Incidental Mutation 'R6564:Fkbpl'
| ID |
522388 |
| 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 |
044688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34865240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 336
(A336E)
|
| 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: A336E
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: A336E
| 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 |
0.2090 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 4833420G17Rik |
T |
A |
13: 119,622,613 (GRCm39) |
|
probably null |
Het |
| 4931429L15Rik |
C |
A |
9: 46,218,202 (GRCm39) |
D179Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,034,031 (GRCm39) |
L2233Q |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,349,009 (GRCm39) |
E834V |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,548,834 (GRCm39) |
Y1318C |
probably damaging |
Het |
| Adam15 |
C |
A |
3: 89,254,519 (GRCm39) |
R121L |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,116,351 (GRCm39) |
M1588K |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,078,491 (GRCm39) |
S1849P |
probably damaging |
Het |
| Aoc1l1 |
T |
C |
6: 48,954,509 (GRCm39) |
V549A |
probably benign |
Het |
| Bag6 |
T |
C |
17: 35,359,347 (GRCm39) |
S213P |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,102,098 (GRCm39) |
V65A |
probably benign |
Het |
| Chn1 |
T |
A |
2: 73,448,385 (GRCm39) |
I203F |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,770,165 (GRCm39) |
E226V |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,797,442 (GRCm39) |
E1302G |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,367,891 (GRCm39) |
A2759S |
probably benign |
Het |
| Dtx1 |
T |
A |
5: 120,833,082 (GRCm39) |
T119S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ezr |
C |
T |
17: 7,010,246 (GRCm39) |
V268M |
probably damaging |
Het |
| Fbxl15 |
T |
C |
19: 46,317,777 (GRCm39) |
V153A |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,330 (GRCm39) |
T200A |
possibly damaging |
Het |
| H2ax |
T |
C |
9: 44,246,209 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,422,862 (GRCm39) |
M1R |
probably null |
Het |
| Kcnt1 |
A |
C |
2: 25,801,063 (GRCm39) |
D1045A |
probably benign |
Het |
| Kdm4a |
C |
A |
4: 118,034,636 (GRCm39) |
A32S |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,726,671 (GRCm39) |
V444E |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,030,825 (GRCm39) |
T414A |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 151,990,959 (GRCm39) |
N367K |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,185 (GRCm39) |
D49G |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,398 (GRCm39) |
L284P |
probably damaging |
Het |
| Or7g33 |
G |
A |
9: 19,448,506 (GRCm39) |
T240I |
possibly damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,285 (GRCm39) |
S15P |
probably benign |
Het |
| Pbld1 |
T |
A |
10: 62,907,806 (GRCm39) |
I224N |
possibly damaging |
Het |
| Pih1d1 |
A |
T |
7: 44,809,243 (GRCm39) |
R276W |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,914,153 (GRCm39) |
V1292L |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,171,285 (GRCm39) |
|
probably null |
Het |
| Rbm6 |
T |
C |
9: 107,710,697 (GRCm39) |
Y498C |
probably damaging |
Het |
| Reps1 |
T |
A |
10: 17,998,140 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,208 (GRCm39) |
I154N |
possibly damaging |
Het |
| Slc4a5 |
T |
G |
6: 83,257,042 (GRCm39) |
F616V |
possibly damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,401 (GRCm39) |
T798S |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,355 (GRCm39) |
I102K |
possibly damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,131,270 (GRCm39) |
I21K |
probably damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,052 (GRCm39) |
I842L |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,002 (GRCm39) |
K360N |
probably benign |
Het |
| Tmem45b |
C |
G |
9: 31,339,301 (GRCm39) |
W138S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,291,344 (GRCm39) |
E40G |
probably damaging |
Het |
| Traj40 |
T |
C |
14: 54,415,399 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
A |
G |
7: 142,626,507 (GRCm39) |
S125P |
probably damaging |
Het |
| Ttc3 |
G |
T |
16: 94,243,470 (GRCm39) |
C1158F |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,011,715 (GRCm39) |
I74T |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,169,197 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
G |
T |
14: 79,704,868 (GRCm39) |
H201N |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,485,499 (GRCm39) |
S821P |
probably benign |
Het |
| Wsb2 |
A |
T |
5: 117,508,625 (GRCm39) |
|
probably null |
Het |
| Zic5 |
A |
G |
14: 122,696,833 (GRCm39) |
L594P |
unknown |
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 |
34,865,153 (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 |
|
R9800:Fkbpl
|
UTSW |
17 |
34,864,691 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGAACTACCCTTTATGCCAATC -3'
(R):5'- TATCCTCGGAGGTGGATACG -3'
Sequencing Primer
(F):5'- TGCCAGTTGCTGCTAGGACAC -3'
(R):5'- ATACGCTTCCCGGGACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation