Incidental Mutation 'R2406:Hsf2'
| ID |
248011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf2
|
| Ensembl Gene |
ENSMUSG00000019878 |
| Gene Name |
heat shock factor 2 |
| Synonyms |
|
| MMRRC Submission |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
57362481-57389231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 57373642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 70
(T70I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079833]
[ENSMUST00000220042]
[ENSMUST00000220353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079833
AA Change: T127I
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: T127I
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
6 |
110 |
1.99e-62 |
SMART |
|
coiled coil region
|
133 |
176 |
N/A |
INTRINSIC |
|
Pfam:Vert_HS_TF
|
230 |
392 |
1.5e-39 |
PFAM |
|
Pfam:Vert_HS_TF
|
391 |
494 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219171
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220042
AA Change: T70I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220353
AA Change: T127I
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased late-gestational lethality associated with collapsed lateral ventricles and ventricular bleeding. Survivors may show ventricular dilation, sterility in females, and reduced sperm counts in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
Het |
|
| Other mutations in Hsf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Hsf2
|
APN |
10 |
57,388,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00965:Hsf2
|
APN |
10 |
57,388,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01338:Hsf2
|
APN |
10 |
57,377,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01518:Hsf2
|
APN |
10 |
57,388,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01721:Hsf2
|
APN |
10 |
57,372,277 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02219:Hsf2
|
APN |
10 |
57,372,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03493:Hsf2
|
APN |
10 |
57,381,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1Funyon:Hsf2
|
UTSW |
10 |
57,381,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Hsf2
|
UTSW |
10 |
57,378,735 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1774:Hsf2
|
UTSW |
10 |
57,388,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Hsf2
|
UTSW |
10 |
57,381,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Hsf2
|
UTSW |
10 |
57,372,266 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4958:Hsf2
|
UTSW |
10 |
57,377,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5154:Hsf2
|
UTSW |
10 |
57,380,808 (GRCm39) |
missense |
probably benign |
|
|
R5237:Hsf2
|
UTSW |
10 |
57,382,317 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5903:Hsf2
|
UTSW |
10 |
57,380,819 (GRCm39) |
missense |
probably benign |
|
|
R6125:Hsf2
|
UTSW |
10 |
57,388,101 (GRCm39) |
missense |
probably benign |
|
|
R6126:Hsf2
|
UTSW |
10 |
57,372,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Hsf2
|
UTSW |
10 |
57,387,591 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6309:Hsf2
|
UTSW |
10 |
57,362,676 (GRCm39) |
start gained |
probably benign |
|
|
R6954:Hsf2
|
UTSW |
10 |
57,380,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Hsf2
|
UTSW |
10 |
57,372,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Hsf2
|
UTSW |
10 |
57,388,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Hsf2
|
UTSW |
10 |
57,381,272 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7511:Hsf2
|
UTSW |
10 |
57,380,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Hsf2
|
UTSW |
10 |
57,387,431 (GRCm39) |
splice site |
probably null |
|
|
R8176:Hsf2
|
UTSW |
10 |
57,381,290 (GRCm39) |
nonsense |
probably null |
|
|
R8301:Hsf2
|
UTSW |
10 |
57,381,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Hsf2
|
UTSW |
10 |
57,388,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Hsf2
|
UTSW |
10 |
57,381,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9506:Hsf2
|
UTSW |
10 |
57,381,241 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9520:Hsf2
|
UTSW |
10 |
57,371,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Hsf2
|
UTSW |
10 |
57,372,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACAGTGATCACTCCTTGCTC -3'
(R):5'- CTTGGCTACTGAAGACTACTTACAAC -3'
Sequencing Primer
(F):5'- CTCTCTCTTGTATTGAACTGTGAAG -3'
(R):5'- CTGAAGACTACTTACAACAACACAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation