Incidental Mutation 'IGL01799:Fbll1'
ID |
155441 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbll1
|
Ensembl Gene |
ENSMUSG00000051062 |
Gene Name |
fibrillarin-like 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
IGL01799
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
35688209-35689711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 35688936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 109
(V109G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160726]
|
AlphaFold |
Q80WS3 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120504
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160726
AA Change: V109G
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128889 Gene: ENSMUSG00000051062 AA Change: V109G
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
77 |
N/A |
INTRINSIC |
Fibrillarin
|
82 |
309 |
1.21e-170 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
T |
A |
13: 4,564,257 (GRCm39) |
|
probably null |
Het |
Anp32a |
A |
G |
9: 62,279,092 (GRCm39) |
T35A |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,938,754 (GRCm39) |
Y119H |
probably damaging |
Het |
Evc |
T |
C |
5: 37,482,258 (GRCm39) |
I32V |
possibly damaging |
Het |
Gli3 |
T |
C |
13: 15,900,746 (GRCm39) |
S1378P |
probably benign |
Het |
Hcfc2 |
G |
A |
10: 82,536,825 (GRCm39) |
C79Y |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,090,911 (GRCm39) |
I741N |
possibly damaging |
Het |
Heatr5a |
T |
C |
12: 51,944,618 (GRCm39) |
D1289G |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,891,336 (GRCm39) |
N383K |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,645,770 (GRCm39) |
L59P |
probably damaging |
Het |
Lrrc8b |
T |
A |
5: 105,633,757 (GRCm39) |
L743Q |
probably benign |
Het |
Micos10 |
G |
T |
4: 138,831,308 (GRCm39) |
|
probably benign |
Het |
Mks1 |
A |
T |
11: 87,747,689 (GRCm39) |
I191F |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,243,187 (GRCm39) |
N104K |
probably damaging |
Het |
Ms4a6d |
A |
T |
19: 11,567,499 (GRCm39) |
I26N |
probably damaging |
Het |
Mup17 |
T |
C |
4: 61,511,948 (GRCm39) |
T109A |
probably benign |
Het |
Mylk4 |
T |
G |
13: 32,965,674 (GRCm39) |
E9A |
probably benign |
Het |
Myo7b |
C |
T |
18: 32,095,823 (GRCm39) |
V1812M |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,374,401 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,222,599 (GRCm39) |
|
probably benign |
Het |
Nlrp4f |
T |
C |
13: 65,335,276 (GRCm39) |
H771R |
probably benign |
Het |
Opa1 |
T |
C |
16: 29,435,476 (GRCm39) |
V642A |
possibly damaging |
Het |
Or9g3 |
T |
A |
2: 85,589,986 (GRCm39) |
I245F |
probably benign |
Het |
Pate12 |
T |
C |
9: 36,344,179 (GRCm39) |
L54P |
possibly damaging |
Het |
Pi4ka |
C |
A |
16: 17,207,235 (GRCm39) |
L23F |
probably damaging |
Het |
Rerg |
T |
A |
6: 137,033,376 (GRCm39) |
K100* |
probably null |
Het |
Sema6c |
T |
C |
3: 95,078,142 (GRCm39) |
V506A |
probably damaging |
Het |
Slc15a1 |
T |
G |
14: 121,718,141 (GRCm39) |
N246T |
possibly damaging |
Het |
Sorcs1 |
A |
G |
19: 50,218,647 (GRCm39) |
|
probably null |
Het |
Vmn2r118 |
A |
G |
17: 55,899,990 (GRCm39) |
L638P |
probably damaging |
Het |
Vmn2r80 |
G |
A |
10: 79,007,385 (GRCm39) |
G454S |
possibly damaging |
Het |
|
Other mutations in Fbll1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00966:Fbll1
|
APN |
11 |
35,688,874 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01559:Fbll1
|
APN |
11 |
35,688,372 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01663:Fbll1
|
APN |
11 |
35,688,648 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01988:Fbll1
|
APN |
11 |
35,688,728 (GRCm39) |
missense |
probably benign |
|
R0088:Fbll1
|
UTSW |
11 |
35,688,967 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3087:Fbll1
|
UTSW |
11 |
35,689,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R3738:Fbll1
|
UTSW |
11 |
35,688,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3739:Fbll1
|
UTSW |
11 |
35,688,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3854:Fbll1
|
UTSW |
11 |
35,688,526 (GRCm39) |
missense |
probably benign |
0.01 |
R3935:Fbll1
|
UTSW |
11 |
35,688,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R4034:Fbll1
|
UTSW |
11 |
35,688,505 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4195:Fbll1
|
UTSW |
11 |
35,688,699 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4195:Fbll1
|
UTSW |
11 |
35,688,493 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4196:Fbll1
|
UTSW |
11 |
35,688,699 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4824:Fbll1
|
UTSW |
11 |
35,688,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Fbll1
|
UTSW |
11 |
35,688,407 (GRCm39) |
missense |
probably benign |
0.02 |
R5669:Fbll1
|
UTSW |
11 |
35,688,411 (GRCm39) |
missense |
probably benign |
0.09 |
R5909:Fbll1
|
UTSW |
11 |
35,689,159 (GRCm39) |
missense |
unknown |
|
R6265:Fbll1
|
UTSW |
11 |
35,688,636 (GRCm39) |
missense |
probably damaging |
0.98 |
R7934:Fbll1
|
UTSW |
11 |
35,689,048 (GRCm39) |
missense |
unknown |
|
R8078:Fbll1
|
UTSW |
11 |
35,688,728 (GRCm39) |
missense |
probably benign |
|
R8499:Fbll1
|
UTSW |
11 |
35,688,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R8819:Fbll1
|
UTSW |
11 |
35,688,802 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2014-02-04 |