Incidental Mutation 'R4034:Fbll1'
| ID |
313631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbll1
|
| Ensembl Gene |
ENSMUSG00000051062 |
| Gene Name |
fibrillarin-like 1 |
| Synonyms |
|
| MMRRC Submission |
040962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R4034 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
35688209-35689711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35688505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 253
(H253Y)
|
| 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: H253Y
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: H253Y
| 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 |
0.0583 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,199,597 (GRCm39) |
K227E |
possibly damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
| Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
| Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
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 |
|
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 |
|
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 |
|
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'- GGCCTCAACTGTACACTTGG -3'
(R):5'- GTTGAATTCTCCCATCGCGC -3'
Sequencing Primer
(F):5'- GCCTCAACTGTACACTTGGGAATTG -3'
(R):5'- CGCGATCTGGTCAACGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation