Incidental Mutation 'R7344:Fbl'
ID 570087
Institutional Source Beutler Lab
Gene Symbol Fbl
Ensembl Gene ENSMUSG00000046865
Gene Name fibrillarin
Synonyms RNU3IP1
MMRRC Submission 045434-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7344 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 27869135-27878694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27878360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 284 (V284E)
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: V284E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: V284E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000208967
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A C 11: 58,182,273 (GRCm39) Y216S Het
Anpep G T 7: 79,488,398 (GRCm39) S477R possibly damaging Het
Atp7b T C 8: 22,487,515 (GRCm39) D1293G probably damaging Het
Caprin2 A G 6: 148,774,565 (GRCm39) V249A probably benign Het
Cep41 C T 6: 30,693,655 (GRCm39) R5K probably benign Het
Cyp2c23 A T 19: 44,010,176 (GRCm39) probably null Het
Dazap2 T A 15: 100,514,824 (GRCm39) V15E possibly damaging Het
Ecpas A T 4: 58,824,770 (GRCm39) D1070E probably benign Het
Epha8 T A 4: 136,661,849 (GRCm39) H582L probably benign Het
Fam193a A G 5: 34,643,074 (GRCm39) T1513A possibly damaging Het
Fancd2 T C 6: 113,545,670 (GRCm39) V901A probably benign Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Fbxw16 A G 9: 109,278,103 (GRCm39) V25A probably benign Het
Fcgbpl1 C T 7: 27,852,185 (GRCm39) T1236I possibly damaging Het
Fcgbpl1 T C 7: 27,839,704 (GRCm39) S506P possibly damaging Het
Gm11562 T G 11: 99,511,195 (GRCm39) T2P unknown Het
Gm17728 G T 17: 9,640,955 (GRCm39) G22W probably damaging Het
Gm30083 A G 14: 33,721,537 (GRCm39) Y190H probably benign Het
Gm6793 T A 8: 112,741,561 (GRCm39) D27V probably damaging Het
Gm7324 A G 14: 43,952,134 (GRCm39) D259G probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Ildr2 T A 1: 166,122,166 (GRCm39) V203E probably damaging Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Irx5 A G 8: 93,086,183 (GRCm39) T89A probably benign Het
Itga7 A G 10: 128,776,798 (GRCm39) N221S possibly damaging Het
Lpcat2 T C 8: 93,602,195 (GRCm39) W259R probably damaging Het
Lrrc8e C T 8: 4,284,815 (GRCm39) R347C probably damaging Het
Lyst T A 13: 13,881,140 (GRCm39) D2790E probably benign Het
Magi2 G A 5: 20,755,238 (GRCm39) R604Q probably benign Het
Mertk C A 2: 128,613,417 (GRCm39) H478N probably benign Het
Mical3 T A 6: 121,013,505 (GRCm39) K293* probably null Het
Nod2 T C 8: 89,387,210 (GRCm39) L168P probably damaging Het
Npnt T C 3: 132,614,100 (GRCm39) probably null Het
Or1x6 T G 11: 50,939,122 (GRCm39) F63V probably damaging Het
Or5af1 A T 11: 58,722,308 (GRCm39) E109D probably damaging Het
Or8b37 T C 9: 37,959,253 (GRCm39) M245T probably benign Het
Or9g4 A T 2: 85,505,275 (GRCm39) Y73* probably null Het
Plcd4 A T 1: 74,593,811 (GRCm39) D312V probably damaging Het
Prss58 A G 6: 40,872,399 (GRCm39) I208T probably damaging Het
Pus7l A G 15: 94,438,498 (GRCm39) S116P probably benign Het
Rcc1l A T 5: 134,205,276 (GRCm39) I93N probably benign Het
Rftn2 A C 1: 55,265,311 (GRCm39) Y36* probably null Het
Rp1l1 G A 14: 64,267,069 (GRCm39) R885Q probably benign Het
Rpgrip1 A T 14: 52,378,116 (GRCm39) D488V probably damaging Het
Sacs A G 14: 61,444,893 (GRCm39) Y2313C possibly damaging Het
Scrib T C 15: 75,921,107 (GRCm39) Y1332C probably damaging Het
Serpinb10 T C 1: 107,468,672 (GRCm39) V105A probably damaging Het
Slc35d1 A T 4: 103,070,243 (GRCm39) probably null Het
Slfn3 T C 11: 83,103,648 (GRCm39) V173A probably benign Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Stard9 A T 2: 120,535,167 (GRCm39) D3808V possibly damaging Het
Supt16 A T 14: 52,411,028 (GRCm39) V692D probably damaging Het
Tapt1 A T 5: 44,345,999 (GRCm39) V317E probably damaging Het
Vmn2r101 T C 17: 19,832,059 (GRCm39) I685T probably benign Het
Vmn2r92 A G 17: 18,387,513 (GRCm39) I173V probably benign Het
Vps54 T C 11: 21,224,999 (GRCm39) I165T probably damaging Het
Zswim4 G A 8: 84,950,327 (GRCm39) R628* probably null Het
Zzz3 T C 3: 152,157,736 (GRCm39) S770P probably damaging Het
Other mutations in Fbl
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACCTTAAACACTGCCTTAGATAAATG -3'
(R):5'- GGTGGCCTGTGAGGAAATC -3'
Posted On 2019-09-13