Incidental Mutation 'R4195:Fbll1'
ID |
318537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbll1
|
Ensembl Gene |
ENSMUSG00000051062 |
Gene Name |
fibrillarin-like 1 |
Synonyms |
|
MMRRC Submission |
041026-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R4195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35688209-35689711 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35688493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 257
(S257P)
|
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: S257P
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128889 Gene: ENSMUSG00000051062 AA Change: S257P
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 |
0.0770 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
Actg2 |
T |
G |
6: 83,500,155 (GRCm39) |
T39P |
probably damaging |
Het |
Agap1 |
A |
G |
1: 89,762,261 (GRCm39) |
E531G |
probably damaging |
Het |
Alox12b |
A |
G |
11: 69,060,426 (GRCm39) |
S661G |
probably benign |
Het |
Apod |
T |
C |
16: 31,116,392 (GRCm39) |
M113V |
probably benign |
Het |
Atl3 |
A |
G |
19: 7,495,911 (GRCm39) |
I171V |
possibly damaging |
Het |
Atrn |
C |
A |
2: 130,775,332 (GRCm39) |
T145K |
probably damaging |
Het |
Cacna1f |
A |
G |
X: 7,475,169 (GRCm39) |
H57R |
probably damaging |
Het |
Cdhr18 |
C |
A |
14: 13,829,772 (GRCm38) |
V657L |
probably benign |
Het |
Cldn9 |
T |
C |
17: 23,902,148 (GRCm39) |
E159G |
probably damaging |
Het |
Cnnm4 |
C |
A |
1: 36,538,589 (GRCm39) |
H590Q |
probably benign |
Het |
Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
Cse1l |
A |
G |
2: 166,771,899 (GRCm39) |
T387A |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
G3bp2 |
A |
G |
5: 92,203,275 (GRCm39) |
S349P |
probably damaging |
Het |
Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
Gm6569 |
C |
T |
15: 73,708,092 (GRCm39) |
P22L |
probably damaging |
Het |
Itih2 |
T |
C |
2: 10,120,096 (GRCm39) |
N314D |
probably damaging |
Het |
Lman2l |
A |
C |
1: 36,464,022 (GRCm39) |
I266M |
probably damaging |
Het |
Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
T |
2: 52,161,571 (GRCm39) |
R2074S |
probably damaging |
Het |
Neb |
A |
T |
2: 52,180,847 (GRCm39) |
H1226Q |
probably damaging |
Het |
Nmi |
A |
C |
2: 51,838,632 (GRCm39) |
S301A |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,328 (GRCm39) |
C182* |
probably null |
Het |
Pclo |
A |
G |
5: 14,727,577 (GRCm39) |
|
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
Polr1e |
T |
C |
4: 45,019,327 (GRCm39) |
Y59H |
probably damaging |
Het |
Slc30a4 |
G |
A |
2: 122,527,190 (GRCm39) |
T401M |
probably damaging |
Het |
Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
Zzz3 |
A |
G |
3: 152,134,102 (GRCm39) |
T387A |
probably benign |
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 |
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 |
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'- TGGCCTCAACTGTACACTTGG -3'
(R):5'- GGTTGAATTCTCCCATCGCG -3'
Sequencing Primer
(F):5'- GCCTCAACTGTACACTTGGGAATTG -3'
(R):5'- CGCGATCTGGTCAACGTG -3'
|
Posted On |
2015-06-10 |