Incidental Mutation 'R6802:Hsf4'
ID |
533383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsf4
|
Ensembl Gene |
ENSMUSG00000033249 |
Gene Name |
heat shock transcription factor 4 |
Synonyms |
ldis1 |
MMRRC Submission |
044915-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6802 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105996433-106002477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106001300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 309
(G309S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014920]
[ENSMUST00000036127]
[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 |
possibly damaging
Transcript: ENSMUST00000036127
AA Change: G369S
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000048904 Gene: ENSMUSG00000033249 AA Change: G369S
Domain | Start | End | E-Value | Type |
HSF
|
16 |
120 |
1.74e-62 |
SMART |
Blast:HSF
|
159 |
383 |
8e-88 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163734
AA Change: G309S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126278 Gene: ENSMUSG00000033249 AA Change: G309S
Domain | Start | End | E-Value | Type |
HSF
|
9 |
60 |
1.43e-1 |
SMART |
Blast:HSF
|
99 |
323 |
2e-88 |
BLAST |
|
Predicted Effect |
silent
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 |
possibly damaging
Transcript: ENSMUST00000173859
AA Change: G339S
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134213 Gene: ENSMUSG00000033249 AA Change: G339S
Domain | Start | End | E-Value | Type |
HSF
|
16 |
120 |
1.74e-62 |
SMART |
Blast:HSF
|
159 |
353 |
1e-46 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174837
AA Change: G293S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134477 Gene: ENSMUSG00000033249 AA Change: G293S
Domain | Start | End | E-Value | Type |
HSF
|
16 |
120 |
1.74e-62 |
SMART |
Blast:HSF
|
159 |
290 |
3e-50 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (54/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
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 |
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 |
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'- ATCTCAGGTCTAGGCTAGGAAG -3'
(R):5'- TTCTCGTCCATGCAGGCTAG -3'
Sequencing Primer
(F):5'- CCTTTAGCACTCAGTGGGTTAAGAC -3'
(R):5'- AGCACCTGGGAAGAGCTC -3'
|
Posted On |
2018-09-12 |