Incidental Mutation 'R5359:Fkbpl'
| ID |
424257 |
| 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 |
042938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R5359 (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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5b1 |
T |
A |
19: 5,619,126 (GRCm39) |
I182N |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,840,762 (GRCm39) |
C701* |
probably null |
Het |
| Bcr |
T |
A |
10: 75,001,917 (GRCm39) |
F940L |
probably damaging |
Het |
| Cav2 |
A |
T |
6: 17,287,064 (GRCm39) |
|
probably benign |
Het |
| Cdk2 |
T |
C |
10: 128,539,857 (GRCm39) |
|
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,446 (GRCm39) |
A243V |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,296 (GRCm39) |
V99D |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,497,169 (GRCm39) |
E1110G |
probably damaging |
Het |
| Dhx30 |
T |
C |
9: 109,922,203 (GRCm39) |
N160D |
probably damaging |
Het |
| Dnai7 |
T |
G |
6: 145,142,618 (GRCm39) |
T120P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,890,472 (GRCm39) |
M268T |
possibly damaging |
Het |
| Dspp |
T |
A |
5: 104,323,752 (GRCm39) |
D298E |
probably damaging |
Het |
| Elane |
A |
G |
10: 79,722,870 (GRCm39) |
E92G |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,164 (GRCm39) |
|
probably null |
Het |
| Gm1968 |
A |
T |
16: 29,777,617 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,265,004 (GRCm39) |
V2729E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,416,707 (GRCm39) |
T106A |
probably benign |
Het |
| Kcnj6 |
G |
C |
16: 94,633,312 (GRCm39) |
Y248* |
probably null |
Het |
| Mllt3 |
A |
G |
4: 87,759,164 (GRCm39) |
S295P |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,437 (GRCm39) |
T192P |
probably damaging |
Het |
| Pex11b |
G |
A |
3: 96,551,229 (GRCm39) |
C224Y |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,121 (GRCm39) |
Y79C |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,974,178 (GRCm39) |
Y88C |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,480,354 (GRCm39) |
N99S |
probably benign |
Het |
| Pyroxd1 |
T |
G |
6: 142,307,717 (GRCm39) |
Y496D |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,689,565 (GRCm39) |
L68P |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,015,322 (GRCm39) |
M132L |
probably damaging |
Het |
| RP24-187P11.4 |
T |
G |
9: 109,349,944 (GRCm39) |
|
noncoding transcript |
Het |
| Rsph4a |
A |
G |
10: 33,784,232 (GRCm39) |
T285A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,186 (GRCm39) |
|
probably null |
Het |
| Slc30a1 |
T |
A |
1: 191,641,865 (GRCm39) |
*504R |
probably null |
Het |
| Spcs1 |
T |
C |
14: 30,722,074 (GRCm39) |
R156G |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,268,178 (GRCm39) |
F556L |
probably damaging |
Het |
| Thumpd2 |
C |
T |
17: 81,334,206 (GRCm39) |
V461M |
probably benign |
Het |
| Timm50 |
A |
G |
7: 28,007,592 (GRCm39) |
L158P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,649,731 (GRCm39) |
|
silent |
Het |
| Ttn |
G |
A |
2: 76,726,147 (GRCm39) |
Q1807* |
probably null |
Het |
| Zdhhc14 |
A |
G |
17: 5,543,821 (GRCm39) |
I34V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,394,814 (GRCm39) |
M506K |
possibly damaging |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACTACGAGGAGTCTTAACTAGG -3'
(R):5'- AGGTGCTCTGCCATCTCATTG -3'
Sequencing Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation