Incidental Mutation 'R9242:Fbl'
ID 701046
Institutional Source Beutler Lab
Gene Symbol Fbl
Ensembl Gene ENSMUSG00000046865
Gene Name fibrillarin
Synonyms RNU3IP1
MMRRC Submission 068988-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9242 (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 C at 27876620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 207 (I207T)
Ref Sequence ENSEMBL: ENSMUSP00000037613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042405] [ENSMUST00000085901] [ENSMUST00000172467] [ENSMUST00000172761] [ENSMUST00000208967]
AlphaFold P35550
Predicted Effect probably benign
Transcript: ENSMUST00000042405
AA Change: I207T

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: I207T

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
Meta Mutation Damage Score 0.1024 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (49/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 C A 5: 8,949,677 (GRCm39) T79K probably damaging Het
Ackr3 G T 1: 90,142,558 (GRCm39) G339V probably damaging Het
Agpat4 G T 17: 12,429,186 (GRCm39) R146L probably damaging Het
Ampd1 C T 3: 102,998,936 (GRCm39) R364C probably damaging Het
Atrnl1 A G 19: 57,645,660 (GRCm39) T507A probably benign Het
Cand2 C G 6: 115,768,923 (GRCm39) R578G probably benign Het
Capg C T 6: 72,532,869 (GRCm39) P111L probably damaging Het
Carm1 C T 9: 21,494,350 (GRCm39) T289I probably damaging Het
Ccr6 A G 17: 8,474,965 (GRCm39) I57V probably benign Het
Cdk5rap2 T C 4: 70,255,583 (GRCm39) I434V possibly damaging Het
Chrdl2 C T 7: 99,655,743 (GRCm39) probably benign Het
Cntnap5a A G 1: 116,220,109 (GRCm39) T640A probably benign Het
Ctsd T C 7: 141,937,280 (GRCm39) probably null Het
D17H6S53E G T 17: 35,346,536 (GRCm39) R149L possibly damaging Het
Dync1i1 A G 6: 5,769,706 (GRCm39) T77A probably benign Het
Emc2 T C 15: 43,358,639 (GRCm39) M100T probably benign Het
Esrra A G 19: 6,889,863 (GRCm39) V290A probably benign Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gcc1 T A 6: 28,420,375 (GRCm39) N314I possibly damaging Het
Gzmm A T 10: 79,530,354 (GRCm39) D175V probably damaging Het
Heatr1 G A 13: 12,448,806 (GRCm39) M1840I probably benign Het
Helz T C 11: 107,523,153 (GRCm39) L779P probably damaging Het
Impg1 T A 9: 80,289,064 (GRCm39) N331I probably damaging Het
Inmt C T 6: 55,150,270 (GRCm39) probably null Het
Inpp5a C T 7: 139,061,634 (GRCm39) T102M probably damaging Het
Lamc3 A G 2: 31,788,323 (GRCm39) Y161C probably benign Het
Lpin2 A G 17: 71,553,966 (GRCm39) *932W probably null Het
Lrp3 C T 7: 34,901,934 (GRCm39) R649H probably benign Het
Madd G A 2: 90,973,949 (GRCm39) T1464I probably damaging Het
Nceh1 C A 3: 27,293,777 (GRCm39) Y178* probably null Het
Or5ae2 A T 7: 84,506,086 (GRCm39) K172* probably null Het
Or5b96 T A 19: 12,867,989 (GRCm39) probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd4 A T 17: 42,627,604 (GRCm39) R22* probably null Het
Ptpru C T 4: 131,530,341 (GRCm39) G560S probably damaging Het
Ralgapb G T 2: 158,277,386 (GRCm39) R250L probably benign Het
Rcor1 T A 12: 111,076,228 (GRCm39) Y395* probably null Het
Slc35f6 G T 5: 30,805,410 (GRCm39) probably benign Het
Slc40a1 A G 1: 45,950,129 (GRCm39) V441A probably benign Het
Slc6a13 T A 6: 121,295,228 (GRCm39) F77Y probably damaging Het
Slc6a15 T A 10: 103,229,406 (GRCm39) C148* probably null Het
Sox10 T C 15: 79,040,640 (GRCm39) Y300C probably damaging Het
Tomm70a T A 16: 56,958,383 (GRCm39) probably benign Het
Tor4a A G 2: 25,085,537 (GRCm39) V122A probably benign Het
Tpi1 T C 6: 124,791,138 (GRCm39) Q33R probably benign Het
Unk T C 11: 115,940,184 (GRCm39) V179A probably benign Het
Ush2a G T 1: 188,365,787 (GRCm39) G2214C probably damaging Het
Vmn1r159 T A 7: 22,542,912 (GRCm39) Y40F probably benign Het
Wbp2nl T C 15: 82,192,748 (GRCm39) V144A probably benign Het
Wdpcp A G 11: 21,835,040 (GRCm39) E681G probably benign 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
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
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'- GTCTCTAACTACCCTGGATGC -3'
(R):5'- TGGACACAATCTCCACCTGC -3'

Sequencing Primer
(F):5'- GAATAACCGTGGCTCATGACTTGTC -3'
(R):5'- TGCAGGTCCTCACACTGC -3'
Posted On 2022-03-25