Incidental Mutation 'R6124:Fkbpl'
ID |
485892 |
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 |
044271-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R6124 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 98.0%
- 20x: 94.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
C |
5: 113,331,622 (GRCm39) |
N864S |
probably benign |
Het |
Ank2 |
C |
T |
3: 127,041,800 (GRCm39) |
V35M |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,142,185 (GRCm39) |
M368T |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,365,515 (GRCm39) |
T413M |
probably damaging |
Het |
Cxcr4 |
A |
G |
1: 128,517,397 (GRCm39) |
L86P |
probably damaging |
Het |
Cyfip1 |
A |
G |
7: 55,547,691 (GRCm39) |
Y598C |
probably benign |
Het |
Epg5 |
A |
G |
18: 78,073,260 (GRCm39) |
N2428D |
probably benign |
Het |
Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
Gm5422 |
A |
G |
10: 31,125,396 (GRCm39) |
|
noncoding transcript |
Het |
Gm9913 |
T |
A |
2: 125,348,393 (GRCm39) |
|
probably benign |
Het |
Hgfac |
A |
G |
5: 35,201,728 (GRCm39) |
N287S |
probably benign |
Het |
Hook3 |
A |
T |
8: 26,549,300 (GRCm39) |
N181K |
probably benign |
Het |
Hormad1 |
A |
G |
3: 95,483,613 (GRCm39) |
T142A |
probably benign |
Het |
Klrh1 |
A |
T |
6: 129,745,098 (GRCm39) |
F166Y |
probably benign |
Het |
Kplce |
G |
T |
3: 92,776,365 (GRCm39) |
P106Q |
probably damaging |
Het |
Lonrf1 |
T |
A |
8: 36,696,354 (GRCm39) |
N565I |
probably damaging |
Het |
Mast1 |
A |
G |
8: 85,651,936 (GRCm39) |
S349P |
probably benign |
Het |
Mcee |
T |
A |
7: 64,050,023 (GRCm39) |
N51K |
probably damaging |
Het |
Mfsd6 |
A |
C |
1: 52,747,411 (GRCm39) |
F485V |
probably damaging |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Nlrp6 |
T |
A |
7: 140,503,160 (GRCm39) |
V422E |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,000,610 (GRCm39) |
H42Q |
probably benign |
Het |
Obscn |
A |
T |
11: 58,969,870 (GRCm39) |
S91T |
probably benign |
Het |
Or10ak13 |
C |
A |
4: 118,639,392 (GRCm39) |
C130F |
probably damaging |
Het |
Or10j2 |
T |
A |
1: 173,097,846 (GRCm39) |
Y35N |
probably damaging |
Het |
Or13a20 |
A |
T |
7: 140,232,507 (GRCm39) |
D205V |
probably damaging |
Het |
Or5p72 |
A |
T |
7: 108,022,725 (GRCm39) |
|
probably null |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,446 (GRCm39) |
I154V |
probably benign |
Het |
Papss2 |
T |
A |
19: 32,614,528 (GRCm39) |
N81K |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,309,696 (GRCm39) |
I147T |
possibly damaging |
Het |
Ptgfrn |
C |
T |
3: 100,980,405 (GRCm39) |
E312K |
probably damaging |
Het |
Serpinb1b |
T |
C |
13: 33,277,796 (GRCm39) |
V343A |
probably benign |
Het |
Sis |
T |
C |
3: 72,860,544 (GRCm39) |
N261S |
possibly damaging |
Het |
Slc41a2 |
T |
C |
10: 83,133,116 (GRCm39) |
N310S |
probably damaging |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Snrnp48 |
T |
A |
13: 38,400,439 (GRCm39) |
I182N |
possibly damaging |
Het |
Tppp2 |
A |
T |
14: 52,156,937 (GRCm39) |
T105S |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Vmn1r19 |
A |
C |
6: 57,381,602 (GRCm39) |
M52L |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,464,321 (GRCm39) |
R656S |
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 |
|
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'- ACGAGGAGTCTTAACTAGGAATTC -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'
Sequencing Primer
(F):5'- AATTCTGGAATTTACATGGTTTCGG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
|
Posted On |
2017-08-16 |