Incidental Mutation 'R6377:Fkbp15'
ID |
515033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbp15
|
Ensembl Gene |
ENSMUSG00000066151 |
Gene Name |
FK506 binding protein 15 |
Synonyms |
C430014M02Rik, FKBP133 |
MMRRC Submission |
044527-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6377 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62242429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 508
(T508A)
|
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: T508A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081575 Gene: ENSMUSG00000066151 AA Change: T508A
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: T508A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000081576 Gene: ENSMUSG00000066151 AA Change: T508A
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: T508A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095641 Gene: ENSMUSG00000066151 AA Change: T508A
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: T508A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103085 Gene: ENSMUSG00000066151 AA Change: T508A
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 |
0.1447 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
Validation Efficiency |
94% (59/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankib1 |
A |
G |
5: 3,743,855 (GRCm39) |
S812P |
possibly damaging |
Het |
Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
Atrn |
A |
G |
2: 130,821,889 (GRCm39) |
I861V |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,975,608 (GRCm39) |
G629C |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
Rnf31 |
A |
G |
14: 55,832,984 (GRCm39) |
T413A |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,187,906 (GRCm39) |
|
probably null |
Het |
Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
probably null |
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 |
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 |
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'- TCTCTATTATCATGTGCTCATATGGT -3'
(R):5'- TGTGCTTCTCCTGACAGTGT -3'
Sequencing Primer
(F):5'- AAACTCAGGTCACTGTGCTTG -3'
(R):5'- TCTCCTGACAGTGTGAAATCAC -3'
|
Posted On |
2018-05-04 |