Incidental Mutation 'R7742:Fbl'
ID 596603
Institutional Source Beutler Lab
Gene Symbol Fbl
Ensembl Gene ENSMUSG00000046865
Gene Name fibrillarin
Synonyms RNU3IP1
MMRRC Submission 045798-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7742 (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 27877684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 252 (V252E)
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: V252E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037613
Gene: ENSMUSG00000046865
AA Change: V252E

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: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,714 (GRCm39) K417R possibly damaging Het
Adgrl2 A T 3: 148,542,064 (GRCm39) I886N probably damaging Het
Angptl2 A G 2: 33,133,928 (GRCm39) T417A probably damaging Het
Ankrd33b T C 15: 31,367,538 (GRCm39) M1V probably null Het
Col3a1 A G 1: 45,384,161 (GRCm39) H1155R unknown Het
Csad A G 15: 102,095,599 (GRCm39) S153P probably damaging Het
Dennd1b G A 1: 138,990,611 (GRCm39) E192K probably damaging Het
Dmtf1 C T 5: 9,172,457 (GRCm39) probably benign Het
Dna2 T C 10: 62,809,073 (GRCm39) I1055T probably benign Het
Dnai4 C T 4: 102,947,630 (GRCm39) M215I probably benign Het
Dync2h1 T C 9: 7,076,232 (GRCm39) D2975G probably benign Het
Eif1ad7 A T 12: 88,238,476 (GRCm39) Y95N probably damaging Het
F5 G T 1: 164,035,453 (GRCm39) V1876F possibly damaging Het
Fam81b T A 13: 76,399,809 (GRCm39) I150F probably damaging Het
Fbln1 A G 15: 85,124,917 (GRCm39) D475G probably damaging Het
Fshr T A 17: 89,293,590 (GRCm39) I363F probably benign Het
Gapvd1 A G 2: 34,568,635 (GRCm39) L1328P probably damaging Het
Hcfc2 T A 10: 82,547,659 (GRCm39) probably null Het
Ifi209 C A 1: 173,470,198 (GRCm39) T262K probably damaging Het
Kif2b T A 11: 91,467,411 (GRCm39) I291F possibly damaging Het
Lrp1b T A 2: 40,712,641 (GRCm39) D3231V Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nudcd1 T C 15: 44,268,754 (GRCm39) K209E probably benign Het
Nup98 C T 7: 101,802,464 (GRCm39) probably null Het
Odad3 T C 9: 21,904,193 (GRCm39) D361G possibly damaging Het
Or2ag2 T C 7: 106,485,829 (GRCm39) Q65R probably damaging Het
Or2j6 T A 7: 139,980,234 (GRCm39) I242F probably benign Het
Pign T C 1: 105,480,122 (GRCm39) I851V probably benign Het
Pkd1l3 T A 8: 110,341,204 (GRCm39) L19Q unknown Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekhm2 A G 4: 141,355,150 (GRCm39) L959P probably benign Het
Prkcg T C 7: 3,378,459 (GRCm39) I627T possibly damaging Het
Prl7b1 A T 13: 27,791,031 (GRCm39) M18K probably benign Het
Ptpn3 T A 4: 57,265,092 (GRCm39) probably null Het
Rp1 A T 1: 4,240,457 (GRCm39) F899I unknown Het
Sis T A 3: 72,832,431 (GRCm39) Y1026F probably benign Het
Slc4a10 T G 2: 62,127,194 (GRCm39) V879G probably damaging Het
Specc1l T C 10: 75,082,251 (GRCm39) I549T probably benign Het
Spmip11 T A 15: 98,483,250 (GRCm39) V60E probably damaging Het
Sprr2a3 G A 3: 92,196,066 (GRCm39) V58M unknown Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Syne2 C T 12: 76,106,209 (GRCm39) H785Y probably benign Het
Tat T A 8: 110,718,242 (GRCm39) N42K probably benign Het
Tmem184a C T 5: 139,792,744 (GRCm39) A271T probably benign Het
Tmprss11d T C 5: 86,451,493 (GRCm39) I411V probably damaging Het
Ttn T C 2: 76,733,872 (GRCm39) I4468V unknown Het
Vcam1 T C 3: 115,909,734 (GRCm39) N531S possibly damaging Het
Vmn1r257 C T 7: 22,391,343 (GRCm39) V134I probably benign Het
Xcl1 T C 1: 164,763,041 (GRCm39) T7A unknown Het
Zc3h11a A G 1: 133,565,173 (GRCm39) V242A probably benign Het
Zc3h7a A T 16: 10,971,025 (GRCm39) Y335N probably benign Het
Zp2 T C 7: 119,731,731 (GRCm39) I675V unknown 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
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'- TTCTGGATCCACCTTTGGGG -3'
(R):5'- TCAGCCATAAGGAGGACTAATAAAC -3'

Sequencing Primer
(F):5'- GTGCTTTGGAGGGAGGC -3'
(R):5'- CAAGTCAGATAGGCTAAGGCGC -3'
Posted On 2019-11-26