Incidental Mutation 'R5722:Fkbpl'
| ID |
452294 |
| 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 |
043340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R5722 (G1)
|
| Quality Score |
225 |
|
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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
| Afg3l2 |
A |
G |
18: 67,573,269 (GRCm39) |
Y178H |
probably benign |
Het |
| Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
| Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
| Asic2 |
A |
T |
11: 81,858,806 (GRCm39) |
S69T |
probably benign |
Het |
| Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
| Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
| Cndp2 |
T |
A |
18: 84,686,203 (GRCm39) |
K461* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
| Hif1a |
T |
A |
12: 73,988,533 (GRCm39) |
D535E |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
| Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
| Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
| Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
| Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
| Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
| Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
| Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
| Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
| Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
| Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
| Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
| Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
probably null |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTG -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'
Sequencing Primer
(F):5'- AATTCTGGAATTTACATGGTTTCGG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation