Incidental Mutation 'R5706:Fkbp10'
ID |
451985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fkbp10
|
Ensembl Gene |
ENSMUSG00000001555 |
Gene Name |
FK506 binding protein 10 |
Synonyms |
Fkbp-rs1, Fkbp1-rs, FKBP65, Fkbp6, 65kDa |
MMRRC Submission |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100306523-100315650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100311849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 174
(D174G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001595
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001595]
[ENSMUST00000107398]
[ENSMUST00000107399]
[ENSMUST00000107400]
|
AlphaFold |
Q61576 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001595
AA Change: D174G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001595 Gene: ENSMUSG00000001555 AA Change: D174G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
54 |
146 |
5.4e-30 |
PFAM |
Pfam:FKBP_C
|
166 |
258 |
4e-29 |
PFAM |
Pfam:FKBP_C
|
278 |
370 |
2.3e-28 |
PFAM |
Pfam:FKBP_C
|
391 |
482 |
6.2e-26 |
PFAM |
EFh
|
503 |
528 |
2.16e0 |
SMART |
EFh
|
545 |
573 |
2.04e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107398
|
SMART Domains |
Protein: ENSMUSP00000103021 Gene: ENSMUSG00000017176
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107399
|
SMART Domains |
Protein: ENSMUSP00000103022 Gene: ENSMUSG00000017176
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107400
AA Change: D174G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103023 Gene: ENSMUSG00000001555 AA Change: D174G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:FKBP_C
|
54 |
146 |
1.4e-29 |
PFAM |
Pfam:FKBP_C
|
166 |
258 |
2e-29 |
PFAM |
Pfam:FKBP_C
|
279 |
370 |
4.9e-26 |
PFAM |
EFh
|
391 |
416 |
2.16e0 |
SMART |
EFh
|
433 |
461 |
2.04e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125616
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134815
|
SMART Domains |
Protein: ENSMUSP00000123577 Gene: ENSMUSG00000001555
Domain | Start | End | E-Value | Type |
Pfam:FKBP_C
|
34 |
65 |
1.6e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139084
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009] PHENOTYPE: Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,220 (GRCm39) |
V196A |
probably benign |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
probably benign |
Het |
|
Other mutations in Fkbp10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00962:Fkbp10
|
APN |
11 |
100,312,643 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02390:Fkbp10
|
APN |
11 |
100,306,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Fkbp10
|
APN |
11 |
100,306,782 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Fkbp10
|
APN |
11 |
100,306,803 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02737:Fkbp10
|
APN |
11 |
100,313,481 (GRCm39) |
missense |
probably benign |
0.25 |
IGL03143:Fkbp10
|
APN |
11 |
100,313,580 (GRCm39) |
missense |
probably benign |
0.06 |
R0479:Fkbp10
|
UTSW |
11 |
100,306,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Fkbp10
|
UTSW |
11 |
100,314,757 (GRCm39) |
missense |
probably benign |
0.20 |
R1817:Fkbp10
|
UTSW |
11 |
100,306,715 (GRCm39) |
missense |
probably benign |
0.13 |
R1819:Fkbp10
|
UTSW |
11 |
100,306,715 (GRCm39) |
missense |
probably benign |
0.13 |
R1831:Fkbp10
|
UTSW |
11 |
100,314,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Fkbp10
|
UTSW |
11 |
100,306,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Fkbp10
|
UTSW |
11 |
100,312,499 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3758:Fkbp10
|
UTSW |
11 |
100,313,451 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5163:Fkbp10
|
UTSW |
11 |
100,313,925 (GRCm39) |
missense |
probably benign |
0.03 |
R5437:Fkbp10
|
UTSW |
11 |
100,311,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R5666:Fkbp10
|
UTSW |
11 |
100,314,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5696:Fkbp10
|
UTSW |
11 |
100,314,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Fkbp10
|
UTSW |
11 |
100,314,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7084:Fkbp10
|
UTSW |
11 |
100,312,129 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7405:Fkbp10
|
UTSW |
11 |
100,306,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7780:Fkbp10
|
UTSW |
11 |
100,312,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R8237:Fkbp10
|
UTSW |
11 |
100,306,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R8886:Fkbp10
|
UTSW |
11 |
100,312,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Fkbp10
|
UTSW |
11 |
100,313,936 (GRCm39) |
missense |
probably benign |
0.19 |
R9484:Fkbp10
|
UTSW |
11 |
100,313,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R9505:Fkbp10
|
UTSW |
11 |
100,306,826 (GRCm39) |
nonsense |
probably null |
|
R9590:Fkbp10
|
UTSW |
11 |
100,306,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGTGTAAACCCCACCTC -3'
(R):5'- CATGCCTTTGATCAGCCAAC -3'
Sequencing Primer
(F):5'- GTGTAAACCCCACCTCTGCTG -3'
(R):5'- ATGTAGGTGTCATAAGTGCCTCCC -3'
|
Posted On |
2017-01-03 |