Incidental Mutation 'R4483:Fkbpl'
ID |
331511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbpl
|
Ensembl Gene |
ENSMUSG00000033739 |
Gene Name |
FK506 binding protein-like |
Synonyms |
WAF-1/CIP1 stabilizing protein 39, Ppiase-X, NG7, DIR1, WISp39 |
MMRRC Submission |
041739-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R4483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34865269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 346
(F346L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015605]
[ENSMUST00000036720]
[ENSMUST00000173984]
[ENSMUST00000174519]
[ENSMUST00000174614]
[ENSMUST00000174796]
|
AlphaFold |
O35450 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015605
|
SMART Domains |
Protein: ENSMUSP00000015605 Gene: ENSMUSG00000015461
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
110 |
N/A |
INTRINSIC |
internal_repeat_1
|
113 |
156 |
2.55e-13 |
PROSPERO |
low complexity region
|
162 |
180 |
N/A |
INTRINSIC |
internal_repeat_1
|
186 |
230 |
2.55e-13 |
PROSPERO |
low complexity region
|
238 |
255 |
N/A |
INTRINSIC |
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
BRLZ
|
320 |
384 |
7.08e-15 |
SMART |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
low complexity region
|
484 |
497 |
N/A |
INTRINSIC |
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
low complexity region
|
667 |
693 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036720
AA Change: F346L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000037273 Gene: ENSMUSG00000033739 AA Change: F346L
Domain | Start | End | E-Value | Type |
TPR
|
208 |
241 |
2.92e1 |
SMART |
TPR
|
250 |
283 |
4.77e-2 |
SMART |
TPR
|
284 |
317 |
1.89e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173984
|
SMART Domains |
Protein: ENSMUSP00000133516 Gene: ENSMUSG00000015461
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
113 |
N/A |
INTRINSIC |
internal_repeat_1
|
116 |
159 |
2.54e-13 |
PROSPERO |
low complexity region
|
165 |
183 |
N/A |
INTRINSIC |
internal_repeat_1
|
189 |
233 |
2.54e-13 |
PROSPERO |
low complexity region
|
241 |
258 |
N/A |
INTRINSIC |
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
BRLZ
|
323 |
387 |
2.9e-17 |
SMART |
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
low complexity region
|
487 |
500 |
N/A |
INTRINSIC |
low complexity region
|
547 |
560 |
N/A |
INTRINSIC |
low complexity region
|
670 |
696 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174519
|
SMART Domains |
Protein: ENSMUSP00000133558 Gene: ENSMUSG00000015461
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174796
|
Meta Mutation Damage Score |
0.2694 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Heterozygotes develop normally but exhibit enhanced angiogenesis in various experimental and tumor disease models. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,487,141 (GRCm39) |
|
probably null |
Het |
Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
probably benign |
Het |
|
Other mutations in Fkbpl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01085:Fkbpl
|
APN |
17 |
34,864,718 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02129:Fkbpl
|
APN |
17 |
34,864,952 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02322:Fkbpl
|
APN |
17 |
34,864,298 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03331:Fkbpl
|
APN |
17 |
34,864,661 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03347:Fkbpl
|
APN |
17 |
34,865,287 (GRCm39) |
unclassified |
probably benign |
|
R0278:Fkbpl
|
UTSW |
17 |
34,864,384 (GRCm39) |
nonsense |
probably null |
|
R0314:Fkbpl
|
UTSW |
17 |
34,865,026 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0540:Fkbpl
|
UTSW |
17 |
34,864,333 (GRCm39) |
missense |
probably benign |
|
R0607:Fkbpl
|
UTSW |
17 |
34,864,333 (GRCm39) |
missense |
probably benign |
|
R1866:Fkbpl
|
UTSW |
17 |
34,864,797 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4746:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R4795:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R4796:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R4839:Fkbpl
|
UTSW |
17 |
34,864,839 (GRCm39) |
missense |
probably benign |
|
R5268:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5290:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5357:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5358:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5359:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5360:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5361:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5363:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5406:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5435:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5533:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5535:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5722:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5723:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5760:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5861:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R5941:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6109:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6124:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6146:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6148:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6185:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6186:Fkbpl
|
UTSW |
17 |
34,865,153 (GRCm39) |
missense |
probably benign |
0.12 |
R6186:Fkbpl
|
UTSW |
17 |
34,864,303 (GRCm39) |
missense |
probably benign |
|
R6344:Fkbpl
|
UTSW |
17 |
34,864,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R6481:Fkbpl
|
UTSW |
17 |
34,864,388 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6564:Fkbpl
|
UTSW |
17 |
34,865,240 (GRCm39) |
missense |
probably benign |
0.42 |
R9800:Fkbpl
|
UTSW |
17 |
34,864,691 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTACCCTTTATGCCAATCTGG -3'
(R):5'- TCCTATCCTCGGAGGTGGATAC -3'
Sequencing Primer
(F):5'- GGGCCATTTAAAGGCCTTATACCG -3'
(R):5'- ATACGCTTCCCGGGACTC -3'
|
Posted On |
2015-07-21 |