Incidental Mutation 'R2425:Fkbp15'
ID |
250140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbp15
|
Ensembl Gene |
ENSMUSG00000066151 |
Gene Name |
FK506 binding protein 15 |
Synonyms |
C430014M02Rik, FKBP133 |
MMRRC Submission |
040387-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2425 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62230602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 704
(T704A)
|
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: T704A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000081575 Gene: ENSMUSG00000066151 AA Change: T704A
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
AA Change: T704A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081576 Gene: ENSMUSG00000066151 AA Change: T704A
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
C |
7: 119,959,033 (GRCm39) |
F621S |
probably damaging |
Het |
Abcc10 |
A |
G |
17: 46,621,083 (GRCm39) |
Y976H |
probably damaging |
Het |
Abhd6 |
T |
A |
14: 8,049,857 (GRCm38) |
N215K |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,015,474 (GRCm39) |
T479A |
probably damaging |
Het |
Amacr |
A |
G |
15: 10,983,454 (GRCm39) |
Q88R |
possibly damaging |
Het |
Ankrd11 |
T |
A |
8: 123,619,902 (GRCm39) |
I1317F |
possibly damaging |
Het |
Ano3 |
C |
A |
2: 110,693,188 (GRCm39) |
A137S |
probably benign |
Het |
Astn1 |
T |
G |
1: 158,407,236 (GRCm39) |
S562A |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,691,931 (GRCm39) |
Y119F |
probably damaging |
Het |
CN725425 |
A |
C |
15: 91,130,058 (GRCm39) |
D307A |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,585,648 (GRCm39) |
Y1243C |
probably damaging |
Het |
Cyp2c50 |
T |
C |
19: 40,078,292 (GRCm39) |
I50T |
probably benign |
Het |
Dhrs9 |
A |
G |
2: 69,223,308 (GRCm39) |
K19E |
probably benign |
Het |
Dnajb14 |
T |
G |
3: 137,598,666 (GRCm39) |
F135V |
probably null |
Het |
Draxin |
T |
A |
4: 148,197,213 (GRCm39) |
T195S |
possibly damaging |
Het |
Elane |
C |
T |
10: 79,723,610 (GRCm39) |
R192C |
probably benign |
Het |
Fam171a2 |
A |
C |
11: 102,329,187 (GRCm39) |
I524S |
possibly damaging |
Het |
Fbxo10 |
C |
T |
4: 45,051,642 (GRCm39) |
E490K |
possibly damaging |
Het |
Fndc1 |
T |
A |
17: 8,023,850 (GRCm39) |
D35V |
probably damaging |
Het |
Galntl5 |
A |
G |
5: 25,425,079 (GRCm39) |
K366E |
probably damaging |
Het |
Gas7 |
G |
A |
11: 67,534,121 (GRCm39) |
A74T |
probably benign |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gldc |
T |
A |
19: 30,109,190 (GRCm39) |
N583Y |
probably damaging |
Het |
Gpr161 |
T |
A |
1: 165,138,192 (GRCm39) |
S259R |
possibly damaging |
Het |
Igfn1 |
T |
A |
1: 135,890,840 (GRCm39) |
T2387S |
probably damaging |
Het |
Il3 |
A |
T |
11: 54,156,375 (GRCm39) |
V119D |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,301,417 (GRCm39) |
T822A |
possibly damaging |
Het |
Jakmip1 |
C |
T |
5: 37,299,149 (GRCm39) |
Q790* |
probably null |
Het |
Kcne1 |
A |
G |
16: 92,145,646 (GRCm39) |
I66T |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,380,966 (GRCm39) |
S609P |
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,861,137 (GRCm39) |
E310G |
probably null |
Het |
Or2t48 |
A |
G |
11: 58,420,137 (GRCm39) |
I225T |
probably damaging |
Het |
Or8k21 |
A |
G |
2: 86,144,739 (GRCm39) |
V297A |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,697,372 (GRCm39) |
S103T |
possibly damaging |
Het |
Pla2g2a |
C |
A |
4: 138,560,229 (GRCm39) |
A24E |
possibly damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pramel1 |
T |
G |
4: 143,125,036 (GRCm39) |
L320R |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,385,438 (GRCm39) |
I325N |
probably damaging |
Het |
Rasgrp1 |
C |
G |
2: 117,119,931 (GRCm39) |
|
probably null |
Het |
Rbm12b1 |
T |
A |
4: 12,146,443 (GRCm39) |
I805N |
probably damaging |
Het |
Shld2 |
A |
G |
14: 33,990,646 (GRCm39) |
S87P |
probably damaging |
Het |
Slc12a9 |
G |
T |
5: 137,313,859 (GRCm39) |
A700E |
probably damaging |
Het |
Tbc1d24 |
A |
T |
17: 24,404,982 (GRCm39) |
V54E |
probably damaging |
Het |
Tmc8 |
A |
G |
11: 117,683,395 (GRCm39) |
D650G |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,270,001 (GRCm39) |
N1749K |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,701,594 (GRCm39) |
T810A |
probably benign |
Het |
Wdr70 |
C |
A |
15: 7,916,840 (GRCm39) |
E526* |
probably null |
Het |
Zfp935 |
G |
T |
13: 62,602,922 (GRCm39) |
Q93K |
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 |
|
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 |
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'- TGGTTTACTAATCAGCTACGCC -3'
(R):5'- TGCTTGCGCAGAAGGTGTATAC -3'
Sequencing Primer
(F):5'- AATCAGCTACGCCTGCACTTG -3'
(R):5'- CTTGCGCAGAAGGTGTATACATATAG -3'
|
Posted On |
2014-11-12 |