Incidental Mutation 'R5878:Fkbp15'
ID |
455644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbp15
|
Ensembl Gene |
ENSMUSG00000066151 |
Gene Name |
FK506 binding protein 15 |
Synonyms |
C430014M02Rik, FKBP133 |
MMRRC Submission |
044084-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5878 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62225145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 838
(L838H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
|
AlphaFold |
Q6P9Q6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084527
AA Change: L838H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081575 Gene: ENSMUSG00000066151 AA Change: L838H
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 benign
Transcript: ENSMUST00000084528
|
SMART Domains |
Protein: ENSMUSP00000081576 Gene: ENSMUSG00000066151
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 |
noncoding transcript
Transcript: ENSMUST00000139308
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,385,792 (GRCm39) |
N275K |
possibly damaging |
Het |
Abhd6 |
G |
A |
14: 8,028,286 (GRCm38) |
V6I |
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,904,107 (GRCm39) |
T727A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,506,065 (GRCm39) |
E174G |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,985,706 (GRCm39) |
L2330R |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,100,186 (GRCm39) |
V129E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,712,137 (GRCm39) |
T1205A |
probably benign |
Het |
Ccdc3 |
T |
C |
2: 5,233,827 (GRCm39) |
L217P |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,800,423 (GRCm39) |
D1595G |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,197,037 (GRCm39) |
|
probably null |
Het |
Fam120b |
A |
G |
17: 15,622,502 (GRCm39) |
D160G |
probably damaging |
Het |
Fezf1 |
C |
A |
6: 23,247,580 (GRCm39) |
R165L |
possibly damaging |
Het |
Frmd3 |
G |
A |
4: 74,071,847 (GRCm39) |
G243D |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,120,867 (GRCm39) |
|
probably null |
Het |
Gm10188 |
T |
C |
1: 132,156,940 (GRCm39) |
|
probably benign |
Het |
Gm5190 |
T |
A |
12: 113,360,859 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
C |
11: 57,208,628 (GRCm39) |
|
probably null |
Het |
Hdhd5 |
A |
G |
6: 120,491,485 (GRCm39) |
L206P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,773,996 (GRCm39) |
N1149S |
probably benign |
Het |
Inca1 |
G |
A |
11: 70,586,808 (GRCm39) |
|
probably benign |
Het |
Iqch |
G |
A |
9: 63,455,272 (GRCm39) |
S175F |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Khk |
T |
A |
5: 31,088,219 (GRCm39) |
|
probably null |
Het |
Kiz |
C |
T |
2: 146,731,521 (GRCm39) |
S337L |
probably damaging |
Het |
Lzts3 |
G |
A |
2: 130,478,459 (GRCm39) |
T213I |
probably damaging |
Het |
Mab21l2 |
T |
A |
3: 86,454,025 (GRCm39) |
D325V |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,863,856 (GRCm39) |
S336P |
probably benign |
Het |
Me3 |
T |
A |
7: 89,497,214 (GRCm39) |
L405Q |
probably benign |
Het |
Mgst2 |
A |
T |
3: 51,568,651 (GRCm39) |
|
probably benign |
Het |
Myh2 |
A |
G |
11: 67,083,330 (GRCm39) |
E1431G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,436,181 (GRCm39) |
S781P |
probably damaging |
Het |
Nr3c2 |
A |
G |
8: 77,634,897 (GRCm39) |
|
probably null |
Het |
Or10ab5 |
A |
T |
7: 108,244,946 (GRCm39) |
L279Q |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,449 (GRCm39) |
Y134H |
probably damaging |
Het |
Or6x1 |
C |
T |
9: 40,098,867 (GRCm39) |
T152I |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,435,166 (GRCm39) |
R132L |
possibly damaging |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pcdhga4 |
G |
T |
18: 37,820,739 (GRCm39) |
G763W |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,168,204 (GRCm39) |
N9S |
possibly damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,080 (GRCm39) |
I147T |
probably benign |
Het |
Polh |
T |
A |
17: 46,505,251 (GRCm39) |
T122S |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,624,984 (GRCm39) |
V96A |
possibly damaging |
Het |
Ptpn6 |
C |
A |
6: 124,705,748 (GRCm39) |
C132F |
probably damaging |
Het |
Rbm19 |
T |
A |
5: 120,270,932 (GRCm39) |
V585E |
probably damaging |
Het |
Relch |
T |
A |
1: 105,620,685 (GRCm39) |
S387T |
probably benign |
Het |
Rp1l1 |
C |
T |
14: 64,266,355 (GRCm39) |
P647L |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,266,649 (GRCm39) |
E72G |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,742 (GRCm39) |
H392Q |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,093 (GRCm39) |
R371Q |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,144,217 (GRCm39) |
T287I |
possibly damaging |
Het |
Slc22a27 |
T |
A |
19: 7,904,122 (GRCm39) |
E5V |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,465 (GRCm39) |
V293A |
probably damaging |
Het |
Slco6d1 |
T |
A |
1: 98,391,561 (GRCm39) |
|
probably benign |
Het |
Sri |
G |
C |
5: 8,109,353 (GRCm39) |
D46H |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,800 (GRCm39) |
D207G |
possibly damaging |
Het |
Tigd4 |
T |
C |
3: 84,501,749 (GRCm39) |
M222T |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,172 (GRCm39) |
D194G |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,753 (GRCm39) |
V1259A |
possibly damaging |
Het |
Trdv5 |
T |
C |
14: 54,386,255 (GRCm39) |
D70G |
probably benign |
Het |
Trim52 |
T |
A |
14: 106,344,375 (GRCm39) |
M11K |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,940,772 (GRCm39) |
M882T |
probably benign |
Het |
Ybx3 |
A |
G |
6: 131,344,726 (GRCm39) |
|
probably null |
Het |
Zfand2b |
A |
G |
1: 75,147,154 (GRCm39) |
|
probably benign |
Het |
Zfp91 |
T |
A |
19: 12,747,684 (GRCm39) |
T480S |
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 |
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 |
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 |
|
Posted On |
2017-02-10 |