Incidental Mutation 'IGL03347:Fkbpl'
| ID |
419544 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fkbpl
|
| Ensembl Gene |
ENSMUSG00000033739 |
| Gene Name |
FK506 binding protein-like |
| Synonyms |
WAF-1/CIP1 stabilizing protein 39, Ppiase-X, NG7, DIR1, WISp39 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
IGL03347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 34865287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133960
(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 benign
Transcript: ENSMUST00000036720
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,870,534 (GRCm39) |
S670T |
possibly damaging |
Het |
| Adamts9 |
G |
T |
6: 92,864,413 (GRCm39) |
Y185* |
probably null |
Het |
| Ahcyl |
A |
G |
16: 45,974,852 (GRCm39) |
V175A |
probably benign |
Het |
| Arid3a |
T |
A |
10: 79,787,113 (GRCm39) |
S512R |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,214 (GRCm39) |
V524A |
probably damaging |
Het |
| Camk2d |
A |
G |
3: 126,590,550 (GRCm39) |
T254A |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,208,724 (GRCm39) |
Q923K |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 92,991,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,891,992 (GRCm39) |
L160P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 110,065,973 (GRCm39) |
D749V |
possibly damaging |
Het |
| Cox6a2 |
A |
T |
7: 127,804,900 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
A |
T |
2: 155,921,096 (GRCm39) |
Y65N |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,243,199 (GRCm39) |
D8G |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,259,892 (GRCm39) |
S140P |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,104 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,146,737 (GRCm39) |
R2720G |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,664 (GRCm39) |
L60P |
probably damaging |
Het |
| Iftap |
A |
G |
2: 101,413,864 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,239,321 (GRCm39) |
S287T |
possibly damaging |
Het |
| Kat2b |
G |
A |
17: 53,931,379 (GRCm39) |
|
probably null |
Het |
| Kazald1 |
A |
G |
19: 45,066,855 (GRCm39) |
D218G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,814,005 (GRCm39) |
E216G |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,781,016 (GRCm39) |
V25L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,120 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
T |
17: 35,439,559 (GRCm39) |
V318E |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,177 (GRCm39) |
|
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,151 (GRCm39) |
V134A |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,019,081 (GRCm39) |
V800A |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,972 (GRCm39) |
S390L |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,307,880 (GRCm39) |
V729I |
possibly damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,187,207 (GRCm39) |
M288L |
probably benign |
Het |
| Slc26a1 |
C |
A |
5: 108,821,676 (GRCm39) |
G71V |
probably damaging |
Het |
| Srcin1 |
A |
T |
11: 97,416,170 (GRCm39) |
S1021T |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,123,011 (GRCm39) |
M124K |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,705,633 (GRCm39) |
F1157S |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,285,390 (GRCm39) |
S424P |
probably damaging |
Het |
| Trim37 |
G |
A |
11: 87,092,447 (GRCm39) |
R752Q |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,734,625 (GRCm39) |
Q238L |
probably damaging |
Het |
| Vmn2r23 |
C |
A |
6: 123,681,333 (GRCm39) |
H80Q |
probably benign |
Het |
| Wnt9a |
A |
T |
11: 59,221,740 (GRCm39) |
T213S |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,490 (GRCm39) |
Q154L |
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 |
|
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 |
|
R4483:Fkbpl
|
UTSW |
17 |
34,865,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation