Incidental Mutation 'R5437:Fkbp10'
| ID |
428437 |
| 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 |
043002-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100306523-100315650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 100311849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 174
(D174A)
|
| 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: D174A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: D174A
| 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: D174A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: D174A
| 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
|
| Meta Mutation Damage Score |
0.7749 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (63/65) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Acaca |
G |
A |
11: 84,237,646 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,377,720 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,684 (GRCm39) |
Q576K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,053,668 (GRCm39) |
N378I |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,255,730 (GRCm39) |
H871L |
probably damaging |
Het |
| Clic4 |
C |
G |
4: 134,944,557 (GRCm39) |
R206P |
probably damaging |
Het |
| Commd9 |
G |
A |
2: 101,731,373 (GRCm39) |
G186D |
probably damaging |
Het |
| Cpne9 |
C |
T |
6: 113,281,591 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
C |
T |
6: 55,077,718 (GRCm39) |
V196I |
probably damaging |
Het |
| Dctn5 |
T |
A |
7: 121,732,552 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,930 (GRCm39) |
R247Q |
probably benign |
Het |
| Dmrta1 |
G |
A |
4: 89,579,993 (GRCm39) |
G318R |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,868,499 (GRCm39) |
Y487* |
probably null |
Het |
| Eef1akmt3 |
A |
T |
10: 126,869,116 (GRCm39) |
N119K |
probably damaging |
Het |
| Eloa |
A |
T |
4: 135,740,196 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,996,604 (GRCm39) |
T1202M |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,913,982 (GRCm39) |
I205T |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,014,652 (GRCm39) |
F274L |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,266,540 (GRCm39) |
C969S |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,551,450 (GRCm39) |
E130G |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,615,479 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
C |
T |
14: 65,043,563 (GRCm39) |
R1788C |
probably damaging |
Het |
| Kif3a |
C |
T |
11: 53,489,553 (GRCm39) |
S135F |
probably damaging |
Het |
| Klf5 |
C |
T |
14: 99,538,895 (GRCm39) |
R23* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,023 (GRCm39) |
I11V |
probably benign |
Het |
| Mpp7 |
A |
T |
18: 7,458,930 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
T |
C |
15: 73,659,818 (GRCm39) |
I338V |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,096,757 (GRCm39) |
N126S |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 112,905,439 (GRCm39) |
A2053E |
possibly damaging |
Het |
| Naip6 |
A |
T |
13: 100,439,812 (GRCm39) |
C318* |
probably null |
Het |
| Ndufs7 |
C |
T |
10: 80,090,758 (GRCm39) |
R116C |
possibly damaging |
Het |
| Odr4 |
T |
G |
1: 150,239,269 (GRCm39) |
I385L |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,859,935 (GRCm39) |
M30T |
probably benign |
Het |
| Pnkd |
T |
C |
1: 74,388,896 (GRCm39) |
V214A |
possibly damaging |
Het |
| Popdc2 |
T |
G |
16: 38,183,263 (GRCm39) |
V82G |
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,587,739 (GRCm39) |
L2541F |
possibly damaging |
Het |
| Ptpn9 |
A |
T |
9: 56,927,321 (GRCm39) |
H66L |
possibly damaging |
Het |
| Pygm |
T |
A |
19: 6,440,412 (GRCm39) |
N397K |
probably damaging |
Het |
| Rabgap1l |
T |
A |
1: 160,549,717 (GRCm39) |
E324D |
probably damaging |
Het |
| Rnf6 |
G |
A |
5: 146,147,090 (GRCm39) |
R643C |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,506,690 (GRCm39) |
Y1400H |
probably damaging |
Het |
| Septin10 |
T |
A |
10: 59,012,781 (GRCm39) |
N279I |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,274,079 (GRCm39) |
Y415F |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,241,040 (GRCm39) |
T449A |
probably benign |
Het |
| Tcam1 |
C |
T |
11: 106,176,249 (GRCm39) |
T325M |
probably damaging |
Het |
| Tctn1 |
A |
G |
5: 122,396,942 (GRCm39) |
I147T |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,650,230 (GRCm39) |
H30Q |
probably benign |
Het |
| Tmem109 |
A |
G |
19: 10,849,378 (GRCm39) |
I159T |
probably damaging |
Het |
| Tmem40 |
C |
T |
6: 115,735,992 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,348,753 (GRCm39) |
P122S |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,733 (GRCm39) |
D1038G |
probably benign |
Het |
| Ubr2 |
C |
G |
17: 47,274,623 (GRCm39) |
E852D |
probably benign |
Het |
| Ubr3 |
A |
T |
2: 69,774,734 (GRCm39) |
N518I |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,693,737 (GRCm39) |
L2596R |
possibly damaging |
Het |
| Zcchc3 |
G |
A |
2: 152,256,652 (GRCm39) |
P16S |
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 |
|
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 |
|
R5706:Fkbp10
|
UTSW |
11 |
100,311,849 (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'- GACTTGTGTAAACCCCACCTC -3'
(R):5'- ATGCCTTTGATCAGCCAACCAG -3'
Sequencing Primer
(F):5'- GTGTAAACCCCACCTCTGCTG -3'
(R):5'- ATGTAGGTGTCATAAGTGCCTCCC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation