Incidental Mutation 'R7053:Rffl'
ID 547724
Institutional Source Beutler Lab
Gene Symbol Rffl
Ensembl Gene ENSMUSG00000020696
Gene Name ring finger and FYVE like domain containing protein
Synonyms fring, 4930516L10Rik, Carp2, rififylin, 1700051E09Rik, Carp-2
MMRRC Submission 045150-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 82694645-82762065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82703497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 142 (K142R)
Ref Sequence ENSEMBL: ENSMUSP00000115846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021036] [ENSMUST00000071152] [ENSMUST00000074515] [ENSMUST00000093975] [ENSMUST00000103218] [ENSMUST00000108173] [ENSMUST00000126660]
AlphaFold Q6ZQM0
Predicted Effect possibly damaging
Transcript: ENSMUST00000021036
AA Change: K107R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021036
Gene: ENSMUSG00000020696
AA Change: K107R

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 damaging
Transcript: ENSMUST00000071152
AA Change: K142R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071150
Gene: ENSMUSG00000020696
AA Change: K142R

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: K107R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074108
Gene: ENSMUSG00000020696
AA Change: K107R

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: K121R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091510
Gene: ENSMUSG00000020696
AA Change: K121R

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: K107R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099507
Gene: ENSMUSG00000020696
AA Change: K107R

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: K107R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103808
Gene: ENSMUSG00000020696
AA Change: K107R

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 null
Transcript: ENSMUST00000126660
AA Change: K142R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115846
Gene: ENSMUSG00000020696
AA Change: K142R

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,021,836 (GRCm39) C551* probably null Het
Aldh1l1 C A 6: 90,540,420 (GRCm39) T235K possibly damaging Het
Atp6v0a2 A G 5: 124,783,923 (GRCm39) E257G probably damaging Het
AW146154 A G 7: 41,131,988 (GRCm39) probably null Het
BC048507 T C 13: 68,011,772 (GRCm39) Y50H probably benign Het
Brip1 T C 11: 86,083,791 (GRCm39) N77D possibly damaging Het
Ccdc13 T C 9: 121,662,904 (GRCm39) E37G probably damaging Het
Ccn6 A G 10: 39,034,297 (GRCm39) Y102H probably damaging Het
Col27a1 T A 4: 63,251,404 (GRCm39) probably benign Het
Corin T A 5: 72,458,870 (GRCm39) I960L probably benign Het
Csnk2b A G 17: 35,335,422 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,676,801 (GRCm39) S182G probably benign Het
Dennd1a A G 2: 37,851,666 (GRCm39) L74P probably damaging Het
Dip2c A G 13: 9,660,740 (GRCm39) D838G probably damaging Het
Dkkl1 G T 7: 44,857,022 (GRCm39) Q182K probably damaging Het
Dnai2 T C 11: 114,629,521 (GRCm39) S183P probably damaging Het
Dnhd1 T C 7: 105,344,161 (GRCm39) L1835P probably damaging Het
Espl1 T C 15: 102,225,328 (GRCm39) probably null Het
Fam174a C T 1: 95,252,953 (GRCm39) A185V probably damaging Het
Fhip1b C T 7: 105,033,779 (GRCm39) G479D probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Grid2 G T 6: 64,677,402 (GRCm39) A74S unknown Het
Gsdma3 T A 11: 98,520,621 (GRCm39) M84K possibly damaging Het
Hlcs A T 16: 94,068,874 (GRCm39) S262R possibly damaging Het
Lrp1 A G 10: 127,376,963 (GRCm39) C4205R probably damaging Het
Mdc1 C T 17: 36,157,218 (GRCm39) A181V probably benign Het
Mdga2 T A 12: 66,736,158 (GRCm39) I357F probably benign Het
Mfn1 A G 3: 32,586,114 (GRCm39) I21V probably benign Het
Mgat4b C T 11: 50,124,367 (GRCm39) T409M probably damaging Het
Mgat4d G T 8: 84,098,261 (GRCm39) K341N probably damaging Het
Mpo A T 11: 87,694,336 (GRCm39) N109Y probably damaging Het
Mvp T C 7: 126,586,776 (GRCm39) Q785R possibly damaging Het
Nim1k A G 13: 120,189,145 (GRCm39) V88A probably damaging Het
Oasl2 A T 5: 115,049,291 (GRCm39) I464L possibly damaging Het
Or5m11b G T 2: 85,806,358 (GRCm39) C257F possibly damaging Het
Pkd1l2 A G 8: 117,740,681 (GRCm39) F2139L probably damaging Het
Pop1 T G 15: 34,530,421 (GRCm39) S940A probably benign Het
Ppp1r9a T A 6: 4,905,670 (GRCm39) M75K probably damaging Het
Prdm15 G A 16: 97,595,742 (GRCm39) Q1029* probably null Het
Rhou A G 8: 124,380,934 (GRCm39) probably benign Het
Rp1l1 A T 14: 64,268,958 (GRCm39) T1515S possibly damaging Het
Serpina1b T A 12: 103,698,688 (GRCm39) S54C possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Taok3 T A 5: 117,390,627 (GRCm39) D529E probably benign Het
Tmem18 T A 12: 30,634,506 (GRCm39) M1K probably null Het
Tmem269 T A 4: 119,066,464 (GRCm39) H198L probably damaging Het
Tnrc18 A G 5: 142,772,984 (GRCm39) V432A unknown Het
Ttc6 A T 12: 57,707,318 (GRCm39) T742S probably benign Het
Uhrf2 T A 19: 30,069,519 (GRCm39) C749S probably damaging Het
Unc13c G A 9: 73,839,579 (GRCm39) T424I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r61 A C 7: 41,916,557 (GRCm39) D390A probably damaging Het
Xpo7 A G 14: 70,922,298 (GRCm39) probably null Het
Zfp948 T A 17: 21,805,121 (GRCm39) L37* probably null Het
Other mutations in Rffl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Rffl APN 11 82,709,310 (GRCm39) missense probably damaging 1.00
IGL01120:Rffl APN 11 82,696,848 (GRCm39) missense probably damaging 1.00
IGL01295:Rffl APN 11 82,709,283 (GRCm39) missense probably damaging 1.00
IGL01635:Rffl APN 11 82,703,378 (GRCm39) missense probably benign 0.00
R0127:Rffl UTSW 11 82,703,458 (GRCm39) missense probably damaging 1.00
R0195:Rffl UTSW 11 82,700,989 (GRCm39) missense probably damaging 1.00
R2125:Rffl UTSW 11 82,709,264 (GRCm39) missense probably damaging 0.99
R5030:Rffl UTSW 11 82,703,543 (GRCm39) nonsense probably null
R5104:Rffl UTSW 11 82,703,619 (GRCm39) nonsense probably null
R5283:Rffl UTSW 11 82,703,615 (GRCm39) missense probably damaging 1.00
R5483:Rffl UTSW 11 82,703,549 (GRCm39) splice site probably null
R5828:Rffl UTSW 11 82,709,244 (GRCm39) missense probably damaging 1.00
R5974:Rffl UTSW 11 82,696,977 (GRCm39) missense probably damaging 1.00
R6651:Rffl UTSW 11 82,703,605 (GRCm39) missense probably damaging 1.00
R6951:Rffl UTSW 11 82,736,576 (GRCm39) critical splice donor site probably null
R7587:Rffl UTSW 11 82,700,974 (GRCm39) missense probably damaging 1.00
R7782:Rffl UTSW 11 82,703,595 (GRCm39) nonsense probably null
R8192:Rffl UTSW 11 82,703,549 (GRCm39) splice site probably null
R8243:Rffl UTSW 11 82,703,621 (GRCm39) missense probably damaging 1.00
R8809:Rffl UTSW 11 82,700,864 (GRCm39) missense probably damaging 1.00
R9044:Rffl UTSW 11 82,701,020 (GRCm39) missense probably benign 0.01
R9217:Rffl UTSW 11 82,703,633 (GRCm39) missense possibly damaging 0.46
R9569:Rffl UTSW 11 82,703,264 (GRCm39) missense probably benign 0.04
RF009:Rffl UTSW 11 82,736,598 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGAGGTGACTTGTGCAG -3'
(R):5'- CTGTTCCTTCAAGCTGACGC -3'

Sequencing Primer
(F):5'- AGGAGGCACTGTGCTGG -3'
(R):5'- TCAAGCTGACGCGCTCTC -3'
Posted On 2019-05-13