Incidental Mutation 'R0838:Fkbp15'
ID |
78030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbp15
|
Ensembl Gene |
ENSMUSG00000066151 |
Gene Name |
FK506 binding protein 15 |
Synonyms |
C430014M02Rik, FKBP133 |
MMRRC Submission |
039017-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0838 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 62242363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 530
(H530N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
[ENSMUST00000098033]
[ENSMUST00000107461]
|
AlphaFold |
Q6P9Q6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084527
AA Change: H530N
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081575 Gene: ENSMUSG00000066151 AA Change: H530N
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
190 |
286 |
4.8e-21 |
PFAM |
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
internal_repeat_1
|
403 |
431 |
1.88e-10 |
PROSPERO |
internal_repeat_1
|
472 |
500 |
1.88e-10 |
PROSPERO |
coiled coil region
|
560 |
662 |
N/A |
INTRINSIC |
coiled coil region
|
684 |
790 |
N/A |
INTRINSIC |
coiled coil region
|
816 |
865 |
N/A |
INTRINSIC |
coiled coil region
|
916 |
943 |
N/A |
INTRINSIC |
low complexity region
|
952 |
964 |
N/A |
INTRINSIC |
low complexity region
|
983 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1034 |
1045 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084528
AA Change: H530N
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081576 Gene: ENSMUSG00000066151 AA Change: H530N
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
190 |
286 |
2.4e-21 |
PFAM |
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
internal_repeat_1
|
403 |
431 |
2.74e-10 |
PROSPERO |
internal_repeat_1
|
472 |
500 |
2.74e-10 |
PROSPERO |
coiled coil region
|
560 |
662 |
N/A |
INTRINSIC |
coiled coil region
|
684 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098033
AA Change: H530N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000095641 Gene: ENSMUSG00000066151 AA Change: H530N
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
190 |
286 |
1.9e-21 |
PFAM |
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
internal_repeat_1
|
403 |
431 |
1.79e-8 |
PROSPERO |
internal_repeat_1
|
472 |
500 |
1.79e-8 |
PROSPERO |
coiled coil region
|
560 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107461
AA Change: H530N
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103085 Gene: ENSMUSG00000066151 AA Change: H530N
Domain | Start | End | E-Value | Type |
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
190 |
286 |
2e-21 |
PFAM |
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
internal_repeat_1
|
403 |
431 |
1.86e-8 |
PROSPERO |
internal_repeat_1
|
472 |
500 |
1.86e-8 |
PROSPERO |
coiled coil region
|
560 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139308
|
Meta Mutation Damage Score |
0.1016 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
T |
A |
7: 130,963,535 (GRCm39) |
M53L |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,550,297 (GRCm39) |
N638D |
possibly damaging |
Het |
Amy2b |
T |
C |
3: 113,058,317 (GRCm39) |
|
noncoding transcript |
Het |
Ap5s1 |
G |
A |
2: 131,053,351 (GRCm39) |
R45K |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,049,619 (GRCm39) |
Y994H |
probably damaging |
Het |
Arrdc3 |
A |
T |
13: 81,037,366 (GRCm39) |
|
probably benign |
Het |
Bard1 |
G |
A |
1: 71,069,812 (GRCm39) |
T722M |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,350,285 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd96 |
A |
G |
16: 45,938,289 (GRCm39) |
S59P |
probably damaging |
Het |
Chit1 |
T |
A |
1: 134,071,075 (GRCm39) |
C51* |
probably null |
Het |
Cilp2 |
G |
T |
8: 70,334,369 (GRCm39) |
H876Q |
probably benign |
Het |
Cyld |
A |
G |
8: 89,467,978 (GRCm39) |
E722G |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,612 (GRCm39) |
E188G |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,950,930 (GRCm39) |
W2898R |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,343,727 (GRCm39) |
T473A |
probably damaging |
Het |
Fam228a |
T |
A |
12: 4,785,002 (GRCm39) |
H43L |
possibly damaging |
Het |
Gga1 |
C |
T |
