Incidental Mutation 'R3859:Fbl'
| ID |
276285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbl
|
| Ensembl Gene |
ENSMUSG00000046865 |
| Gene Name |
fibrillarin |
| Synonyms |
RNU3IP1 |
| MMRRC Submission |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27869135-27878694 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 27873935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042405]
[ENSMUST00000085901]
[ENSMUST00000172761]
[ENSMUST00000208967]
|
| AlphaFold |
P35550 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000042405
AA Change: S6N
|
| SMART Domains |
Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: S6N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
85 |
N/A |
INTRINSIC |
|
Fibrillarin
|
94 |
321 |
9.92e-176 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085901
|
| SMART Domains |
Protein: ENSMUSP00000083064
Gene: ENSMUSG00000002409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
S_TKc
|
111 |
431 |
3.75e-78 |
SMART |
|
low complexity region
|
438 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172761
|
| SMART Domains |
Protein: ENSMUSP00000133719
Gene: ENSMUSG00000002409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
|
S_TKc
|
111 |
391 |
1.52e-78 |
SMART |
|
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207397
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207600
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207956
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208967
AA Change: S6N
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208259
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with morula arrest. Heterozygous null mice display partial embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Dnajc5b |
G |
T |
3: 19,628,966 (GRCm39) |
G87* |
probably null |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gnao1 |
C |
T |
8: 94,538,273 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Krt12 |
G |
A |
11: 99,309,319 (GRCm39) |
L314F |
possibly damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,487 (GRCm39) |
E123G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
possibly damaging |
Het |
|
| Other mutations in Fbl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02641:Fbl
|
APN |
7 |
27,874,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Fbl
|
UTSW |
7 |
27,874,212 (GRCm39) |
intron |
probably benign |
|
|
R5367:Fbl
|
UTSW |
7 |
27,874,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Fbl
|
UTSW |
7 |
27,878,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Fbl
|
UTSW |
7 |
27,874,278 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7344:Fbl
|
UTSW |
7 |
27,878,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Fbl
|
UTSW |
7 |
27,877,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Fbl
|
UTSW |
7 |
27,876,620 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9417:Fbl
|
UTSW |
7 |
27,874,052 (GRCm39) |
missense |
unknown |
|
|
R9421:Fbl
|
UTSW |
7 |
27,875,439 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9432:Fbl
|
UTSW |
7 |
27,876,689 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1177:Fbl
|
UTSW |
7 |
27,874,257 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTTGATTGCTGCGCCTC -3'
(R):5'- CTTCGAGAACCTGCTCCAAC -3'
Sequencing Primer
(F):5'- GATTGCTGCGCCTCCTTTATGTG -3'
(R):5'- ATGTCAACCTCACTTACCTCGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation