Incidental Mutation 'R7950:Hsf1'
| ID |
649519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsf1
|
| Ensembl Gene |
ENSMUSG00000022556 |
| Gene Name |
heat shock factor 1 |
| Synonyms |
heat shock transcription factor 1 |
| MMRRC Submission |
045995-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76361562-76385355 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76382393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 255
(S255P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023214]
[ENSMUST00000072838]
[ENSMUST00000226860]
[ENSMUST00000226872]
[ENSMUST00000227478]
[ENSMUST00000228371]
[ENSMUST00000228757]
[ENSMUST00000228868]
[ENSMUST00000229363]
|
| AlphaFold |
P38532 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023214
|
| SMART Domains |
Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
Pfam:MBOAT
|
162 |
485 |
8.4e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072838
AA Change: S255P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556
AA Change: S255P
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
14 |
118 |
2.27e-66 |
SMART |
|
Pfam:Vert_HS_TF
|
247 |
414 |
6e-65 |
PFAM |
|
Pfam:Vert_HS_TF
|
412 |
503 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226238
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226872
AA Change: S255P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227478
AA Change: S255P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228371
AA Change: S255P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228688
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229363
AA Change: S255P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phsphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Aug 2016]
PHENOTYPE: Inactivation of this gene results in female infertility. Additional abnormalities observed in one line of targeted mice include placental defects, growth retardation, loss of the classical heat shock response, and impaired immune response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
| Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
| Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
| Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
| Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
| C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
| C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
| Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,074 (GRCm39) |
K221E |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
| Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
| Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
| Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
| Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
| Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
| Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
| Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
| Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
| Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
| Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
| Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
| Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
| Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
| Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
| Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
| Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
Het |
|
| Other mutations in Hsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01116:Hsf1
|
APN |
15 |
76,382,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01668:Hsf1
|
APN |
15 |
76,381,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01724:Hsf1
|
APN |
15 |
76,381,037 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02111:Hsf1
|
APN |
15 |
76,380,281 (GRCm39) |
splice site |
probably benign |
|
|
IGL02503:Hsf1
|
APN |
15 |
76,382,870 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03137:Hsf1
|
APN |
15 |
76,380,649 (GRCm39) |
splice site |
probably benign |
|
|
R0350:Hsf1
|
UTSW |
15 |
76,384,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6906:Hsf1
|
UTSW |
15 |
76,361,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7170:Hsf1
|
UTSW |
15 |
76,384,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Hsf1
|
UTSW |
15 |
76,383,387 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8050:Hsf1
|
UTSW |
15 |
76,382,481 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8724:Hsf1
|
UTSW |
15 |
76,381,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8752:Hsf1
|
UTSW |
15 |
76,384,344 (GRCm39) |
nonsense |
probably null |
|
|
R8919:Hsf1
|
UTSW |
15 |
76,382,051 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9444:Hsf1
|
UTSW |
15 |
76,384,769 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9487:Hsf1
|
UTSW |
15 |
76,382,398 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGTGACAGCAACTCAGCAC -3'
(R):5'- TTTCAGCTCTGCCCAAGGTC -3'
Sequencing Primer
(F):5'- AAGTATGGTCGACAGTACTCCCTG -3'
(R):5'- TCTGCCCAAGGTCATAAAGGCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation