Incidental Mutation 'IGL01294:Hsf4'
| ID |
73020 |
| 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)
|
| Stock # |
IGL01294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105996433-106002477 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
G to T
at 106002289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Leucine
at position 417
(*417L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014920]
[ENSMUST00000014981]
[ENSMUST00000036127]
[ENSMUST00000163734]
[ENSMUST00000171788]
[ENSMUST00000172525]
[ENSMUST00000173102]
[ENSMUST00000173859]
[ENSMUST00000174837]
[ENSMUST00000212922]
[ENSMUST00000173640]
|
| AlphaFold |
Q9R0L1 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000036127
AA Change: *493L
|
| SMART Domains |
Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: *493L
| 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
AA Change: *433L
|
| SMART Domains |
Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: *433L
| 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 null
Transcript: ENSMUST00000173859
AA Change: *463L
|
| SMART Domains |
Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: *463L
| 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
AA Change: *417L
|
| SMART Domains |
Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: *417L
| 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: 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
T |
7: 127,836,291 (GRCm39) |
S101T |
probably benign |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arglu1 |
G |
T |
8: 8,733,739 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,391,280 (GRCm39) |
Y436D |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cpne8 |
G |
A |
15: 90,385,648 (GRCm39) |
S460L |
probably damaging |
Het |
| Crat |
G |
A |
2: 30,295,199 (GRCm39) |
A436V |
probably damaging |
Het |
| Dmd |
T |
C |
X: 83,475,604 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
G |
T |
17: 71,581,589 (GRCm39) |
A379E |
probably benign |
Het |
| Ercc2 |
A |
G |
7: 19,124,342 (GRCm39) |
I445V |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,504,854 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
T |
16: 57,392,711 (GRCm39) |
K1100* |
probably null |
Het |
| Gm4353 |
T |
A |
7: 115,683,077 (GRCm39) |
D168V |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,731,594 (GRCm39) |
|
probably benign |
Het |
| Macroh2a1 |
A |
T |
13: 56,222,113 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,421,177 (GRCm39) |
S261P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,742,211 (GRCm39) |
S621P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,232,926 (GRCm39) |
Y934C |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,353,588 (GRCm39) |
S1224P |
probably damaging |
Het |
| Nwd1 |
A |
T |
8: 73,438,373 (GRCm39) |
N1474Y |
probably damaging |
Het |
| Or2ag20 |
T |
C |
7: 106,464,970 (GRCm39) |
L261S |
probably damaging |
Het |
| Ptbp2 |
A |
G |
3: 119,541,461 (GRCm39) |
V192A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,090,657 (GRCm39) |
Y421C |
probably damaging |
Het |
| Sfmbt2 |
T |
A |
2: 10,595,232 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,083,653 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,987,506 (GRCm39) |
M734V |
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,413,019 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,067,114 (GRCm39) |
|
probably benign |
Het |
| Uba6 |
T |
A |
5: 86,297,907 (GRCm39) |
I256L |
possibly damaging |
Het |
| Wnt3 |
A |
T |
11: 103,699,140 (GRCm39) |
H82L |
possibly damaging |
Het |
|
| Other mutations in Hsf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation