Incidental Mutation 'R6309:Hsf2'
| ID |
509735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf2
|
| Ensembl Gene |
ENSMUSG00000019878 |
| Gene Name |
heat shock factor 2 |
| Synonyms |
|
| MMRRC Submission |
044413-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
57362481-57389231 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 57362676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079833]
[ENSMUST00000220042]
[ENSMUST00000220353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
silent
Transcript: ENSMUST00000079833
|
| SMART Domains |
Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
| 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: ENSMUST00000180831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220042
|
| Predicted Effect |
silent
Transcript: ENSMUST00000220353
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
92% (35/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,117,259 (GRCm39) |
|
probably null |
Het |
| Ak4 |
T |
C |
4: 101,320,859 (GRCm39) |
Y223H |
probably benign |
Het |
| Cerk |
T |
C |
15: 86,040,869 (GRCm39) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,576 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
G |
19: 37,022,089 (GRCm39) |
I569L |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,323,358 (GRCm39) |
N569K |
probably benign |
Het |
| Erich5 |
T |
C |
15: 34,471,602 (GRCm39) |
L277P |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,690,804 (GRCm39) |
S256P |
probably damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,761 (GRCm39) |
V679A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm8212 |
A |
G |
14: 44,438,636 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,710,025 (GRCm39) |
T1174S |
probably benign |
Het |
| Hipk2 |
T |
C |
6: 38,675,446 (GRCm39) |
Y1045C |
probably damaging |
Het |
| Ighv1-4 |
G |
T |
12: 114,451,015 (GRCm39) |
A31E |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,279 (GRCm39) |
K151E |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,546 (GRCm39) |
M685K |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,109,429 (GRCm39) |
D209E |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,328 (GRCm39) |
S508P |
probably damaging |
Het |
| Lrrn3 |
G |
A |
12: 41,503,205 (GRCm39) |
R371C |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,277,878 (GRCm39) |
T755A |
probably benign |
Het |
| Odad2 |
A |
G |
18: 7,214,617 (GRCm39) |
V728A |
probably benign |
Het |
| Or10al7 |
T |
A |
17: 38,366,043 (GRCm39) |
Y138F |
probably damaging |
Het |
| Or2n1 |
T |
C |
17: 38,486,410 (GRCm39) |
V145A |
probably benign |
Het |
| Phf24 |
A |
G |
4: 42,933,960 (GRCm39) |
D14G |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,441,443 (GRCm39) |
C314* |
probably null |
Het |
| Rnf187 |
A |
T |
11: 58,827,986 (GRCm39) |
S155T |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Scn10a |
A |
G |
9: 119,453,181 (GRCm39) |
I1237T |
possibly damaging |
Het |
| Sec16a |
T |
C |
2: 26,328,583 (GRCm39) |
N1144S |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,081 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc37a3 |
T |
C |
6: 39,334,394 (GRCm39) |
*84W |
probably null |
Het |
| Trpm2 |
T |
A |
10: 77,774,202 (GRCm39) |
I466F |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,660 (GRCm39) |
I288F |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,801,124 (GRCm39) |
T271A |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,120,397 (GRCm39) |
|
probably null |
Het |
| Wdr95 |
A |
G |
5: 149,504,268 (GRCm39) |
|
probably null |
Het |
| Zfp960 |
T |
C |
17: 17,308,639 (GRCm39) |
I451T |
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 |
|
R2406:Hsf2
|
UTSW |
10 |
57,373,642 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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 |
|
| Posted On |
2018-04-02 |
Incidental Mutation