Incidental Mutation 'R6148:Fkbpl'
ID |
489040 |
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 |
044295-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R6148 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34864303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 24
(A24T)
|
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: A24T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037273 Gene: ENSMUSG00000033739 AA Change: A24T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
95% (61/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,992,612 (GRCm39) |
T689A |
probably damaging |
Het |
Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
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 |
|
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'- GCACTACGAGGAGTCTTAACTAG -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'
Sequencing Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
|
Posted On |
2017-10-10 |