Incidental Mutation 'R6444:Fntb'
| ID |
519139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fntb
|
| Ensembl Gene |
ENSMUSG00000033373 |
| Gene Name |
farnesyltransferase, CAAX box, beta |
| Synonyms |
2010013E13Rik |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76884014-76968188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76963214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 399
(Y399C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041008]
[ENSMUST00000125842]
[ENSMUST00000137826]
|
| AlphaFold |
Q8K2I1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041008
AA Change: Y365C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: Y365C
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000130605
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137826
AA Change: Y399C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: Y399C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
R5203:Fntb
|
UTSW |
12 |
76,884,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GACTGTGGACTAGCAAGTGG -3'
(R):5'- TGCAAGTGGCCACTCTGAAAC -3'
Sequencing Primer
(F):5'- GGCTCAAAAATGAGACCTTCAAGGC -3'
(R):5'- AGTGGCCACTCTGAAACTAGGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation