Incidental Mutation 'R0314:Fkbpl'
| ID |
25388 |
| 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 |
038524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R0314 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34863738-34865298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34865026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 265
(H265Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000036720
AA Change: H265Y
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: H265Y
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih2 |
T |
C |
9: 108,485,878 (GRCm39) |
N345D |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,514,095 (GRCm39) |
S298L |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,317,997 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,509,212 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
T |
5: 86,185,230 (GRCm39) |
M427K |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,624,262 (GRCm39) |
C57S |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,397,342 (GRCm39) |
Y77C |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,919,865 (GRCm39) |
K1187E |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,687,031 (GRCm39) |
E32A |
probably damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,496 (GRCm39) |
T715I |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,889,128 (GRCm39) |
I82K |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,163 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra5 |
T |
C |
6: 129,880,553 (GRCm39) |
Y115C |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,438 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
G |
9: 123,345,892 (GRCm39) |
I557S |
probably benign |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,343 (GRCm39) |
D3398E |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,176,736 (GRCm39) |
S1005P |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,519 (GRCm39) |
D11E |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,388 (GRCm39) |
D72G |
probably damaging |
Het |
| Pebp4 |
G |
T |
14: 70,297,103 (GRCm39) |
S214I |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,161,443 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,848,875 (GRCm39) |
Q230L |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,753,525 (GRCm39) |
T784M |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,303,995 (GRCm39) |
I270T |
probably benign |
Het |
| Spag4 |
C |
T |
2: 155,909,229 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,660,841 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,096,331 (GRCm39) |
E1430K |
possibly damaging |
Het |
| Timd5 |
G |
A |
11: 46,419,364 (GRCm39) |
C60Y |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,265,946 (GRCm39) |
V956E |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,043,991 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,997,431 (GRCm39) |
S1741P |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,980 (GRCm39) |
T109A |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,784,985 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,318,388 (GRCm39) |
|
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,094,076 (GRCm39) |
K195N |
probably damaging |
Het |
| Zfp683 |
A |
G |
4: 133,786,052 (GRCm39) |
Y393C |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,133,085 (GRCm39) |
S48P |
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 |
|
|
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 |
|
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'- GCTAGGCTCCAAATGCCAAGTGTTG -3'
(R):5'- GCGGGTTCCTGTCTCCTTTAATCAG -3'
Sequencing Primer
(F):5'- AGACTGGATTCCTTCACCAATGG -3'
(R):5'- CCTTTAATCAGCTAAACATCTTGCG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation