Incidental Mutation 'R4195:Fbll1'
ID 318537
Institutional Source Beutler Lab
Gene Symbol Fbll1
Ensembl Gene ENSMUSG00000051062
Gene Name fibrillarin-like 1
Synonyms
MMRRC Submission 041026-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R4195 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 35688209-35689711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35688493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 257 (S257P)
Ref Sequence ENSEMBL: ENSMUSP00000128889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160726]
AlphaFold Q80WS3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120504
Predicted Effect possibly damaging
Transcript: ENSMUST00000160726
AA Change: S257P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: S257P

DomainStartEndE-ValueType
low complexity region 5 77 N/A INTRINSIC
Fibrillarin 82 309 1.21e-170 SMART
Meta Mutation Damage Score 0.0770 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T G 1: 127,676,931 (GRCm39) L152R probably damaging Het
Actg2 T G 6: 83,500,155 (GRCm39) T39P probably damaging Het
Agap1 A G 1: 89,762,261 (GRCm39) E531G probably damaging Het
Alox12b A G 11: 69,060,426 (GRCm39) S661G probably benign Het
Apod T C 16: 31,116,392 (GRCm39) M113V probably benign Het
Atl3 A G 19: 7,495,911 (GRCm39) I171V possibly damaging Het
Atrn C A 2: 130,775,332 (GRCm39) T145K probably damaging Het
Cacna1f A G X: 7,475,169 (GRCm39) H57R probably damaging Het
Cdhr18 C A 14: 13,829,772 (GRCm38) V657L probably benign Het
Cldn9 T C 17: 23,902,148 (GRCm39) E159G probably damaging Het
Cnnm4 C A 1: 36,538,589 (GRCm39) H590Q probably benign Het
Col19a1 G A 1: 24,573,133 (GRCm39) S213L unknown Het
Cse1l A G 2: 166,771,899 (GRCm39) T387A probably damaging Het
Eif4enif1 T C 11: 3,193,186 (GRCm39) V675A possibly damaging Het
Frem2 A G 3: 53,446,689 (GRCm39) F2360L possibly damaging Het
G3bp2 A G 5: 92,203,275 (GRCm39) S349P probably damaging Het
Gm2396 A G 9: 88,799,715 (GRCm39) noncoding transcript Het
Gm6569 C T 15: 73,708,092 (GRCm39) P22L probably damaging Het
Itih2 T C 2: 10,120,096 (GRCm39) N314D probably damaging Het
Lman2l A C 1: 36,464,022 (GRCm39) I266M probably damaging Het
Mrps9 T G 1: 42,940,254 (GRCm39) probably benign Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Neb G T 2: 52,161,571 (GRCm39) R2074S probably damaging Het
Neb A T 2: 52,180,847 (GRCm39) H1226Q probably damaging Het
Nmi A C 2: 51,838,632 (GRCm39) S301A probably benign Het
Or11i1 A T 3: 106,729,328 (GRCm39) C182* probably null Het
Pclo A G 5: 14,727,577 (GRCm39) probably benign Het
Pkd1l1 T A 11: 8,859,929 (GRCm39) I560F probably damaging Het
Polr1e T C 4: 45,019,327 (GRCm39) Y59H probably damaging Het
Slc30a4 G A 2: 122,527,190 (GRCm39) T401M probably damaging Het
Tas1r3 T C 4: 155,947,442 (GRCm39) E81G probably damaging Het
Zfp990 A T 4: 145,263,547 (GRCm39) probably null Het
Zzz3 A G 3: 152,134,102 (GRCm39) T387A probably benign Het
Other mutations in Fbll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Fbll1 APN 11 35,688,874 (GRCm39) missense probably benign 0.00
IGL01559:Fbll1 APN 11 35,688,372 (GRCm39) missense probably damaging 1.00
IGL01663:Fbll1 APN 11 35,688,648 (GRCm39) missense probably damaging 1.00
IGL01799:Fbll1 APN 11 35,688,936 (GRCm39) missense possibly damaging 0.71
IGL01988:Fbll1 APN 11 35,688,728 (GRCm39) missense probably benign
R0088:Fbll1 UTSW 11 35,688,967 (GRCm39) missense possibly damaging 0.72
R3087:Fbll1 UTSW 11 35,689,017 (GRCm39) missense probably damaging 1.00
R3738:Fbll1 UTSW 11 35,688,505 (GRCm39) missense possibly damaging 0.88
R3739:Fbll1 UTSW 11 35,688,505 (GRCm39) missense possibly damaging 0.88
R3854:Fbll1 UTSW 11 35,688,526 (GRCm39) missense probably benign 0.01
R3935:Fbll1 UTSW 11 35,688,475 (GRCm39) missense probably damaging 1.00
R4034:Fbll1 UTSW 11 35,688,505 (GRCm39) missense possibly damaging 0.88
R4195:Fbll1 UTSW 11 35,688,699 (GRCm39) missense possibly damaging 0.75
R4196:Fbll1 UTSW 11 35,688,699 (GRCm39) missense possibly damaging 0.75
R4824:Fbll1 UTSW 11 35,688,652 (GRCm39) missense probably damaging 1.00
R4923:Fbll1 UTSW 11 35,688,407 (GRCm39) missense probably benign 0.02
R5669:Fbll1 UTSW 11 35,688,411 (GRCm39) missense probably benign 0.09
R5909:Fbll1 UTSW 11 35,689,159 (GRCm39) missense unknown
R6265:Fbll1 UTSW 11 35,688,636 (GRCm39) missense probably damaging 0.98
R7934:Fbll1 UTSW 11 35,689,048 (GRCm39) missense unknown
R8078:Fbll1 UTSW 11 35,688,728 (GRCm39) missense probably benign
R8499:Fbll1 UTSW 11 35,688,907 (GRCm39) missense probably damaging 1.00
R8819:Fbll1 UTSW 11 35,688,802 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TGGCCTCAACTGTACACTTGG -3'
(R):5'- GGTTGAATTCTCCCATCGCG -3'

Sequencing Primer
(F):5'- GCCTCAACTGTACACTTGGGAATTG -3'
(R):5'- CGCGATCTGGTCAACGTG -3'
Posted On 2015-06-10