Incidental Mutation 'IGL01559:Fbll1'
| ID |
90794 |
| 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 # |
IGL01559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
35688209-35689711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35688372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 297
(E297G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160726]
|
| AlphaFold |
Q80WS3 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120504
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160726
AA Change: E297G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: E297G
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
| Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
| Dennd6a |
A |
G |
14: 26,329,720 (GRCm39) |
D97G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
| Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
| Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
| Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
| Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably 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 |
|
IGL01663:Fbll1
|
APN |
11 |
35,688,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01799:Fbll1
|
APN |
11 |
35,688,936 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
2013-12-09 |
Incidental Mutation