Incidental Mutation 'R4567:Hsf2bp'
ID |
343366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsf2bp
|
Ensembl Gene |
ENSMUSG00000002076 |
Gene Name |
heat shock transcription factor 2 binding protein |
Synonyms |
4932437G14Rik |
MMRRC Submission |
041791-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4567 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32163743-32253869 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32165708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 296
(V296M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002145]
|
AlphaFold |
Q9D4G2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002145
AA Change: V296M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000002145 Gene: ENSMUSG00000002076 AA Change: V296M
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 |
|
SMART Domains |
Protein: ENSMUSP00000115909 Gene: ENSMUSG00000002076 AA Change: G138D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171455
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
95% (38/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
Het |
|
Other mutations in Hsf2bp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01134:Hsf2bp
|
APN |
17 |
32,206,378 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAACATGGAGTTAGAAGCCTG -3'
(R):5'- TATTTCTGGATTAGCCCACAGC -3'
Sequencing Primer
(F):5'- CTGGGAGGGGATGGACCAC -3'
(R):5'- CACAGCTTTTTCAATTGTCAAACCTG -3'
|
Posted On |
2015-09-24 |