Incidental Mutation 'R5909:Fbll1'
ID460862
Institutional Source Beutler Lab
Gene Symbol Fbll1
Ensembl Gene ENSMUSG00000051062
Gene Namefibrillarin-like 1
Synonyms
MMRRC Submission 044106-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #R5909 (G1)
Quality Score181
Status Not validated
Chromosome11
Chromosomal Location35797382-35798884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35798332 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 35 (R35C)
Ref Sequence ENSEMBL: ENSMUSP00000128889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160726]
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: 30,961,928 S810P probably benign Het
Adcy7 A T 8: 88,325,496 I931F probably damaging Het
Alcam G T 16: 52,290,993 Q248K probably benign Het
Astn1 A C 1: 158,601,937 R750S probably damaging Het
Atp1a2 A T 1: 172,287,230 N329K probably damaging Het
Bcl6 A G 16: 23,972,806 V266A probably benign Het
Bdp1 A G 13: 100,092,286 V278A probably benign Het
Ccdc162 T C 10: 41,561,115 E493G probably damaging Het
Cpvl T C 6: 53,932,428 Y241C probably damaging Het
Ddx55 T C 5: 124,566,850 M390T probably benign Het
Ero1lb A G 13: 12,579,258 E102G probably benign Het
Etnk1 A G 6: 143,197,438 D273G probably benign Het
Exoc3 A G 13: 74,199,524 V109A probably damaging Het
F830016B08Rik T A 18: 60,300,019 I58N probably damaging Het
Fancd2 T A 6: 113,561,711 V589E probably benign Het
Fnbp1 A G 2: 31,048,199 probably null Het
Glce G T 9: 62,060,144 A575D probably damaging Het
Gm14548 G A 7: 3,897,622 T43I probably damaging Het
Ift20 T A 11: 78,540,041 M70K possibly damaging Het
Impg2 T C 16: 56,258,136 V487A probably damaging Het
Isx A G 8: 74,892,798 D206G probably benign Het
Jak3 A G 8: 71,684,231 I684V possibly damaging Het
Kdm5d G A Y: 941,306 S1169N probably benign Het
Krt35 A T 11: 100,095,813 L125Q probably damaging Het
Lama4 G A 10: 39,072,859 A873T probably benign Het
Lrch4 T C 5: 137,633,865 S74P possibly damaging Het
Maneal A T 4: 124,857,173 Y263* probably null Het
Mcat C T 15: 83,547,915 A251T probably benign Het
Mup3 T G 4: 62,086,007 T90P probably benign Het
Mybpc2 G A 7: 44,507,091 A812V probably damaging Het
Naa15 T C 3: 51,460,064 F503L probably damaging Het
Nudt8 T C 19: 4,000,727 L25S possibly damaging Het
Oas1e A T 5: 120,788,907 V245D probably damaging Het
Ofcc1 A G 13: 40,263,578 M109T possibly damaging Het
Olfr1179 A T 2: 88,402,191 F248I probably damaging Het
Olfr48 A G 2: 89,844,391 V194A possibly damaging Het
Phkb G T 8: 86,021,447 probably null Het
Pidd1 A C 7: 141,441,270 L365R probably damaging Het
Pkd1l2 G A 8: 117,024,056 R1739C probably benign Het
Pkdrej A T 15: 85,818,296 D1146E possibly damaging Het
Pkhd1l1 G T 15: 44,526,763 W1425L probably damaging Het
Plxna4 A G 6: 32,517,246 L145P probably damaging Het
Plxnd1 G T 6: 115,968,688 D941E probably benign Het
Prdm13 G T 4: 21,683,894 Q126K unknown Het
Rbm25 T A 12: 83,681,588 V837E probably damaging Het
Rcc2 T A 4: 140,717,068 Y357N probably damaging Het
Siglec1 A T 2: 131,077,964 N882K probably damaging Het
Sox13 A G 1: 133,383,889 I535T probably benign Het
Srrm2 T C 17: 23,821,317 S2408P probably benign Het
Stat3 G A 11: 100,903,730 T251I probably benign Het
Sulf1 A T 1: 12,858,815 D102V possibly damaging Het
Tbc1d2 C T 4: 46,629,912 G252R probably benign Het
Tmem145 G T 7: 25,308,193 L208F possibly damaging Het
Trim17 A T 11: 58,968,680 E240V probably damaging Het
Trim43b A T 9: 89,085,398 I395K possibly damaging Het
Trmt61a C A 12: 111,680,858 H130N probably damaging Het
Unc5b A C 10: 60,772,359 L654R probably damaging Het
Vmn1r66 A T 7: 10,274,342 S255T probably benign Het
Ylpm1 C T 12: 85,040,886 P1148L probably damaging Het
Zbtb10 T C 3: 9,280,049 F677S probably benign Het
Zfp493 T A 13: 67,786,598 C223* probably null Het
Other mutations in Fbll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Fbll1 APN 11 35798047 missense probably benign 0.00
IGL01559:Fbll1 APN 11 35797545 missense probably damaging 1.00
IGL01663:Fbll1 APN 11 35797821 missense probably damaging 1.00
IGL01799:Fbll1 APN 11 35798109 missense possibly damaging 0.71
IGL01988:Fbll1 APN 11 35797901 missense probably benign
R0088:Fbll1 UTSW 11 35798140 missense possibly damaging 0.72
R3087:Fbll1 UTSW 11 35798190 missense probably damaging 1.00
R3738:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R3739:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R3854:Fbll1 UTSW 11 35797699 missense probably benign 0.01
R3935:Fbll1 UTSW 11 35797648 missense probably damaging 1.00
R4034:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R4195:Fbll1 UTSW 11 35797666 missense possibly damaging 0.93
R4195:Fbll1 UTSW 11 35797872 missense possibly damaging 0.75
R4196:Fbll1 UTSW 11 35797872 missense possibly damaging 0.75
R4824:Fbll1 UTSW 11 35797825 missense probably damaging 1.00
R4923:Fbll1 UTSW 11 35797580 missense probably benign 0.02
R5669:Fbll1 UTSW 11 35797584 missense probably benign 0.09
R6265:Fbll1 UTSW 11 35797809 missense probably damaging 0.98
R8078:Fbll1 UTSW 11 35797901 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGCACCATGTTCAGTGTG -3'
(R):5'- AATTTGTCCCCATTCCGCAG -3'

Sequencing Primer
(F):5'- ACCATGTTCAGTGTGACCAG -3'
(R):5'- CATTCCGCAGCAACCGC -3'
Posted On2017-02-28