Incidental Mutation 'R5203:Fntb'
| ID |
398274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fntb
|
| Ensembl Gene |
ENSMUSG00000033373 |
| Gene Name |
farnesyltransferase, CAAX box, beta |
| Synonyms |
2010013E13Rik |
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
76884014-76968188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76884346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 22
(P22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041008]
[ENSMUST00000125842]
[ENSMUST00000137826]
|
| AlphaFold |
Q8K2I1 |
| PDB Structure |
Crystal structure of FTase(ALPHA-subunit; BETA-subunit DELTA C10) in complex with BMS3 and lipid substrate FPP [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041008
AA Change: P22Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: P22Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenyltrans
|
124 |
164 |
8.2e-16 |
PFAM |
|
Pfam:Prenyltrans_2
|
127 |
241 |
7.8e-20 |
PFAM |
|
Pfam:Prenyltrans
|
172 |
215 |
1.2e-12 |
PFAM |
|
Pfam:Prenyltrans
|
220 |
263 |
2.1e-14 |
PFAM |
|
Pfam:Prenyltrans_2
|
226 |
350 |
1.4e-9 |
PFAM |
|
Pfam:Prenyltrans
|
268 |
312 |
1.7e-12 |
PFAM |
|
Pfam:Prenyltrans
|
330 |
374 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125842
|
| SMART Domains |
Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Churchill
|
1 |
65 |
2.4e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137826
|
| SMART Domains |
Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Churchill
|
1 |
92 |
1.9e-42 |
PFAM |
|
Pfam:Prenyltrans
|
157 |
198 |
5.1e-16 |
PFAM |
|
Pfam:Prenyltrans
|
206 |
249 |
2.8e-13 |
PFAM |
|
Pfam:Prenyltrans
|
255 |
297 |
1e-14 |
PFAM |
|
Pfam:Prenyltrans
|
302 |
346 |
1.6e-12 |
PFAM |
|
Pfam:Prenyltrans
|
364 |
408 |
1.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151864
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality and loss epiblast-derived structures as a result of decreased cell proliferation and increased apoptosis. Cultured blastocysts corresponding to E7.5 embryos display a dramatic decrease in inner cell mass proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Gpr22 |
A |
G |
12: 31,759,787 (GRCm39) |
S112P |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
probably damaging |
Het |
|
| Other mutations in Fntb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01536:Fntb
|
APN |
12 |
76,966,904 (GRCm39) |
missense |
probably benign |
|
|
IGL01933:Fntb
|
APN |
12 |
76,966,880 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02105:Fntb
|
APN |
12 |
76,909,263 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02108:Fntb
|
APN |
12 |
76,934,631 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02626:Fntb
|
APN |
12 |
76,944,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03257:Fntb
|
APN |
12 |
76,934,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0410:Fntb
|
UTSW |
12 |
76,934,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0938:Fntb
|
UTSW |
12 |
76,963,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Fntb
|
UTSW |
12 |
76,957,007 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2182:Fntb
|
UTSW |
12 |
76,909,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6444:Fntb
|
UTSW |
12 |
76,963,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Fntb
|
UTSW |
12 |
76,934,649 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7890:Fntb
|
UTSW |
12 |
76,920,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8852:Fntb
|
UTSW |
12 |
76,934,826 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8860:Fntb
|
UTSW |
12 |
76,934,826 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9064:Fntb
|
UTSW |
12 |
76,934,640 (GRCm39) |
missense |
probably benign |
|
|
R9756:Fntb
|
UTSW |
12 |
76,966,938 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATCCCAGTAACTCACTTCTTG -3'
(R):5'- ATGGAGAGTTTTGCCCCGAG -3'
Sequencing Primer
(F):5'- CCCAGTAACTCACTTCTTGAAGATG -3'
(R):5'- GACGGGCTTACAAAAGGGACTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation