Incidental Mutation 'R6032:Fbxl19'
ID 480451
Institutional Source Beutler Lab
Gene Symbol Fbxl19
Ensembl Gene ENSMUSG00000030811
Gene Name F-box and leucine-rich repeat protein 19
Synonyms Fbl19
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R6032 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 127343715-127368655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127360437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 439 (R439C)
Ref Sequence ENSEMBL: ENSMUSP00000140303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033081] [ENSMUST00000186116] [ENSMUST00000186207] [ENSMUST00000188580] [ENSMUST00000206893]
AlphaFold Q6PB97
Predicted Effect probably damaging
Transcript: ENSMUST00000033081
AA Change: R439C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033081
Gene: ENSMUSG00000030811
AA Change: R439C

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.7e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 166 183 N/A INTRINSIC
low complexity region 302 325 N/A INTRINSIC
low complexity region 355 377 N/A INTRINSIC
FBOX 404 444 4.6e-4 SMART
low complexity region 509 520 N/A INTRINSIC
LRR 576 601 3.58e1 SMART
LRR 631 656 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186116
AA Change: R147C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140083
Gene: ENSMUSG00000030811
AA Change: R147C

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 63 85 N/A INTRINSIC
FBOX 112 152 3e-6 SMART
low complexity region 217 228 N/A INTRINSIC
LRR 284 309 1.5e-1 SMART
LRR 339 364 5.3e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000186207
AA Change: R439C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140303
Gene: ENSMUSG00000030811
AA Change: R439C

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.7e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 166 183 N/A INTRINSIC
low complexity region 302 325 N/A INTRINSIC
low complexity region 355 377 N/A INTRINSIC
FBOX 404 444 4.6e-4 SMART
low complexity region 509 520 N/A INTRINSIC
LRR 576 601 3.58e1 SMART
LRR 631 656 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188580
AA Change: R323C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140021
Gene: ENSMUSG00000030811
AA Change: R323C

DomainStartEndE-ValueType
Pfam:zf-CXXC 11 57 1.3e-16 PFAM
PHD 67 129 4e-4 SMART
low complexity region 186 209 N/A INTRINSIC
low complexity region 239 261 N/A INTRINSIC
FBOX 288 328 4.6e-4 SMART
low complexity region 393 404 N/A INTRINSIC
LRR 460 485 3.58e1 SMART
LRR 515 540 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000206893
AA Change: R396C

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.5772 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.0%
  • 20x: 85.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aoc2 G A 11: 101,216,627 (GRCm39) V237M probably damaging Het
Aplp2 C T 9: 31,062,240 (GRCm39) R672H probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Kcns2 T C 15: 34,839,080 (GRCm39) F148L probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Rpap2 A C 5: 107,745,661 (GRCm39) D3A probably damaging Het
Shisa9 T C 16: 11,802,772 (GRCm39) F110L possibly damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging Het
Other mutations in Fbxl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0559:Fbxl19 UTSW 7 127,349,390 (GRCm39) missense possibly damaging 0.51
R1933:Fbxl19 UTSW 7 127,350,101 (GRCm39) missense probably benign
R2280:Fbxl19 UTSW 7 127,347,540 (GRCm39) missense possibly damaging 0.80
R2935:Fbxl19 UTSW 7 127,351,432 (GRCm39) missense probably damaging 0.97
R5580:Fbxl19 UTSW 7 127,350,168 (GRCm39) nonsense probably null
R6032:Fbxl19 UTSW 7 127,360,437 (GRCm39) missense probably damaging 1.00
R6054:Fbxl19 UTSW 7 127,351,681 (GRCm39) missense probably damaging 0.99
R6540:Fbxl19 UTSW 7 127,347,525 (GRCm39) utr 5 prime probably benign
R6825:Fbxl19 UTSW 7 127,349,187 (GRCm39) missense probably damaging 0.99
R7136:Fbxl19 UTSW 7 127,349,217 (GRCm39) missense possibly damaging 0.92
R8327:Fbxl19 UTSW 7 127,347,520 (GRCm39) nonsense probably null
X0060:Fbxl19 UTSW 7 127,366,975 (GRCm39) missense probably benign 0.28
Z1176:Fbxl19 UTSW 7 127,360,447 (GRCm39) frame shift probably null
Predicted Primers
Posted On 2017-06-26