Incidental Mutation 'R6443:Fkbp5'
| ID |
519109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp5
|
| Ensembl Gene |
ENSMUSG00000024222 |
| Gene Name |
FK506 binding protein 5 |
| Synonyms |
D17Ertd592e, FKBP51, Dit1 |
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28617727-28705123 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28648253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 112
(A112D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079413]
[ENSMUST00000114792]
[ENSMUST00000153744]
[ENSMUST00000177939]
|
| AlphaFold |
Q64378 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079413
AA Change: A112D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: A112D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
7.1e-31 |
PFAM |
|
Pfam:FKBP_C
|
158 |
248 |
2.1e-14 |
PFAM |
|
TPR
|
268 |
301 |
9.48e1 |
SMART |
|
TPR
|
317 |
350 |
1.45e-6 |
SMART |
|
TPR
|
351 |
384 |
1.23e-4 |
SMART |
|
low complexity region
|
421 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114792
AA Change: A112D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: A112D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
7.1e-31 |
PFAM |
|
Pfam:FKBP_C
|
158 |
248 |
2.1e-14 |
PFAM |
|
TPR
|
268 |
301 |
9.48e1 |
SMART |
|
TPR
|
317 |
350 |
1.45e-6 |
SMART |
|
TPR
|
351 |
384 |
1.23e-4 |
SMART |
|
low complexity region
|
421 |
440 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143685
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153744
AA Change: A112D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: A112D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
8e-32 |
PFAM |
|
internal_repeat_1
|
138 |
182 |
6.75e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177939
AA Change: A112D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: A112D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
43 |
135 |
8.8e-32 |
PFAM |
|
Pfam:FKBP_C
|
158 |
248 |
1.8e-15 |
PFAM |
|
TPR
|
268 |
301 |
9.48e1 |
SMART |
|
TPR
|
317 |
350 |
1.45e-6 |
SMART |
|
TPR
|
351 |
384 |
1.23e-4 |
SMART |
|
low complexity region
|
421 |
440 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele are normal and fertile. Mice homozygous for another knock-out allele exhibit decreased depression-related behavior and increased anxiety-related behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,600,442 (GRCm39) |
T75M |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
probably damaging |
Het |
|
| Other mutations in Fkbp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Fkbp5
|
APN |
17 |
28,620,020 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03104:Fkbp5
|
APN |
17 |
28,634,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Fkbp5
|
UTSW |
17 |
28,647,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0242:Fkbp5
|
UTSW |
17 |
28,647,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0531:Fkbp5
|
UTSW |
17 |
28,657,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Fkbp5
|
UTSW |
17 |
28,621,729 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1853:Fkbp5
|
UTSW |
17 |
28,648,281 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2102:Fkbp5
|
UTSW |
17 |
28,625,162 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2194:Fkbp5
|
UTSW |
17 |
28,657,001 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3522:Fkbp5
|
UTSW |
17 |
28,634,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4959:Fkbp5
|
UTSW |
17 |
28,647,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Fkbp5
|
UTSW |
17 |
28,647,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Fkbp5
|
UTSW |
17 |
28,656,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6053:Fkbp5
|
UTSW |
17 |
28,647,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6989:Fkbp5
|
UTSW |
17 |
28,634,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7027:Fkbp5
|
UTSW |
17 |
28,631,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Fkbp5
|
UTSW |
17 |
28,634,999 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7635:Fkbp5
|
UTSW |
17 |
28,647,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7708:Fkbp5
|
UTSW |
17 |
28,657,071 (GRCm39) |
missense |
probably benign |
|
|
R7862:Fkbp5
|
UTSW |
17 |
28,631,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Fkbp5
|
UTSW |
17 |
28,648,213 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8435:Fkbp5
|
UTSW |
17 |
28,621,752 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8471:Fkbp5
|
UTSW |
17 |
28,634,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9267:Fkbp5
|
UTSW |
17 |
28,629,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGATGTGTGGGAAACAATTC -3'
(R):5'- GCTGAGTTTCTCAAGTTGGCAAG -3'
Sequencing Primer
(F):5'- TGTGTGGGAAACAATTCAAGAAGCC -3'
(R):5'- TTTCTCAAGTTGGCAAGAAAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation