Incidental Mutation 'R4958:Hsf2'
| ID |
482158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf2
|
| Ensembl Gene |
ENSMUSG00000019878 |
| Gene Name |
heat shock factor 2 |
| Synonyms |
|
| MMRRC Submission |
042555-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4958 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
57362481-57389231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57377467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 121
(I121T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152013
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079833]
[ENSMUST00000220042]
[ENSMUST00000220353]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079833
AA Change: I178T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: I178T
| 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: I121T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220353
AA Change: I178T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
A |
G |
6: 18,866,722 (GRCm39) |
S81G |
probably benign |
Het |
| Arel1 |
T |
C |
12: 84,973,078 (GRCm39) |
K573R |
possibly damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdh2 |
T |
G |
18: 16,760,622 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,559,339 (GRCm39) |
I99N |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,699,916 (GRCm39) |
T256A |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,237,970 (GRCm39) |
V152A |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,641 (GRCm39) |
T105A |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,764 (GRCm39) |
L728Q |
probably damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,261 (GRCm39) |
R768L |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,048 (GRCm39) |
I573V |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,369,157 (GRCm39) |
T303K |
probably damaging |
Het |
| Map3k5 |
A |
T |
10: 19,899,535 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,376 (GRCm39) |
S180P |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,183 (GRCm39) |
D655G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,785 (GRCm39) |
E1521G |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,049,366 (GRCm39) |
S1200R |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,595,808 (GRCm39) |
F12L |
probably damaging |
Het |
| Or52n2b |
T |
C |
7: 104,565,668 (GRCm39) |
I278M |
probably damaging |
Het |
| Or6z3 |
G |
A |
7: 6,464,057 (GRCm39) |
C183Y |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,449 (GRCm39) |
M118V |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,796,784 (GRCm39) |
I875T |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,885 (GRCm39) |
F26I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,366,814 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,841 (GRCm39) |
R315S |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,217 (GRCm39) |
R727Q |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,119,657 (GRCm39) |
V91D |
probably benign |
Het |
| Slco1a6 |
C |
A |
6: 142,091,431 (GRCm39) |
G90C |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,134 (GRCm39) |
Y106C |
probably benign |
Het |
| Syt13 |
G |
A |
2: 92,783,794 (GRCm39) |
V355M |
probably damaging |
Het |
| Tjp1 |
G |
A |
7: 64,985,850 (GRCm39) |
R314* |
probably null |
Het |
| Tshr |
A |
G |
12: 91,504,961 (GRCm39) |
D633G |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,701 (GRCm39) |
F202S |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,763,533 (GRCm39) |
W427R |
probably damaging |
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 |
|
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'- TCACAGTGCTGTCTTCCTGG -3'
(R):5'- GATCCTCACCCTGTTAAGACTATTC -3'
Sequencing Primer
(F):5'- CAGTGCTGTCTTCCTGGAAAAAC -3'
(R):5'- CCCTGTTAAGACTATTCTTGAAATGC -3'
|
| Posted On |
2017-06-29 |
Incidental Mutation