCCTAACTGAAGGGGGC -3'
(R):5'- TCTTCCATGAAAGTCCGAGCG -3'

Posted On

2014-03-14