Mutagenetix > Incidental Mutation

Incidental Mutation 'R5618:Fbl'

439637

Institutional Source

Beutler Lab

Gene Symbol

Fbl

Ensembl Gene

ENSMUSG00000046865

Gene Name

fibrillarin

Synonyms

RNU3IP1

MMRRC Submission

043277-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5618 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27869135-27878694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27878411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 301 (E301G)

Ref Sequence

ENSEMBL: ENSMUSP00000037613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761] [ENSMUST00000208967]

AlphaFold

P35550

Predicted Effect

probably damaging
Transcript: ENSMUST00000042405
AA Change: E301G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: E301G

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: ENSMUST00000172467

SMART Domains

Protein: ENSMUSP00000133431
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: ENSMUST00000208259

Predicted Effect

probably benign
Transcript: ENSMUST00000208967

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	G	A	5: 107,696,065 (GRCm39)	W167*	probably null	Het
Acvr1	C	T	2: 58,352,955 (GRCm39)	R335Q	probably damaging	Het
Atg7	A	G	6: 114,650,660 (GRCm39)	D67G	probably damaging	Het
Avil	T	C	10: 126,846,446 (GRCm39)	F417S	possibly damaging	Het
AW551984	A	T	9: 39,502,000 (GRCm39)	L702Q	probably damaging	Het
Bcl7a	A	T	5: 123,499,265 (GRCm39)	N95Y	probably damaging	Het
Cblb	A	G	16: 51,973,031 (GRCm39)	D454G	possibly damaging	Het
Cc2d2a	A	T	5: 43,887,249 (GRCm39)	Q1226H	probably benign	Het
Cct5	A	G	15: 31,598,161 (GRCm39)	S13P	possibly damaging	Het
Clca3a1	C	T	3: 144,710,738 (GRCm39)	E822K	probably benign	Het
Csgalnact2	A	T	6: 118,103,277 (GRCm39)	D228E	probably damaging	Het
Defb12	A	T	8: 19,164,814 (GRCm39)	M8K	possibly damaging	Het
Dipk1b	T	C	2: 26,524,887 (GRCm39)	S96P	probably damaging	Het
Dysf	A	G	6: 84,083,806 (GRCm39)	D736G	probably benign	Het
Exog	G	T	9: 119,291,817 (GRCm39)	D365Y	probably damaging	Het
Fam222b	T	G	11: 78,045,066 (GRCm39)	V81G	probably benign	Het
Fez1	A	T	9: 36,755,228 (GRCm39)	N76Y	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
H2-Q4	T	A	17: 35,598,901 (GRCm39)	F57Y	probably damaging	Het
Ift88	T	C	14: 57,718,965 (GRCm39)	I650T	possibly damaging	Het
Kif1b	A	T	4: 149,354,346 (GRCm39)	D231E	possibly damaging	Het
Lig4	A	T	8: 10,022,021 (GRCm39)	D586E	probably benign	Het
Mlc1	C	A	15: 88,858,769 (GRCm39)	L126F	probably damaging	Het
Muc4	A	G	16: 32,754,253 (GRCm38)	T1376A	probably benign	Het
Ncoa6	A	T	2: 155,279,817 (GRCm39)	D66E	possibly damaging	Het
Or6ae1	A	G	7: 139,742,185 (GRCm39)	V226A	probably damaging	Het
Or8b44	C	T	9: 38,410,036 (GRCm39)	Q24*	probably null	Het
Pard6a	T	C	8: 106,429,546 (GRCm39)	V168A	probably damaging	Het
Pmpcb	A	G	5: 21,947,786 (GRCm39)	N163S	possibly damaging	Het
Pramel27	A	T	4: 143,577,263 (GRCm39)	E15V	possibly damaging	Het
Prdm2	C	T	4: 142,860,107 (GRCm39)	C1061Y	probably benign	Het
Prkdc	A	G	16: 15,627,476 (GRCm39)	Y3378C	probably damaging	Het
Sema6a	A	T	18: 47,415,015 (GRCm39)	V425E	probably damaging	Het
Sema7a	A	T	9: 57,867,566 (GRCm39)	E439D	possibly damaging	Het
Serpinf1	T	A	11: 75,301,010 (GRCm39)	T402S	possibly damaging	Het
Sf3a2	T	C	10: 80,640,410 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,321,545 (GRCm39)	S1346T	probably benign	Het
Smchd1	A	T	17: 71,762,722 (GRCm39)	D172E	probably damaging	Het
Spag5	T	G	11: 78,194,906 (GRCm39)	I71S	probably benign	Het
Spata31d1d	G	A	13: 59,874,214 (GRCm39)	A1107V	probably benign	Het
Svep1	A	C	4: 58,070,537 (GRCm39)	S2416R	probably benign	Het
Tbc1d9	A	G	8: 83,969,221 (GRCm39)	Y503C	probably damaging	Het
Tlr9	A	T	9: 106,101,938 (GRCm39)	I410F	possibly damaging	Het
Tmem87a	C	A	2: 120,199,787 (GRCm39)	L452F	probably benign	Het
Tmprss11d	A	T	5: 86,454,154 (GRCm39)	M217K	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vmn2r80	T	C	10: 78,984,755 (GRCm39)	Y36H	probably benign	Het
Vmn2r87	A	T	10: 130,315,817 (GRCm39)	F83Y	probably damaging	Het
Vmp1	C	T	11: 86,554,388 (GRCm39)	R75H	probably benign	Het
Wapl	T	A	14: 34,413,863 (GRCm39)	Y242N	possibly damaging	Het
Zfp473	T	A	7: 44,391,156 (GRCm39)	D6V	probably benign	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
R3859:Fbl	UTSW	7	27,873,935 (GRCm39)	unclassified	probably benign
R5367:Fbl	UTSW	7	27,874,475 (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'- CCTGACCTTAAACACTGCCTTAG -3'
(R):5'- AGTTTCAGTTCTTCACCTTGGG -3'

Sequencing Primer
(F):5'- ATAACCTGTTTCCAATGTGAGCC -3'
(R):5'- GAGGTGGCCTGTGAGGAAATC -3'

Posted On

2016-11-08