Incidental Mutation 'IGL00507:Fkbp9'
ID |
5445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fkbp9
|
Ensembl Gene |
ENSMUSG00000029781 |
Gene Name |
FK506 binding protein 9 |
Synonyms |
FKBP60, FKBP63 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
IGL00507
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
56809044-56856343 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56827686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 169
(V169E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031795]
|
AlphaFold |
Q9Z247 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031795
AA Change: V169E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031795 Gene: ENSMUSG00000029781 AA Change: V169E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
47 |
139 |
8.2e-31 |
PFAM |
Pfam:FKBP_C
|
159 |
251 |
5.8e-28 |
PFAM |
Pfam:FKBP_C
|
271 |
362 |
1.3e-27 |
PFAM |
Pfam:FKBP_C
|
382 |
474 |
2.8e-27 |
PFAM |
EFh
|
492 |
520 |
2.35e0 |
SMART |
EFh
|
537 |
565 |
1.98e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147159
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
C |
T |
9: 54,529,712 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,796 (GRCm39) |
R1450S |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,449,979 (GRCm39) |
I2258V |
probably benign |
Het |
Atxn2l |
C |
A |
7: 126,095,756 (GRCm39) |
A374S |
possibly damaging |
Het |
Cacna1a |
T |
A |
8: 85,297,837 (GRCm39) |
Y1182* |
probably null |
Het |
Cc2d1b |
G |
T |
4: 108,486,927 (GRCm39) |
A647S |
probably damaging |
Het |
Csn2 |
A |
G |
5: 87,842,632 (GRCm39) |
S116P |
probably benign |
Het |
Eya4 |
G |
A |
10: 23,033,434 (GRCm39) |
Q163* |
probably null |
Het |
Fam47c |
A |
T |
X: 77,781,931 (GRCm39) |
D171V |
probably benign |
Het |
Fhdc1 |
A |
T |
3: 84,356,107 (GRCm39) |
C446S |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,926,048 (GRCm39) |
I3751F |
probably damaging |
Het |
Gkn1 |
T |
C |
6: 87,323,321 (GRCm39) |
Y164C |
probably damaging |
Het |
Hs3st5 |
T |
C |
10: 36,708,918 (GRCm39) |
I151T |
probably benign |
Het |
Ighv8-6 |
A |
T |
12: 115,129,472 (GRCm39) |
S95T |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,420,263 (GRCm39) |
I296V |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,764,457 (GRCm39) |
E862G |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,044 (GRCm39) |
V934A |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,892,929 (GRCm39) |
I501K |
possibly damaging |
Het |
Mroh2b |
C |
T |
15: 4,991,609 (GRCm39) |
T1569I |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,645,706 (GRCm39) |
Y626* |
probably null |
Het |
Pak3 |
T |
A |
X: 142,572,329 (GRCm39) |
N477K |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,025,030 (GRCm39) |
H714R |
possibly damaging |
Het |
Ppil1 |
T |
C |
17: 29,470,675 (GRCm39) |
N102S |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,554,935 (GRCm39) |
R996* |
probably null |
Het |
Scd3 |
G |
A |
19: 44,224,273 (GRCm39) |
D169N |
probably damaging |
Het |
Sgo2a |
T |
A |
1: 58,055,753 (GRCm39) |
F646I |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,743,902 (GRCm39) |
Y346C |
possibly damaging |
Het |
Slc7a15 |
A |
T |
12: 8,585,474 (GRCm39) |
V49E |
probably damaging |
Het |
Stard8 |
G |
A |
X: 98,112,941 (GRCm39) |
E649K |
probably damaging |
Het |
|
Other mutations in Fkbp9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01398:Fkbp9
|
APN |
6 |
56,837,790 (GRCm39) |
splice site |
probably benign |
|
IGL02619:Fkbp9
|
APN |
6 |
56,827,609 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03349:Fkbp9
|
APN |
6 |
56,826,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Fkbp9
|
UTSW |
6 |
56,833,363 (GRCm39) |
nonsense |
probably null |
|
R0732:Fkbp9
|
UTSW |
6 |
56,855,089 (GRCm39) |
missense |
probably benign |
|
R1137:Fkbp9
|
UTSW |
6 |
56,837,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Fkbp9
|
UTSW |
6 |
56,850,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R3862:Fkbp9
|
UTSW |
6 |
56,845,890 (GRCm39) |
missense |
probably benign |
0.27 |
R4597:Fkbp9
|
UTSW |
6 |
56,809,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R4780:Fkbp9
|
UTSW |
6 |
56,827,701 (GRCm39) |
missense |
probably damaging |
0.96 |
R4803:Fkbp9
|
UTSW |
6 |
56,852,692 (GRCm39) |
missense |
probably benign |
0.03 |
R4928:Fkbp9
|
UTSW |
6 |
56,826,655 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5793:Fkbp9
|
UTSW |
6 |
56,850,498 (GRCm39) |
critical splice donor site |
probably null |
|
R7336:Fkbp9
|
UTSW |
6 |
56,826,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Fkbp9
|
UTSW |
6 |
56,845,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Fkbp9
|
UTSW |
6 |
56,828,370 (GRCm39) |
missense |
probably damaging |
0.99 |
R8085:Fkbp9
|
UTSW |
6 |
56,833,289 (GRCm39) |
missense |
probably benign |
|
R9173:Fkbp9
|
UTSW |
6 |
56,850,389 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9222:Fkbp9
|
UTSW |
6 |
56,852,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Fkbp9
|
UTSW |
6 |
56,855,181 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Posted On |
2012-04-20 |