15: 78,776,118 (GRCm39) |
S387L |
probably damaging |
Het |
Gm4868 |
A |
G |
5: 125,925,687 (GRCm39) |
|
noncoding transcript |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Itgb4 |
A |
C |
11: 115,888,988 (GRCm39) |
|
probably benign |
Het |
Jag1 |
G |
A |
2: 136,935,198 (GRCm39) |
T388I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,095,514 (GRCm39) |
D551G |
probably damaging |
Het |
Lrp2bp |
A |
G |
8: 46,478,161 (GRCm39) |
D270G |
possibly damaging |
Het |
Map3k19 |
C |
A |
1: 127,751,696 (GRCm39) |
V552F |
probably benign |
Het |
Mixl1 |
A |
T |
1: 180,524,365 (GRCm39) |
D71E |
probably benign |
Het |
Myocd |
A |
G |
11: 65,069,758 (GRCm39) |
I694T |
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,091,322 (GRCm39) |
S198T |
probably benign |
Het |
Npepps |
A |
T |
11: 97,158,518 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
C |
T |
12: 10,425,071 (GRCm39) |
Q206* |
probably null |
Het |
Or51b17 |
T |
A |
7: 103,542,622 (GRCm39) |
I107F |
probably benign |
Het |
Orm1 |
A |
G |
4: 63,263,394 (GRCm39) |
Y69C |
probably damaging |
Het |
Plscr4 |
T |
A |
9: 92,353,813 (GRCm39) |
|
probably benign |
Het |
Pon1 |
G |
A |
6: 5,175,758 (GRCm39) |
T188I |
possibly damaging |
Het |
Ppm1a |
T |
A |
12: 72,831,094 (GRCm39) |
H206Q |
probably benign |
Het |
Prl8a1 |
G |
A |
13: 27,758,008 (GRCm39) |
R234C |
probably damaging |
Het |
Rfx3 |
C |
T |
19: 27,827,367 (GRCm39) |
R73Q |
possibly damaging |
Het |
Rims2 |
T |
C |
15: 39,544,421 (GRCm39) |
V1466A |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,099,485 (GRCm39) |
F319L |
probably benign |
Het |
Slc15a4 |
A |
G |
5: 127,694,067 (GRCm39) |
S123P |
possibly damaging |
Het |
Slc1a6 |
A |
T |
10: 78,632,056 (GRCm39) |
D294V |
probably damaging |
Het |
Slc28a3 |
A |
T |
13: 58,736,083 (GRCm39) |
D38E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,890,282 (GRCm39) |
S513P |
possibly damaging |
Het |
Stard3nl |
A |
G |
13: 19,556,756 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,531,323 (GRCm39) |
T2527A |
probably damaging |
Het |
Sult3a1 |
C |
T |
10: 33,755,284 (GRCm39) |
P283L |
probably damaging |
Het |
Tgtp1 |
A |
G |
11: 48,877,970 (GRCm39) |
V245A |
probably benign |
Het |
Txndc16 |
T |
C |
14: 45,402,876 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
A |
G |
16: 18,042,430 (GRCm39) |
L590S |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,111,220 (GRCm39) |
C637S |
possibly damaging |
Het |
Zfp366 |
A |
G |
13: 99,365,118 (GRCm39) |
E93G |
possibly damaging |
Het |
Zfp69 |
T |
C |
4: 120,788,478 (GRCm39) |
N279S |
probably benign |
Het |
Zscan10 |
T |
C |
17: 23,829,008 (GRCm39) |
S407P |
possibly damaging |
Het |
|
Other mutations in Fkbp15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00659:Fkbp15
|
APN |
4 |
62,251,917 (GRCm39) |
splice site |
probably benign |
|
IGL01326:Fkbp15
|
APN |
4 |
62,241,487 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01822:Fkbp15
|
APN |
4 |
62,270,741 (GRCm39) |
missense |
probably benign |
|
IGL01925:Fkbp15
|
APN |
4 |
62,241,450 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02190:Fkbp15
|
APN |
4 |
62,223,059 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02276:Fkbp15
|
APN |
4 |
62,254,703 (GRCm39) |
nonsense |
probably null |
|
IGL02310:Fkbp15
|
APN |
4 |
62,258,553 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02954:Fkbp15
|
APN |
4 |
62,239,302 (GRCm39) |
splice site |
probably benign |
|
IGL02967:Fkbp15
|
APN |
4 |
62,222,627 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03136:Fkbp15
|
APN |
4 |
62,258,466 (GRCm39) |
splice site |
probably benign |
|
IGL03185:Fkbp15
|
APN |
4 |
62,250,423 (GRCm39) |
splice site |
probably null |
|
IGL03280:Fkbp15
|
APN |
4 |
62,221,504 (GRCm39) |
unclassified |
probably benign |
|
dura
|
UTSW |
4 |
62,242,363 (GRCm39) |
missense |
probably damaging |
0.96 |
mater
|
UTSW |
4 |
62,244,373 (GRCm39) |
missense |
probably benign |
0.22 |
R0419:Fkbp15
|
UTSW |
4 |
62,244,373 (GRCm39) |
missense |
probably benign |
0.22 |
R1241:Fkbp15
|
UTSW |
4 |
62,222,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1394:Fkbp15
|
UTSW |
4 |
62,246,109 (GRCm39) |
