Incidental Mutation 'IGL03257:Fntb'
ID |
414706 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fntb
|
Ensembl Gene |
ENSMUSG00000033373 |
Gene Name |
farnesyltransferase, CAAX box, beta |
Synonyms |
2010013E13Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03257
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
76884014-76968188 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76934805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 228
(H228R)
|
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: H194R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035498 Gene: ENSMUSG00000033373 AA Change: H194R
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 damaging
Transcript: ENSMUST00000137826
AA Change: H228R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120713 Gene: ENSMUSG00000033373 AA Change: H228R
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: ENSMUST00000154743
|
Coding Region Coverage |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
A |
14: 118,852,623 (GRCm39) |
V489L |
probably benign |
Het |
Alpk2 |
C |
A |
18: 65,482,945 (GRCm39) |
E354D |
probably damaging |
Het |
Ank1 |
A |
T |
8: 23,612,914 (GRCm39) |
K1060M |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,776,944 (GRCm39) |
N1111D |
possibly damaging |
Het |
Ccny |
A |
T |
18: 9,386,747 (GRCm39) |
S73T |
possibly damaging |
Het |
Clps |
T |
C |
17: 28,779,634 (GRCm39) |
|
probably benign |
Het |
Cnga1 |
C |
A |
5: 72,768,205 (GRCm39) |
W160C |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,759,072 (GRCm39) |
S2045G |
possibly damaging |
Het |
Dennd4a |
T |
G |
9: 64,779,156 (GRCm39) |
N546K |
possibly damaging |
Het |
Efcab5 |
A |
T |
11: 77,079,596 (GRCm39) |
M50K |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,424,826 (GRCm39) |
C444Y |
probably damaging |
Het |
Gpm6a |
A |
G |
8: 55,490,507 (GRCm39) |
Y61C |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,252,106 (GRCm39) |
S119T |
possibly damaging |
Het |
Igf1r |
T |
A |
7: 67,864,688 (GRCm39) |
I1162N |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,087,258 (GRCm39) |
T397A |
probably benign |
Het |
Kdm1b |
C |
T |
13: 47,202,742 (GRCm39) |
T59M |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,496,542 (GRCm39) |
S57T |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,087,455 (GRCm39) |
|
probably null |
Het |
Or5p52 |
T |
C |
7: 107,501,963 (GRCm39) |
I13T |
probably benign |
Het |
Or8k27 |
A |
T |
2: 86,276,234 (GRCm39) |
F31I |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,656 (GRCm39) |
I127T |
probably damaging |
Het |
Psme1 |
T |
C |
14: 55,818,086 (GRCm39) |
I142T |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,493,370 (GRCm39) |
|
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,645,687 (GRCm39) |
N321K |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,361,126 (GRCm39) |
S340P |
probably damaging |
Het |
Txnrd1 |
A |
T |
10: 82,721,105 (GRCm39) |
K393I |
probably benign |
Het |
Zfp365 |
A |
T |
10: 67,724,868 (GRCm39) |
F340Y |
possibly damaging |
Het |
Zfp451 |
C |
A |
1: 33,816,129 (GRCm39) |
R607L |
possibly damaging |
Het |
Zfp618 |
A |
G |
4: 63,050,908 (GRCm39) |
Y563C |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |