Incidental Mutation 'R0738:Fkbp8'
| ID |
70579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp8
|
| Ensembl Gene |
ENSMUSG00000019428 |
| Gene Name |
FK506 binding protein 8 |
| Synonyms |
Fkbp38, 38kDa |
| MMRRC Submission |
038919-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70980374-70987978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70982320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 86
(I86N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075491]
[ENSMUST00000117580]
[ENSMUST00000119353]
[ENSMUST00000119425]
[ENSMUST00000119698]
[ENSMUST00000132867]
[ENSMUST00000134893]
[ENSMUST00000138260]
|
| AlphaFold |
O35465 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075491
AA Change: I86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: I86N
| 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 damaging
Transcript: ENSMUST00000119353
AA Change: I86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: I86N
| 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: I86N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: I86N
| 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: ENSMUST00000128513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126613
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134893
|
| 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 |
|
| Meta Mutation Damage Score |
0.2794 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,388,812 (GRCm39) |
M189K |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
| Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
| Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
| Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
| Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
| Lrfn5 |
G |
T |
12: 61,887,378 (GRCm39) |
E389* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,286,315 (GRCm39) |
L228P |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
| Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
| Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
| Mttp |
A |
G |
3: 137,809,074 (GRCm39) |
V678A |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
| Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
| Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,218,173 (GRCm39) |
H121Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
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 |
|
IGL01832:Fkbp8
|
APN |
8 |
70,984,195 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGTTATCACTGTCACACTTGCC -3'
(R):5'- TCTCTGAGCTGCTGTTACCAGCAC -3'
Sequencing Primer
(F):5'- AGTTCCTGATCCCAGCAGC -3'
(R):5'- gcagacccagcttggac -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation