Incidental Mutation 'IGL01508:Fnta'
ID |
89125 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fnta
|
Ensembl Gene |
ENSMUSG00000015994 |
Gene Name |
farnesyltransferase, CAAX box, alpha |
Synonyms |
FTA |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01508
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
26488716-26505638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26497294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 185
(E185G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016138]
|
AlphaFold |
Q61239 |
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 damaging
Transcript: ENSMUST00000016138
AA Change: E185G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000016138 Gene: ENSMUSG00000015994 AA Change: E185G
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
48 |
N/A |
INTRINSIC |
Pfam:PPTA
|
116 |
143 |
4.6e-11 |
PFAM |
Pfam:PPTA
|
151 |
178 |
9.2e-14 |
PFAM |
Pfam:PPTA
|
185 |
212 |
3.9e-15 |
PFAM |
Pfam:PPTA
|
219 |
246 |
8.1e-11 |
PFAM |
Pfam:PPTA
|
259 |
285 |
4.7e-9 |
PFAM |
low complexity region
|
293 |
304 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209664
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
Ffar2 |
T |
C |
7: 30,518,601 (GRCm39) |
D313G |
probably benign |
Het |
Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
Other mutations in Fnta |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Fnta
|
APN |
8 |
26,497,229 (GRCm39) |
nonsense |
probably null |
|
BB004:Fnta
|
UTSW |
8 |
26,494,454 (GRCm39) |
nonsense |
probably null |
|
BB014:Fnta
|
UTSW |
8 |
26,494,454 (GRCm39) |
nonsense |
probably null |
|
R0455:Fnta
|
UTSW |
8 |
26,491,056 (GRCm39) |
missense |
probably benign |
0.00 |
R1462:Fnta
|
UTSW |
8 |
26,489,599 (GRCm39) |
splice site |
probably null |
|
R1462:Fnta
|
UTSW |
8 |
26,489,599 (GRCm39) |
splice site |
probably null |
|
R1772:Fnta
|
UTSW |
8 |
26,490,994 (GRCm39) |
splice site |
probably benign |
|
R2095:Fnta
|
UTSW |
8 |
26,489,907 (GRCm39) |
nonsense |
probably null |
|
R2174:Fnta
|
UTSW |
8 |
26,503,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5193:Fnta
|
UTSW |
8 |
26,501,246 (GRCm39) |
splice site |
probably null |
|
R5212:Fnta
|
UTSW |
8 |
26,499,735 (GRCm39) |
missense |
probably benign |
0.07 |
R5557:Fnta
|
UTSW |
8 |
26,489,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5756:Fnta
|
UTSW |
8 |
26,499,735 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6467:Fnta
|
UTSW |
8 |
26,497,341 (GRCm39) |
nonsense |
probably null |
|
R7127:Fnta
|
UTSW |
8 |
26,497,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Fnta
|
UTSW |
8 |
26,505,493 (GRCm39) |
missense |
probably benign |
0.02 |
R7644:Fnta
|
UTSW |
8 |
26,503,516 (GRCm39) |
missense |
probably damaging |
0.97 |
R7927:Fnta
|
UTSW |
8 |
26,494,454 (GRCm39) |
nonsense |
probably null |
|
R8012:Fnta
|
UTSW |
8 |
26,489,535 (GRCm39) |
missense |
probably benign |
0.00 |
R8441:Fnta
|
UTSW |
8 |
26,501,209 (GRCm39) |
nonsense |
probably null |
|
R8957:Fnta
|
UTSW |
8 |
26,489,541 (GRCm39) |
missense |
probably benign |
0.00 |
R9352:Fnta
|
UTSW |
8 |
26,501,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |