Incidental Mutation 'IGL01295:Rffl'
ID73073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rffl
Ensembl Gene ENSMUSG00000020696
Gene Namering finger and FYVE like domain containing protein
Synonyms1700051E09Rik, Carp-2, 4930516L10Rik, rififylin, fring, Carp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01295
Quality Score
Status
Chromosome11
Chromosomal Location82802449-82871210 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82818457 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 47 (C47S)
Ref Sequence ENSEMBL: ENSMUSP00000103808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021036] [ENSMUST00000071152] [ENSMUST00000074515] [ENSMUST00000093975] [ENSMUST00000103218] [ENSMUST00000108173] [ENSMUST00000126660]
Predicted Effect probably damaging
Transcript: ENSMUST00000021036
AA Change: C47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: C47S

DomainStartEndE-ValueType
PDB:1Y02|A 27 145 3e-75 PDB
Blast:RING 47 88 2e-19 BLAST
low complexity region 163 175 N/A INTRINSIC
RING 288 322 3.47e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000071152
AA Change: C82S

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: C82S

DomainStartEndE-ValueType
PDB:1Y02|A 62 180 1e-74 PDB
Blast:RING 82 123 2e-19 BLAST
low complexity region 198 210 N/A INTRINSIC
RING 351 385 3.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074515
AA Change: C47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: C47S

DomainStartEndE-ValueType
PDB:1Y02|A 27 145 4e-75 PDB
Blast:RING 47 88 2e-19 BLAST
low complexity region 163 175 N/A INTRINSIC
RING 316 350 3.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000093975
AA Change: C61S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: C61S

DomainStartEndE-ValueType
PDB:1Y02|A 41 159 6e-75 PDB
Blast:RING 61 102 2e-19 BLAST
low complexity region 177 189 N/A INTRINSIC
RING 330 364 3.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103218
AA Change: C47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: C47S

DomainStartEndE-ValueType
PDB:1Y02|A 27 145 1e-76 PDB
SCOP:d1vfya_ 46 86 9e-5 SMART
Blast:RING 47 88 4e-20 BLAST
low complexity region 163 175 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108173
AA Change: C47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: C47S

DomainStartEndE-ValueType
PDB:1Y02|A 27 145 4e-75 PDB
Blast:RING 47 88 2e-19 BLAST
low complexity region 163 175 N/A INTRINSIC
RING 316 350 3.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000126660
AA Change: C82S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696
AA Change: C82S

