Incidental Mutation 'R6109:Fkbpl'
| ID |
484748 |
| 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 |
044259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R6109 (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: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,303 (GRCm39) |
Y950C |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,647,580 (GRCm39) |
C20R |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,621,560 (GRCm39) |
T984K |
probably damaging |
Het |
| Agxt2 |
C |
T |
15: 10,377,508 (GRCm39) |
T136I |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,941 (GRCm39) |
N68K |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,143,340 (GRCm39) |
D10V |
possibly damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,437 (GRCm39) |
I235F |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,171,407 (GRCm39) |
W1396R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,525,343 (GRCm39) |
T513A |
probably benign |
Het |
| Aym1 |
C |
T |
5: 113,505,407 (GRCm39) |
L9F |
unknown |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,076,306 (GRCm39) |
K95* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,122,804 (GRCm39) |
V202A |
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,045 (GRCm39) |
D152E |
probably benign |
Het |
| Cd2bp2 |
C |
T |
7: 126,793,987 (GRCm39) |
D101N |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,921,739 (GRCm39) |
D679N |
probably damaging |
Het |
| Clpx |
C |
T |
9: 65,207,234 (GRCm39) |
T44I |
probably benign |
Het |
| Cnnm4 |
T |
G |
1: 36,537,560 (GRCm39) |
V541G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,249,874 (GRCm39) |
I1035V |
possibly damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,147 (GRCm39) |
S62G |
probably benign |
Het |
| Dlk2 |
T |
A |
17: 46,612,623 (GRCm39) |
Y109N |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,807,955 (GRCm39) |
V363M |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,439,907 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Foxl3 |
C |
A |
5: 138,805,850 (GRCm39) |
Q6K |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,022,663 (GRCm39) |
F166L |
probably benign |
Het |
| Gm11271 |
G |
T |
13: 21,565,309 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
A |
3: 108,007,451 (GRCm39) |
Y290N |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,913 (GRCm39) |
I148F |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,385 (GRCm39) |
D83G |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 921,501 (GRCm39) |
W500R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,796 (GRCm39) |
F489I |
probably benign |
Het |
| Kmo |
C |
A |
1: 175,465,474 (GRCm39) |
A76E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,978,791 (GRCm39) |
T88A |
probably benign |
Het |
| Lce3b |
A |
G |
3: 92,840,994 (GRCm39) |
T30A |
unknown |
Het |
| Lcn11 |
A |
G |
2: 25,669,308 (GRCm39) |
H155R |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,889,481 (GRCm39) |
I129N |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,031,993 (GRCm39) |
K3E |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,429 (GRCm39) |
T229M |
probably damaging |
Het |
| Ms4a20 |
T |
C |
19: 11,079,276 (GRCm39) |
M131V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,655 (GRCm39) |
I1955V |
unknown |
Het |
| Naip1 |
A |
G |
13: 100,563,690 (GRCm39) |
C492R |
probably damaging |
Het |
| Ncor2 |
C |
T |
5: 125,132,910 (GRCm39) |
A26T |
probably damaging |
Het |
| Ngfr |
T |
G |
11: 95,468,883 (GRCm39) |
D165A |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,282,103 (GRCm39) |
S323R |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,346 (GRCm39) |
I47V |
probably benign |
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 |
| Or8g23 |
A |
G |
9: 38,971,492 (GRCm39) |
S157P |
probably benign |
Het |
| Pcdhb1 |
G |
T |
18: 37,398,306 (GRCm39) |
V86F |
possibly damaging |
Het |
| Pdk1 |
A |
G |
2: 71,713,850 (GRCm39) |
E165G |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,166,567 (GRCm39) |
V454I |
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,482,360 (GRCm39) |
G125D |
probably damaging |
Het |
| S100a16 |
T |
C |
3: 90,449,381 (GRCm39) |
F19L |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,788,388 (GRCm39) |
K190E |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,274,799 (GRCm39) |
M12K |
probably damaging |
Het |
| Tex101 |
T |
C |
7: 24,367,738 (GRCm39) |
T205A |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,916 (GRCm39) |
E147G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,144,675 (GRCm39) |
T1495A |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,638 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
T |
A |
17: 33,016,348 (GRCm39) |
|
probably null |
Het |
| Zscan10 |
T |
A |
17: 23,826,103 (GRCm39) |
F88L |
probably 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 |
|
|
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 |
|
|
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'- AGGAGTCTTAACTAGGAATTCTGG -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'
Sequencing Primer
(F):5'- AATTCTGGAATTTACATGGTTTCGG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation