Incidental Mutation 'R0938:Fntb'
| ID |
81257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fntb
|
| Ensembl Gene |
ENSMUSG00000033373 |
| Gene Name |
farnesyltransferase, CAAX box, beta |
| Synonyms |
2010013E13Rik |
| MMRRC Submission |
039077-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0938 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
| Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
| Dazap1 |
T |
C |
10: 80,116,795 (GRCm39) |
S165P |
possibly damaging |
Het |
| Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
| Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
| Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
| Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
| Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
| P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
| Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
| Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
| Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
| Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
| Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
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 |
|
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 |
|
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'- CAGCAGTGACTGTGGACTAGCAAG -3'
(R):5'- AATAAGGTCCCAGCATCTCTGCCC -3'
Sequencing Primer
(F):5'- GGGCTCAAAAATGAGACCTTC -3'
(R):5'- TCACTCAGGCCGCAGAATG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation