Incidental Mutation 'IGL01134:Hsf2bp'
| ID |
53106 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsf2bp
|
| Ensembl Gene |
ENSMUSG00000002076 |
| Gene Name |
heat shock transcription factor 2 binding protein |
| Synonyms |
4932437G14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32163743-32253869 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32206378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 251
(L251S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002145]
|
| AlphaFold |
Q9D4G2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002145
AA Change: L251S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076
AA Change: L251S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
50 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
225 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
252 |
329 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133308
|
| SMART Domains |
Protein: ENSMUSP00000115909
Gene: ENSMUSG00000002076
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,125 (GRCm39) |
I179N |
probably damaging |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
probably damaging |
Het |
|
| Other mutations in Hsf2bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03274:Hsf2bp
|
APN |
17 |
32,226,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0563:Hsf2bp
|
UTSW |
17 |
32,226,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Hsf2bp
|
UTSW |
17 |
32,232,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0960:Hsf2bp
|
UTSW |
17 |
32,226,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1967:Hsf2bp
|
UTSW |
17 |
32,206,378 (GRCm39) |
nonsense |
probably null |
|
|
R4375:Hsf2bp
|
UTSW |
17 |
32,206,322 (GRCm39) |
missense |
probably null |
1.00 |
|
R4567:Hsf2bp
|
UTSW |
17 |
32,165,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5510:Hsf2bp
|
UTSW |
17 |
32,165,721 (GRCm39) |
missense |
unknown |
|
|
R5546:Hsf2bp
|
UTSW |
17 |
32,165,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5988:Hsf2bp
|
UTSW |
17 |
32,230,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7026:Hsf2bp
|
UTSW |
17 |
32,252,254 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7459:Hsf2bp
|
UTSW |
17 |
32,165,708 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7790:Hsf2bp
|
UTSW |
17 |
32,253,453 (GRCm39) |
missense |
probably benign |
|
|
R7944:Hsf2bp
|
UTSW |
17 |
32,226,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Hsf2bp
|
UTSW |
17 |
32,252,241 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9130:Hsf2bp
|
UTSW |
17 |
32,230,082 (GRCm39) |
intron |
probably benign |
|
|
R9275:Hsf2bp
|
UTSW |
17 |
32,206,336 (GRCm39) |
nonsense |
probably null |
|
|
R9588:Hsf2bp
|
UTSW |
17 |
32,241,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation