Incidental Mutation 'R3087:Fbll1'
| ID |
262869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbll1
|
| Ensembl Gene |
ENSMUSG00000051062 |
| Gene Name |
fibrillarin-like 1 |
| Synonyms |
|
| MMRRC Submission |
040576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R3087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35688209-35689711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35689017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 82
(V82E)
|
| 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: V82E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: V82E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
77 |
N/A |
INTRINSIC |
|
Fibrillarin
|
82 |
309 |
1.21e-170 |
SMART |
|
| Meta Mutation Damage Score |
0.0987 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (29/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
| Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
| Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
| Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
| Cdc16 |
T |
C |
8: 13,809,004 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
| Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
| Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,549,011 (GRCm39) |
W220R |
probably damaging |
Het |
| Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
| Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
| Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
| Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,319 (GRCm39) |
I195V |
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,520,416 (GRCm39) |
D56G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
probably benign |
Het |
| Vstm4 |
T |
C |
14: 32,614,592 (GRCm39) |
V178A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTGGAGCGGAAGGGATTC -3'
(R):5'- ACAATTTGTCCCCATTCCGCAG -3'
Sequencing Primer
(F):5'- AAGGGATTCCACGTGCGGTAC -3'
(R):5'- AGTTCCTGAGAGCTGCGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation