Incidental Mutation 'IGL01635:Rffl'
ID92963
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 #IGL01635
Quality Score
Status
Chromosome11
Chromosomal Location82802449-82871210 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 82812552 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 147 (R147C)
Ref Sequence ENSEMBL: ENSMUSP00000099507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021036] [ENSMUST00000071152] [ENSMUST00000074515] [ENSMUST00000093975] [ENSMUST00000103218] [ENSMUST00000108173] [ENSMUST00000126660]
Predicted Effect probably benign
Transcript: ENSMUST00000021036
AA Change: R147C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: R147C

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 probably benign
Transcript: ENSMUST00000071152
AA Change: R182C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: R182C

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 benign
Transcript: ENSMUST00000074515
AA Change: R147C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: R147C

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 benign
Transcript: ENSMUST00000093975
AA Change: R161C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: R161C

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 benign
Transcript: ENSMUST00000103218
AA Change: R147C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: R147C

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 benign
Transcript: ENSMUST00000108173
AA Change: R147C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: R147C

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 benign
Transcript: ENSMUST00000126660
SMART Domains Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T C 19: 23,559,015 Y176C probably damaging Het
Abat A G 16: 8,614,046 I396V probably benign Het
Bag2 T A 1: 33,746,932 N103I possibly damaging Het
Chd1 T C 17: 17,378,596 S107P probably damaging Het
Chd3 A T 11: 69,361,250 probably benign Het
Cytip T C 2: 58,148,231 E106G probably damaging Het
Dcp1b T A 6: 119,206,537 I195N probably damaging Het
Ddhd1 C A 14: 45,629,580 V322F probably null Het
Esrrg A T 1: 188,198,600 D296V probably damaging Het
F5 A G 1: 164,207,858 K1867R probably benign Het
Gm10717 C A 9: 3,025,506 F30L possibly damaging Het
Gm10717 C A 9: 3,025,511 A32D probably damaging Het
Gm3550 A T 18: 34,737,742 M110L probably benign Het
Gstt1 G T 10: 75,794,117 T54K probably damaging Het
Ighmbp2 C T 19: 3,267,265 V536I possibly damaging Het
Mphosph8 A T 14: 56,672,546 R119W probably damaging Het
Negr1 A G 3: 156,562,292 D33G probably benign Het
Olfr168 A G 16: 19,530,095 V275A probably benign Het
Olfr77 A T 9: 19,920,484 I92L probably damaging Het
Plbd2 T C 5: 120,499,049 D116G probably damaging Het
Pold1 A T 7: 44,535,977 V733E probably damaging Het
Prorsd1 T A 11: 29,513,467 K98N probably benign Het
Rasal2 G T 1: 157,163,824 L611I probably damaging Het
Sdad1 A G 5: 92,297,160 M315T probably damaging Het
Shprh T A 10: 11,170,019 Y861* probably null Het
Six4 G A 12: 73,109,197 A324V probably benign Het
Stab2 T C 10: 86,981,128 D135G probably benign Het
Tada3 T C 6: 113,376,012 H12R probably benign Het
Zap70 A G 1: 36,771,157 D116G probably damaging 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
IGL01295:Rffl APN 11 82818457 missense probably damaging 1.00
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 On2013-12-09