Incidental Mutation 'R5909:Fbll1'
ID 460862
Institutional Source Beutler Lab
Gene Symbol Fbll1
Ensembl Gene ENSMUSG00000051062
Gene Name fibrillarin-like 1
Synonyms
MMRRC Submission 044106-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R5909 (G1)
Quality Score 181
Status Not validated
Chromosome 11
Chromosomal Location 35688209-35689711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35689159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 35 (R35C)
Ref Sequence ENSEMBL: ENSMUSP00000128889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160726]
AlphaFold Q80WS3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120504
Predicted Effect unknown
Transcript: ENSMUST00000160726
AA Change: R35C
SMART Domains Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: R35C

DomainStartEndE-ValueType
low complexity region 5 77 N/A INTRINSIC
Fibrillarin 82 309 1.21e-170 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T C 9: 30,873,224 (GRCm39) S810P probably benign Het
Adcy7 A T 8: 89,052,124 (GRCm39) I931F probably damaging Het
Alcam G T 16: 52,111,356 (GRCm39) Q248K probably benign Het
Astn1 A C 1: 158,429,507 (GRCm39) R750S probably damaging Het
Atp1a2 A T 1: 172,114,797 (GRCm39) N329K probably damaging Het
Bcl6 A G 16: 23,791,556 (GRCm39) V266A probably benign Het
Bdp1 A G 13: 100,228,794 (GRCm39) V278A probably benign Het
Ccdc162 T C 10: 41,437,111 (GRCm39) E493G probably damaging Het
Cpvl T C 6: 53,909,413 (GRCm39) Y241C probably damaging Het
Ddx55 T C 5: 124,704,913 (GRCm39) M390T probably benign Het
Ero1b A G 13: 12,594,139 (GRCm39) E102G probably benign Het
Etnk1 A G 6: 143,143,164 (GRCm39) D273G probably benign Het
Exoc3 A G 13: 74,347,643 (GRCm39) V109A probably damaging Het
F830016B08Rik T A 18: 60,433,091 (GRCm39) I58N probably damaging Het
Fancd2 T A 6: 113,538,672 (GRCm39) V589E probably benign Het
Fnbp1 A G 2: 30,938,211 (GRCm39) probably null Het
Glce G T 9: 61,967,426 (GRCm39) A575D probably damaging Het
Ift20 T A 11: 78,430,867 (GRCm39) M70K possibly damaging Het
Impg2 T C 16: 56,078,499 (GRCm39) V487A probably damaging Het
Isx A G 8: 75,619,426 (GRCm39) D206G probably benign Het
Jak3 A G 8: 72,136,875 (GRCm39) I684V possibly damaging Het
Kdm5d G A Y: 941,306 (GRCm39) S1169N probably benign Het
Krt35 A T 11: 99,986,639 (GRCm39) L125Q probably damaging Het
Lama4 G A 10: 38,948,855 (GRCm39) A873T probably benign Het
Lrch4 T C 5: 137,632,127 (GRCm39) S74P possibly damaging Het
Maneal A T 4: 124,750,966 (GRCm39) Y263* probably null Het
Mcat C T 15: 83,432,116 (GRCm39) A251T probably benign Het
Mup3 T G 4: 62,004,244 (GRCm39) T90P probably benign Het
Mybpc2 G A 7: 44,156,515 (GRCm39) A812V probably damaging Het
Naa15 T C 3: 51,367,485 (GRCm39) F503L probably damaging Het
Nudt8 T C 19: 4,050,727 (GRCm39) L25S possibly damaging Het
Oas1e A T 5: 120,926,972 (GRCm39) V245D probably damaging Het
Ofcc1 A G 13: 40,417,054 (GRCm39) M109T possibly damaging Het
Or4c58 A G 2: 89,674,735 (GRCm39) V194A possibly damaging Het
Or4p18 A T 2: 88,232,535 (GRCm39) F248I probably damaging Het
Phkb G T 8: 86,748,076 (GRCm39) probably null Het
Pidd1 A C 7: 141,021,183 (GRCm39) L365R probably damaging Het
Pira12 G A 7: 3,900,621 (GRCm39) T43I probably damaging Het
Pkd1l2 G A 8: 117,750,795 (GRCm39) R1739C probably benign Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkhd1l1 G T 15: 44,390,159 (GRCm39) W1425L probably damaging Het
Plxna4 A G 6: 32,494,181 (GRCm39) L145P probably damaging Het
Plxnd1 G T 6: 115,945,649 (GRCm39) D941E probably benign Het
Prdm13 G T 4: 21,683,894 (GRCm39) Q126K unknown Het
Rbm25 T A 12: 83,728,362 (GRCm39) V837E probably damaging Het
Rcc2 T A 4: 140,444,379 (GRCm39) Y357N probably damaging Het
Siglec1 A T 2: 130,919,884 (GRCm39) N882K probably damaging Het
Sox13 A G 1: 133,311,627 (GRCm39) I535T probably benign Het
Srrm2 T C 17: 24,040,291 (GRCm39) S2408P probably benign Het
Stat3 G A 11: 100,794,556 (GRCm39) T251I probably benign Het
Sulf1 A T 1: 12,929,039 (GRCm39) D102V possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem145 G T 7: 25,007,618 (GRCm39) L208F possibly damaging Het
Trim17 A T 11: 58,859,506 (GRCm39) E240V probably damaging Het
Trim43b A T 9: 88,967,451 (GRCm39) I395K possibly damaging Het
Trmt61a C A 12: 111,647,292 (GRCm39) H130N probably damaging Het
Unc5b A C 10: 60,608,138 (GRCm39) L654R probably damaging Het
Vmn1r66 A T 7: 10,008,269 (GRCm39) S255T probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb10 T C 3: 9,345,109 (GRCm39) F677S probably benign Het
Zfp493 T A 13: 67,934,717 (GRCm39) C223* probably null 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
R4195:Fbll1 UTSW 11 35,688,493 (GRCm39) missense possibly damaging 0.93
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
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'- AGGCACCATGTTCAGTGTG -3'
(R):5'- AATTTGTCCCCATTCCGCAG -3'

Sequencing Primer
(F):5'- ACCATGTTCAGTGTGACCAG -3'
(R):5'- CATTCCGCAGCAACCGC -3'
Posted On 2017-02-28