Incidental Mutation 'IGL00164:Fkbp8'
| ID |
1394 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fkbp8
|
| Ensembl Gene |
ENSMUSG00000019428 |
| Gene Name |
FK506 binding protein 8 |
| Synonyms |
Fkbp38, 38kDa |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70980374-70987978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70987211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 358
(M358V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075491]
[ENSMUST00000119353]
[ENSMUST00000119425]
[ENSMUST00000119698]
[ENSMUST00000210155]
[ENSMUST00000134893]
|
| AlphaFold |
O35465 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075491
AA Change: M358V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: M358V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
103 |
192 |
1.4e-16 |
PFAM |
|
Blast:TPR
|
212 |
245 |
2e-12 |
BLAST |
|
low complexity region
|
253 |
259 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
263 |
296 |
5.4e-7 |
PFAM |
|
Pfam:TPR_2
|
263 |
296 |
3.8e-5 |
PFAM |
|
Pfam:TPR_16
|
267 |
331 |
3e-11 |
PFAM |
|
Pfam:TPR_9
|
270 |
344 |
1.3e-7 |
PFAM |
|
Pfam:TPR_19
|
273 |
340 |
1.6e-8 |
PFAM |
|
Pfam:TPR_1
|
297 |
330 |
5.4e-8 |
PFAM |
|
Pfam:TPR_2
|
297 |
330 |
1.3e-7 |
PFAM |
|
Pfam:TPR_8
|
297 |
330 |
9e-7 |
PFAM |
|
Pfam:TPR_14
|
297 |
340 |
2.1e-7 |
PFAM |
|
transmembrane domain
|
381 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119353
AA Change: M357V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: M357V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
103 |
191 |
1.3e-15 |
PFAM |
|
Pfam:TPR_11
|
209 |
293 |
3.4e-9 |
PFAM |
|
Pfam:TPR_1
|
262 |
295 |
6.5e-7 |
PFAM |
|
Pfam:TPR_2
|
262 |
295 |
3.9e-5 |
PFAM |
|
Pfam:TPR_16
|
266 |
330 |
1.4e-11 |
PFAM |
|
Pfam:TPR_9
|
269 |
343 |
1.5e-7 |
PFAM |
|
Pfam:TPR_19
|
272 |
339 |
8.6e-9 |
PFAM |
|
Pfam:TPR_11
|
294 |
358 |
2.6e-9 |
PFAM |
|
Pfam:TPR_1
|
296 |
329 |
6.6e-8 |
PFAM |
|
Pfam:TPR_2
|
296 |
329 |
1.3e-7 |
PFAM |
|
Pfam:TPR_8
|
296 |
330 |
5.5e-7 |
PFAM |
|
transmembrane domain
|
380 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119425
|
| SMART Domains |
Protein: ENSMUSP00000113528
Gene: ENSMUSG00000019428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119698
AA Change: M358V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: M358V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
103 |
192 |
6.4e-16 |
PFAM |
|
Pfam:TPR_11
|
210 |
294 |
3.4e-9 |
PFAM |
|
Pfam:TPR_1
|
263 |
296 |
6.5e-7 |
PFAM |
|
Pfam:TPR_2
|
263 |
296 |
3.9e-5 |
PFAM |
|
Pfam:TPR_16
|
267 |
331 |
1.4e-11 |
PFAM |
|
Pfam:TPR_9
|
270 |
344 |
1.5e-7 |
PFAM |
|
Pfam:TPR_19
|
273 |
340 |
8.6e-9 |
PFAM |
|
Pfam:TPR_11
|
295 |
359 |
2.6e-9 |
PFAM |
|
Pfam:TPR_1
|
297 |
330 |
6.6e-8 |
PFAM |
|
Pfam:TPR_2
|
297 |
330 |
1.3e-7 |
PFAM |
|
Pfam:TPR_8
|
297 |
331 |
5.6e-7 |
PFAM |
|
transmembrane domain
|
381 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210155
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134893
|
| Coding Region Coverage |
|
| 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 is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, ventralization of neural cell fates, caudal neural tube dilation, and small eyes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Fkbp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01832:Fkbp8
|
APN |
8 |
70,984,195 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0738:Fkbp8
|
UTSW |
8 |
70,982,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1631:Fkbp8
|
UTSW |
8 |
70,984,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Fkbp8
|
UTSW |
8 |
70,983,685 (GRCm39) |
splice site |
probably null |
|
|
R3951:Fkbp8
|
UTSW |
8 |
70,985,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3953:Fkbp8
|
UTSW |
8 |
70,987,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3956:Fkbp8
|
UTSW |
8 |
70,987,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3957:Fkbp8
|
UTSW |
8 |
70,987,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4965:Fkbp8
|
UTSW |
8 |
70,984,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6655:Fkbp8
|
UTSW |
8 |
70,985,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Fkbp8
|
UTSW |
8 |
70,983,644 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8454:Fkbp8
|
UTSW |
8 |
70,984,413 (GRCm39) |
splice site |
probably null |
|
|
R9612:Fkbp8
|
UTSW |
8 |
70,984,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9726:Fkbp8
|
UTSW |
8 |
70,987,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2011-07-12 |
Incidental Mutation