DomainStartEndE-ValueType
PDB:1Y02|A 62 142 9e-50 PDB
SCOP:d1vfya_ 81 121 1e-3 SMART
Blast:RING 82 123 7e-21 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an inactivating targeted mutation of this gene are born at the expected Mendelian frequency; they are viable and fertile and exhibit no apparent abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,661,936 L691I possibly damaging Het
Ano7 A G 1: 93,380,478 D77G probably benign Het
Apol10b A T 15: 77,585,596 V127E probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Atn1 T C 6: 124,749,276 E80G probably damaging Het
Carmil2 T C 8: 105,695,516 M1139T probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Celf5 G T 10: 81,467,080 probably benign Het
Chd6 G A 2: 160,988,370 probably benign Het
Col12a1 A T 9: 79,643,926 V2136E probably damaging Het
Col4a1 G T 8: 11,236,075 probably benign Het
Dph1 A G 11: 75,180,949 probably benign Het
Dvl2 G T 11: 70,009,584 V735F possibly damaging Het
Eif3b A G 5: 140,441,740 I709V possibly damaging Het
Elp5 C T 11: 69,968,470 probably benign Het
Exd1 A T 2: 119,530,079 probably benign Het
Fbxl4 C A 4: 22,427,348 R530S probably benign Het
Fmo4 A T 1: 162,799,124 D284E probably damaging Het
Fn3krp A G 11: 121,421,554 Y31C probably damaging Het
Galnt14 G T 17: 73,504,919 Q436K probably benign Het
Gm5114 A T 7: 39,407,817 W793R probably damaging Het
Gm9376 T G 14: 118,267,647 S164A possibly damaging Het
Gtf2ird2 G A 5: 134,192,764 D69N probably damaging Het
Hfm1 A C 5: 106,917,606 M69R possibly damaging Het
Ighv9-1 A C 12: 114,093,999 S94A probably damaging Het
Ikzf2 C T 1: 69,577,987 R67H probably benign Het
Ipcef1 A T 10: 6,900,642 F316L probably damaging Het
Kdsr A G 1: 106,755,457 V62A possibly damaging Het
Kif23 A T 9: 61,932,129 C279S possibly damaging Het
Klf5 C T 14: 99,301,721 T110I probably benign Het
Klhl25 T A 7: 75,865,872 H175Q probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Nfatc4 T C 14: 55,832,505 V710A probably benign Het
Olfr1404 A T 1: 173,215,873 Y74F probably damaging Het
Olfr68 C T 7: 103,778,241 V35I probably benign Het
Optn G A 2: 5,033,156 T409I possibly damaging Het
Pabpc2 T A 18: 39,774,029 Y116N probably damaging Het
Pafah1b1 G T 11: 74,683,647 R238S probably damaging Het
Pdzd9 C T 7: 120,668,395 G66R probably damaging Het
Pih1d1 T C 7: 45,159,964 L285P probably damaging Het
Pirb G A 7: 3,717,406 P323S probably damaging Het
Pkd1l1 A G 11: 8,933,685 F396L possibly damaging Het
Pla2g4d G A 2: 120,281,726 T108M probably damaging Het
Plin3 T C 17: 56,279,814 Y411C probably damaging Het
Ppfibp2 T C 7: 107,747,539 probably benign Het
Prrc2c T C 1: 162,682,492 S995G probably damaging Het
Ptf1a T C 2: 19,446,618 I253T probably damaging Het
Ptprb A G 10: 116,362,648 I1684V probably benign Het
Ptprk G A 10: 28,475,178 V556I probably benign Het
Rnf17 C T 14: 56,463,064 Q569* probably null Het
Shprh A G 10: 11,183,868 E1121G probably damaging Het
Slc1a5 A G 7: 16,795,862 D402G probably damaging Het
Slc24a3 G A 2: 145,616,714 probably null Het
Slc2a13 T A 15: 91,350,132 probably null Het
Slc30a8 A T 15: 52,306,559 N61Y possibly damaging Het
Slitrk6 A T 14: 110,751,436 S280T possibly damaging Het
Smad2 G A 18: 76,302,430 A365T probably benign Het
Tcp10b C T 17: 13,080,160 P367S probably damaging Het
Tdp1 A G 12: 99,891,670 N163D probably benign Het
Thbs1 A G 2: 118,118,327 D488G possibly damaging Het
Trappc12 C T 12: 28,746,762 S257N probably damaging Het
Treml1 T C 17: 48,365,599 probably benign Het
Ugt2b36 A G 5: 87,080,885 V234A probably damaging Het
Vmn2r86 T G 10: 130,453,026 H202P probably damaging Het
Vmn2r87 C A 10: 130,472,009 V787F probably damaging Het
Wbp2nl T A 15: 82,306,418 M129K probably damaging Het
Zdhhc15 T C X: 104,544,913 probably null Het
Other mutations in Rffl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Rffl APN 11 82818484 missense probably damaging 1.00
IGL01120:Rffl APN 11 82806022 missense probably damaging 1.00
IGL01635:Rffl APN 11 82812552 missense probably benign 0.00
R0127:Rffl UTSW 11 82812632 missense probably damaging 1.00
R0195:Rffl UTSW 11 82810163 missense probably damaging 1.00
R2125:Rffl UTSW 11 82818438 missense probably damaging 0.99
R5030:Rffl UTSW 11 82812717 nonsense probably null
R5104:Rffl UTSW 11 82812793 nonsense probably null
R5283:Rffl UTSW 11 82812789 missense probably damaging 1.00
R5483:Rffl UTSW 11 82812723 synonymous probably null
R5828:Rffl UTSW 11 82818418 missense probably damaging 1.00
R5974:Rffl UTSW 11 82806151 missense probably damaging 1.00
R6651:Rffl UTSW 11 82812779 missense probably damaging 1.00
R6951:Rffl UTSW 11 82845750 critical splice donor site probably null
R7053:Rffl UTSW 11 82812671 missense probably null 1.00
R7587:Rffl UTSW 11 82810148 missense probably damaging 1.00
R7782:Rffl UTSW 11 82812769 nonsense probably null
RF009:Rffl UTSW 11 82845772 missense probably benign 0.00
Posted On2013-10-07