Incidental Mutation 'IGL01085:Fkbpl'
| ID |
53033 |
| 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 # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34864718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 162
(L162P)
|
| 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: L162P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: L162P
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
| Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
Het |
|
| Other mutations in Fkbpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation