Incidental Mutation 'IGL01832:Fkbp8'
| ID |
154820 |
| 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 # |
IGL01832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70980374-70987978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70984195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 182
(H182R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075491]
[ENSMUST00000117580]
[ENSMUST00000119353]
[ENSMUST00000119425]
[ENSMUST00000119698]
[ENSMUST00000138260]
[ENSMUST00000132867]
[ENSMUST00000134893]
|
| AlphaFold |
O35465 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075491
AA Change: H182R
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: H182R
| 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 |
probably benign
Transcript: ENSMUST00000117580
|
| SMART Domains |
Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KxDL
|
12 |
99 |
5.1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119353
AA Change: H181R
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: H181R
| 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 benign
Transcript: ENSMUST00000119698
AA Change: H182R
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: H182R
| 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: ENSMUST00000144766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128513
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138260
|
| SMART Domains |
Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KxDL
|
12 |
99 |
9.2e-40 |
PFAM |
|
UBQ
|
105 |
176 |
2.14e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132867
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
| Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
| Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
| C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
| Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
| Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
| Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
| Itga5 |
T |
A |
15: 103,264,376 (GRCm39) |
K298* |
probably null |
Het |
| Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
| Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
| Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
| Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
| Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
| Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
| Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
| Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
probably damaging |
Het |
|
| Other mutations in Fkbp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Fkbp8
|
APN |
8 |
70,987,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation