Incidental Mutation 'R6186:Fkbpl'
| ID |
502202 |
| 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 |
044326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34865153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 307
(F307S)
|
| 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 benign
Transcript: ENSMUST00000036720
AA Change: F307S
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: F307S
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,298,502 (GRCm39) |
S409P |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,660,652 (GRCm39) |
V93A |
possibly damaging |
Het |
| Akap8l |
C |
T |
17: 32,552,018 (GRCm39) |
V420I |
probably benign |
Het |
| Ankrd36 |
T |
G |
11: 5,593,812 (GRCm39) |
D472E |
possibly damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,933 (GRCm39) |
E250G |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,258,650 (GRCm39) |
E579K |
possibly damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,875 (GRCm39) |
G780W |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,805,394 (GRCm39) |
E2419G |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,705,407 (GRCm39) |
S363R |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,862,340 (GRCm39) |
I581F |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,273,425 (GRCm39) |
T588N |
probably damaging |
Het |
| Cyp2a5 |
T |
C |
7: 26,542,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,291,203 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
C |
15: 99,845,206 (GRCm39) |
H346R |
unknown |
Het |
| Fam53b |
T |
A |
7: 132,317,445 (GRCm39) |
D399V |
possibly damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,591 (GRCm39) |
N9I |
probably benign |
Het |
| Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,676,449 (GRCm39) |
I594T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,772,863 (GRCm39) |
V719E |
probably damaging |
Het |
| Ldlr |
C |
T |
9: 21,635,055 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,377,968 (GRCm39) |
V1419A |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,453,126 (GRCm39) |
T340A |
possibly damaging |
Het |
| Mark2 |
A |
G |
19: 7,260,567 (GRCm39) |
V403A |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
| Mrtfa |
T |
C |
15: 80,900,853 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1h |
C |
T |
5: 114,457,864 (GRCm39) |
T125I |
possibly damaging |
Het |
| Ndufa8 |
A |
G |
2: 35,929,752 (GRCm39) |
V118A |
probably benign |
Het |
| Nphs1 |
A |
G |
7: 30,165,059 (GRCm39) |
T551A |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,784,948 (GRCm39) |
Y258C |
probably damaging |
Het |
| Or4k15c |
T |
A |
14: 50,321,982 (GRCm39) |
D52V |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,830 (GRCm39) |
L1343P |
probably benign |
Het |
| Pdcd1 |
T |
A |
1: 93,967,846 (GRCm39) |
R202* |
probably null |
Het |
| Pramel52-ps |
T |
A |
5: 94,531,835 (GRCm39) |
Y240N |
probably benign |
Het |
| Prkab2 |
A |
G |
3: 97,571,307 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
C |
7: 140,734,862 (GRCm39) |
|
probably benign |
Het |
| Rap1b |
G |
T |
10: 117,656,457 (GRCm39) |
F78L |
probably damaging |
Het |
| Rbl2 |
C |
T |
8: 91,833,358 (GRCm39) |
T711I |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,693 (GRCm39) |
I126T |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,851 (GRCm39) |
D238Y |
possibly damaging |
Het |
| Rnf123 |
A |
C |
9: 107,947,157 (GRCm39) |
S210A |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 44,001,990 (GRCm39) |
F1228L |
probably benign |
Het |
| Spata31f3 |
T |
C |
4: 42,872,000 (GRCm39) |
K125R |
possibly damaging |
Het |
| Sumo1 |
C |
A |
1: 59,683,729 (GRCm39) |
V38L |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 178,025,353 (GRCm39) |
S363N |
probably damaging |
Het |
| Tbx2 |
G |
T |
11: 85,728,672 (GRCm39) |
E352* |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,316,824 (GRCm39) |
N270D |
probably damaging |
Het |
| Topaz1 |
A |
T |
9: 122,577,891 (GRCm39) |
Q267L |
probably benign |
Het |
| Trp63 |
T |
C |
16: 25,695,483 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
T |
A |
8: 71,843,647 (GRCm39) |
T264S |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,423,383 (GRCm39) |
Y334C |
probably damaging |
Het |
| Wdr36 |
G |
C |
18: 32,985,954 (GRCm39) |
A553P |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,300,617 (GRCm39) |
I2378K |
probably damaging |
Het |
| Zfp276 |
T |
A |
8: 123,982,672 (GRCm39) |
Y145* |
probably null |
Het |
| Zfp458 |
T |
C |
13: 67,405,701 (GRCm39) |
E246G |
probably damaging |
Het |
| Zfp526 |
A |
G |
7: 24,925,561 (GRCm39) |
T607A |
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 |
|
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 |
34,864,303 (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'- GAACTACCCTTTATGCCAATCTG -3'
(R):5'- ACTCCCTGTAGGTCAGAACG -3'
Sequencing Primer
(F):5'- CCAATCTGGCTGCCTGC -3'
(R):5'- GAGTTCAAACAACTTCCTTCGGGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation