Incidental Mutation 'IGL01338:Hsf2'
| ID |
74692 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsf2
|
| Ensembl Gene |
ENSMUSG00000019878 |
| Gene Name |
heat shock factor 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01338
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
57362481-57389231 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57377475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 124
(F124L)
|
| 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: F181L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078761
Gene: ENSMUSG00000019878
AA Change: F181L
| 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: F124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220353
AA Change: F181L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
| Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
| Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
| Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
| Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
| Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
| Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
| Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
| Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
| Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
| Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
| Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
| Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,147,382 (GRCm39) |
I39N |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
| Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
| Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
| Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
| Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
| Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
| Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
| Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
| Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
| Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation