Incidental Mutation 'IGL01925:Fkbp15'
| ID |
180278 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62241450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 565
(I565T)
|
| 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: I565T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: I565T
| 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 |
probably damaging
Transcript: ENSMUST00000084528
AA Change: I565T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: I565T
| 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 |
probably damaging
Transcript: ENSMUST00000098033
AA Change: I565T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: I565T
| 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 |
probably damaging
Transcript: ENSMUST00000107461
AA Change: I565T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: I565T
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,019,459 (GRCm39) |
D124G |
probably damaging |
Het |
| Arap3 |
C |
T |
18: 38,117,299 (GRCm39) |
V926I |
probably benign |
Het |
| Catspere2 |
T |
A |
1: 177,842,687 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,958 (GRCm39) |
V1176M |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,771,628 (GRCm39) |
D922E |
possibly damaging |
Het |
| Dipk2a |
A |
C |
9: 94,402,509 (GRCm39) |
D384E |
probably damaging |
Het |
| Epm2a |
T |
A |
10: 11,324,502 (GRCm39) |
I197N |
possibly damaging |
Het |
| Faim |
T |
G |
9: 98,872,972 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
G |
A |
9: 32,377,127 (GRCm39) |
P47L |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,781,106 (GRCm39) |
K187R |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hspa5 |
G |
A |
2: 34,664,730 (GRCm39) |
V395I |
probably benign |
Het |
| Ide |
T |
C |
19: 37,255,296 (GRCm39) |
T836A |
unknown |
Het |
| Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
C |
T |
4: 11,235,617 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,245 (GRCm39) |
H2060L |
probably benign |
Het |
| Mok |
T |
C |
12: 110,774,646 (GRCm39) |
N208S |
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,825 (GRCm39) |
K5R |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,529,260 (GRCm39) |
C1405Y |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,746,460 (GRCm39) |
S117P |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,812,979 (GRCm39) |
C226S |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,585 (GRCm39) |
W360R |
probably damaging |
Het |
| Or10al4 |
A |
G |
17: 38,037,002 (GRCm39) |
E29G |
probably benign |
Het |
| Or13f5 |
A |
G |
4: 52,825,910 (GRCm39) |
N171S |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,110,058 (GRCm39) |
T186A |
probably benign |
Het |
| Or2d3b |
T |
A |
7: 106,514,235 (GRCm39) |
F277I |
probably damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,341 (GRCm39) |
D95G |
possibly damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,410 (GRCm39) |
S315P |
probably damaging |
Het |
| Rai14 |
A |
G |
15: 10,595,948 (GRCm39) |
S118P |
possibly damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,399 (GRCm39) |
S269P |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,231,696 (GRCm39) |
T209I |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,596,817 (GRCm39) |
N1094I |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,061,955 (GRCm39) |
|
probably benign |
Het |
| Top1mt |
A |
G |
15: 75,528,992 (GRCm39) |
F584S |
possibly damaging |
Het |
| Trim44 |
A |
T |
2: 102,230,362 (GRCm39) |
L223Q |
probably benign |
Het |
| Trim69 |
T |
A |
2: 121,998,397 (GRCm39) |
L123Q |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,265,875 (GRCm39) |
L1153I |
possibly damaging |
Het |
| Unc13a |
G |
A |
8: 72,087,187 (GRCm39) |
T1520I |
possibly damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,428,973 (GRCm39) |
I701S |
possibly damaging |
Het |
| Wrn |
T |
C |
8: 33,809,208 (GRCm39) |
T263A |
probably benign |
Het |
| Yeats2 |
T |
G |
16: 19,998,430 (GRCm39) |
|
probably benign |
Het |
| Ythdf2 |
T |
C |
4: 131,938,085 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,239 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R0838:Fkbp15
|
UTSW |
4 |
62,242,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation