Incidental Mutation 'IGL01326:Fkbp15'
| ID |
74282 |
| 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 # |
IGL01326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62241487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 553
(S553P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
[ENSMUST00000098033]
[ENSMUST00000107461]
|
| AlphaFold |
Q6P9Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084527
AA Change: S553P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: S553P
| 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: S553P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: S553P
| 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: S553P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: S553P
| 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: S553P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: S553P
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
| Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
| Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
| Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
| Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
| Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
| Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
| Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
| H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
| Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
| Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
| Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
| Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
| Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
| Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
| Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
| Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
| Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
| Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
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 |
|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation