Incidental Mutation 'R6671:Fkbp14'
| ID |
527135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp14
|
| Ensembl Gene |
ENSMUSG00000038074 |
| Gene Name |
FK506 binding protein 14 |
| Synonyms |
FKBP22 |
| MMRRC Submission |
044791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
R6671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
54554589-54574293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54556662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 69
(Y69H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046520]
[ENSMUST00000117375]
[ENSMUST00000155047]
|
| AlphaFold |
P59024 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046520
AA Change: Y163H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046070
Gene: ENSMUSG00000038074
AA Change: Y163H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
38 |
132 |
2e-28 |
PFAM |
|
Pfam:EF-hand_7
|
116 |
207 |
3.7e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117375
AA Change: Y69H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112526
Gene: ENSMUSG00000038074
AA Change: Y69H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
1 |
38 |
1.1e-13 |
PFAM |
|
EFh
|
45 |
73 |
4.08e1 |
SMART |
|
EFh
|
89 |
117 |
2.56e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155047
|
| SMART Domains |
Protein: ENSMUSP00000114521
Gene: ENSMUSG00000038074
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
38 |
117 |
7.3e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (32/33) |
| 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 FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
T |
C |
6: 131,528,313 (GRCm39) |
|
probably null |
Het |
| Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
| Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,245,691 (GRCm39) |
L414P |
probably damaging |
Het |
| Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
| Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
| Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
| Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,492,995 (GRCm39) |
V93A |
possibly damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
| Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
| Tmprss13 |
C |
T |
9: 45,254,529 (GRCm39) |
T432M |
probably damaging |
Het |
| Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
| Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,321,577 (GRCm39) |
R395Q |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
Het |
|
| Other mutations in Fkbp14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02953:Fkbp14
|
APN |
6 |
54,556,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03056:Fkbp14
|
APN |
6 |
54,556,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4178:Fkbp14
|
UTSW |
6 |
54,566,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Fkbp14
|
UTSW |
6 |
54,562,930 (GRCm39) |
splice site |
probably benign |
|
|
R4975:Fkbp14
|
UTSW |
6 |
54,569,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5710:Fkbp14
|
UTSW |
6 |
54,566,255 (GRCm39) |
splice site |
probably null |
|
|
R5714:Fkbp14
|
UTSW |
6 |
54,562,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Fkbp14
|
UTSW |
6 |
54,562,837 (GRCm39) |
nonsense |
probably null |
|
|
R7606:Fkbp14
|
UTSW |
6 |
54,570,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7748:Fkbp14
|
UTSW |
6 |
54,572,505 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAAATGGCAGGCGCGTCC -3'
(R):5'- CCGCAAATTTAAATGAGCTGTG -3'
Sequencing Primer
(F):5'- CCTACAGTTCGTCGTGCACATATG -3'
(R):5'- CTTACCATGTAAGCTTGGGGACC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation