Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:Fbl'

172675

Institutional Source

Beutler Lab

Gene Symbol

Fbl

Ensembl Gene

ENSMUSG00000046865

Gene Name

fibrillarin

Synonyms

RNU3IP1

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27869135-27878694 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 27874212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172761] [ENSMUST00000208967]

AlphaFold

P35550

Predicted Effect

unknown
Transcript: ENSMUST00000042405
AA Change: G66W

SMART Domains

Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: G66W

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: ENSMUST00000207956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208259

Predicted Effect

probably benign
Transcript: ENSMUST00000208967

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	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
R3859:Fbl	UTSW	7	27,873,935 (GRCm39)	unclassified	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'- AGAGCCTGTGCCTTGCTGATTTC -3'
(R):5'- CCTCCTTTCCGCGACAGATAAAGAC -3'

Sequencing Primer
(F):5'- agaggaggtggaagaggag -3'
(R):5'- GCGACAGATAAAGACACCTGG -3'

Posted On

2014-04-24