missense |
probably benign |
0.00 |
R1622:Fkbp15
|
UTSW |
4 |
62,241,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1682:Fkbp15
|
UTSW |
4 |
62,242,431 (GRCm39) |
missense |
probably damaging |
0.98 |
R1823:Fkbp15
|
UTSW |
4 |
62,255,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Fkbp15
|
UTSW |
4 |
62,222,618 (GRCm39) |
missense |
probably benign |
0.00 |
R2132:Fkbp15
|
UTSW |
4 |
62,246,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2133:Fkbp15
|
UTSW |
4 |
62,246,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2425:Fkbp15
|
UTSW |
4 |
62,230,602 (GRCm39) |
missense |
probably benign |
0.00 |
R2938:Fkbp15
|
UTSW |
4 |
62,222,900 (GRCm39) |
missense |
probably benign |
0.23 |
R3034:Fkbp15
|
UTSW |
4 |
62,225,129 (GRCm39) |
splice site |
probably null |
|
R3957:Fkbp15
|
UTSW |
4 |
62,252,489 (GRCm39) |
missense |
probably benign |
0.01 |
R3963:Fkbp15
|
UTSW |
4 |
62,258,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R4235:Fkbp15
|
UTSW |
4 |
62,254,693 (GRCm39) |
missense |
probably benign |
0.38 |
R4334:Fkbp15
|
UTSW |
4 |
62,221,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4366:Fkbp15
|
UTSW |
4 |
62,254,651 (GRCm39) |
missense |
probably benign |
0.38 |
R4717:Fkbp15
|
UTSW |
4 |
62,226,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Fkbp15
|
UTSW |
4 |
62,226,234 (GRCm39) |
missense |
probably benign |
0.05 |
R5075:Fkbp15
|
UTSW |
4 |
62,239,266 (GRCm39) |
missense |
probably damaging |
0.96 |
R5176:Fkbp15
|
UTSW |
4 |
62,230,560 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5419:Fkbp15
|
UTSW |
4 |
62,246,114 (GRCm39) |
missense |
probably damaging |
0.98 |
R5503:Fkbp15
|
UTSW |
4 |
62,246,124 (GRCm39) |
missense |
probably benign |
0.05 |
R5731:Fkbp15
|
UTSW |
4 |
62,225,166 (GRCm39) |
missense |
probably benign |
0.01 |
R5733:Fkbp15
|
UTSW |
4 |
62,225,166 (GRCm39) |
missense |
probably benign |
0.01 |
R5820:Fkbp15
|
UTSW |
4 |
62,263,783 (GRCm39) |
missense |
probably benign |
0.00 |
R5878:Fkbp15
|
UTSW |
4 |
62,225,145 (GRCm39) |
missense |
probably benign |
|
R5898:Fkbp15
|
UTSW |
4 |
62,244,294 (GRCm39) |
critical splice donor site |
probably null |
|
R5914:Fkbp15
|
UTSW |
4 |
62,246,047 (GRCm39) |
splice site |
probably null |
|
R6113:Fkbp15
|
UTSW |
4 |
62,258,884 (GRCm39) |
missense |
probably benign |
0.38 |
R6377:Fkbp15
|
UTSW |
4 |
62,242,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R6427:Fkbp15
|
UTSW |
4 |
62,241,439 (GRCm39) |
missense |
probably benign |
0.01 |
R6464:Fkbp15
|
UTSW |
4 |
62,226,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6528:Fkbp15
|
UTSW |
4 |
62,250,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Fkbp15
|
UTSW |
4 |
62,222,996 (GRCm39) |
missense |
probably benign |
0.01 |
R6880:Fkbp15
|
UTSW |
4 |
62,254,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6911:Fkbp15
|
UTSW |
4 |
62,258,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Fkbp15
|
UTSW |
4 |
62,239,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7410:Fkbp15
|
UTSW |
4 |
62,258,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R7660:Fkbp15
|
UTSW |
4 |
62,232,578 (GRCm39) |
missense |
probably benign |
0.08 |
R7992:Fkbp15
|
UTSW |
4 |
62,230,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Fkbp15
|
UTSW |
4 |
62,230,521 (GRCm39) |
nonsense |
probably null |
|
R8697:Fkbp15
|
UTSW |
4 |
62,239,295 (GRCm39) |
nonsense |
probably null |
|
R8880:Fkbp15
|
UTSW |
4 |
62,232,602 (GRCm39) |
missense |
probably benign |
|
R8998:Fkbp15
|
UTSW |
4 |
62,242,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R9236:Fkbp15
|
UTSW |
4 |
62,254,664 (GRCm39) |
missense |
probably damaging |
0.97 |
R9382:Fkbp15
|
UTSW |
4 |
62,237,210 (GRCm39) |
missense |
probably damaging |
0.99 |
R9654:Fkbp15
|
UTSW |
4 |
62,230,553 (GRCm39) |
missense |
probably benign |
0.01 |
X0013:Fkbp15
|
UTSW |
4 |
62,230,607 (GRCm39) |
missense |
probably benign |
0.36 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATCCTATGTGTTGCCTACTTCCTGTA -3'
(R):5'- GCTCTGCTAAAACTGCCCTTGACT -3'
Sequencing Primer
(F):5'- gaactgccacccgagcc -3'
(R):5'- AAAACTGCCCTTGACTTTTCCATAC -3'
|
Posted On |
2013-10-16 |