Incidental Mutation 'R8720:Hsf4'
| ID |
670072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf4
|
| Ensembl Gene |
ENSMUSG00000033249 |
| Gene Name |
heat shock transcription factor 4 |
| Synonyms |
ldis1 |
| MMRRC Submission |
068571-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105996433-106002477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 105996605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 34
(D34Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036127]
[ENSMUST00000036221]
[ENSMUST00000126923]
[ENSMUST00000163734]
[ENSMUST00000172525]
[ENSMUST00000173102]
[ENSMUST00000173640]
[ENSMUST00000173859]
[ENSMUST00000174837]
|
| AlphaFold |
Q9R0L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036127
AA Change: D34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
AA Change: D34Y
| 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 benign
Transcript: ENSMUST00000163734
AA Change: R10L
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
AA Change: R10L
| 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: D34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
AA Change: D34Y
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
243 |
3e-36 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173102
AA Change: D34Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173640
AA Change: D34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
AA Change: D34Y
| 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: D34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
AA Change: D34Y
| 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: D34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
AA Change: D34Y
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
290 |
3e-50 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
T |
C |
11: 61,104,305 (GRCm39) |
V64A |
probably benign |
Het |
| Anln |
T |
C |
9: 22,284,573 (GRCm39) |
H379R |
probably benign |
Het |
| Asb2 |
A |
G |
12: 103,291,680 (GRCm39) |
Y416H |
probably damaging |
Het |
| Atp2b4 |
TTCTTC |
TTCTTCGTCTTC |
1: 133,629,465 (GRCm39) |
|
probably benign |
Het |
| Chsy1 |
T |
A |
7: 65,821,088 (GRCm39) |
M441K |
possibly damaging |
Het |
| Cmas |
A |
G |
6: 142,716,929 (GRCm39) |
K274E |
probably damaging |
Het |
| Cmip |
A |
G |
8: 118,138,010 (GRCm39) |
Y75C |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,637,531 (GRCm39) |
|
probably benign |
Het |
| Col3a1 |
A |
G |
1: 45,386,893 (GRCm39) |
Y1368C |
unknown |
Het |
| Cracdl |
A |
G |
1: 37,652,522 (GRCm39) |
F1095S |
possibly damaging |
Het |
| Cspg4 |
C |
T |
9: 56,794,797 (GRCm39) |
T844I |
probably benign |
Het |
| Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
| Ect2 |
A |
T |
3: 27,169,647 (GRCm39) |
N766K |
probably damaging |
Het |
| Fanci |
C |
A |
7: 79,089,425 (GRCm39) |
Q954K |
possibly damaging |
Het |
| Gm30083 |
A |
G |
14: 33,736,895 (GRCm39) |
S21P |
probably benign |
Het |
| Gulo |
C |
T |
14: 66,225,074 (GRCm39) |
E422K |
probably benign |
Het |
| Helq |
A |
G |
5: 100,914,561 (GRCm39) |
V977A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,389,105 (GRCm39) |
D3874G |
probably benign |
Het |
| Il18 |
G |
A |
9: 50,476,684 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,508,599 (GRCm39) |
E209V |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,232,868 (GRCm39) |
L1150Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,691,792 (GRCm39) |
F231L |
probably damaging |
Het |
| Krtap19-4 |
A |
G |
16: 88,681,846 (GRCm39) |
Y37H |
unknown |
Het |
| Lama4 |
A |
T |
10: 38,971,079 (GRCm39) |
D1548V |
probably damaging |
Het |
| Lrig2 |
C |
T |
3: 104,418,998 (GRCm39) |
A4T |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,324,459 (GRCm39) |
I1265F |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,552,896 (GRCm39) |
T4466S |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,204,570 (GRCm39) |
I57V |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,630 (GRCm39) |
Y469N |
probably benign |
Het |
| Nav1 |
G |
A |
1: 135,388,464 (GRCm39) |
R1065C |
unknown |
Het |
| Nps |
C |
T |
7: 134,874,045 (GRCm39) |
R72C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,117,681 (GRCm39) |
V1796I |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,024,667 (GRCm39) |
K451E |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,968 (GRCm39) |
D67E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,243,688 (GRCm39) |
F928I |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,975,196 (GRCm39) |
N486D |
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,089,084 (GRCm39) |
L413P |
probably damaging |
Het |
| Rbm45 |
G |
T |
2: 76,210,711 (GRCm39) |
R414L |
probably damaging |
Het |
| Sap30l |
A |
T |
11: 57,698,875 (GRCm39) |
N116I |
probably damaging |
Het |
| Slc17a5 |
A |
T |
9: 78,485,945 (GRCm39) |
F47I |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,668,852 (GRCm39) |
S527T |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,358,571 (GRCm39) |
D659E |
probably damaging |
Het |
| Sycp3 |
A |
G |
10: 88,298,394 (GRCm39) |
Q40R |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,063,590 (GRCm39) |
S374G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,090,715 (GRCm39) |
V449I |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,031 (GRCm39) |
V212D |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,792,194 (GRCm39) |
I21F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,349,904 (GRCm39) |
I491F |
possibly 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 |
|
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 |
|
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'- CACTTTCGCGGCTTTGACAAG -3'
(R):5'- AGAATTACCCTGGTCTCTGTGG -3'
Sequencing Primer
(F):5'- TTTGACAAGCCCGCAGC -3'
(R):5'- TGTGGGCTCTAGGACCCTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation