Incidental Mutation 'R6763:Rab11fip5'
ID 531775
Institutional Source Beutler Lab
Gene Symbol Rab11fip5
Ensembl Gene ENSMUSG00000051343
Gene Name RAB11 family interacting protein 5 (class I)
Synonyms D6Ertd32e, RIP11, 9130206P09Rik, GAF1
MMRRC Submission 044879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6763 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 85311944-85351616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85319152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 579 (L579S)
Ref Sequence ENSEMBL: ENSMUSP00000145402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]
AlphaFold Q8R361
Predicted Effect probably benign
Transcript: ENSMUST00000060837
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 8.7e-7 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
Pfam:RBD-FIP 593 640 5.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204087
AA Change: L579S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: L579S

DomainStartEndE-ValueType
C2 20 143 5.8e-9 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
low complexity region 529 547 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 687 692 N/A INTRINSIC
low complexity region 713 732 N/A INTRINSIC
low complexity region 852 887 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 1037 1052 N/A INTRINSIC
low complexity region 1068 1106 N/A INTRINSIC
low complexity region 1115 1149 N/A INTRINSIC
Pfam:RBD-FIP 1266 1313 8.5e-20 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C A 15: 102,248,457 (GRCm39) R286L probably null Het
Actrt2 A G 4: 154,751,836 (GRCm39) V100A probably damaging Het
Adra1b A G 11: 43,666,833 (GRCm39) L468P possibly damaging Het
Ankhd1 A G 18: 36,776,022 (GRCm39) E1457G probably benign Het
Aspm A T 1: 139,398,255 (GRCm39) M974L possibly damaging Het
Atp8a2 T A 14: 60,245,857 (GRCm39) I612F probably benign Het
Cabin1 A G 10: 75,582,564 (GRCm39) L284P probably damaging Het
Cand2 T A 6: 115,776,930 (GRCm39) M1106K probably benign Het
Ccbe1 A T 18: 66,194,459 (GRCm39) F376I possibly damaging Het
Ceacam14 A G 7: 17,549,268 (GRCm39) T220A probably benign Het
Celsr3 A G 9: 108,704,549 (GRCm39) D344G probably damaging Het
Chaf1b A G 16: 93,688,393 (GRCm39) K163E probably damaging Het
Clec2d C A 6: 129,161,107 (GRCm39) T68K probably benign Het
Cwc27 T C 13: 104,947,809 (GRCm39) T19A probably damaging Het
Dnah7c A T 1: 46,668,050 (GRCm39) Y1519F possibly damaging Het
E130308A19Rik A T 4: 59,752,288 (GRCm39) K467M probably damaging Het
Garnl3 T C 2: 32,944,208 (GRCm39) Y117C probably damaging Het
Gas2l3 T C 10: 89,249,231 (GRCm39) Y629C probably benign Het
Lama1 A G 17: 68,053,868 (GRCm39) N470D unknown Het
Lmtk2 T A 5: 144,110,615 (GRCm39) I445N probably damaging Het
Lrba A G 3: 86,261,570 (GRCm39) D1508G probably damaging Het
Muc5b A G 7: 141,416,021 (GRCm39) H2989R probably benign Het
Niban2 T C 2: 32,801,460 (GRCm39) probably null Het
Nln A T 13: 104,172,163 (GRCm39) W638R probably damaging Het
Nup133 T C 8: 124,671,017 (GRCm39) I127V possibly damaging Het
Nup155 C T 15: 8,165,379 (GRCm39) R672* probably null Het
Prkcb A G 7: 122,193,887 (GRCm39) Y532C probably damaging Het
Ptpro A G 6: 137,395,279 (GRCm39) probably null Het
Rtca A G 3: 116,301,398 (GRCm39) probably null Het
Sdccag8 A G 1: 176,682,193 (GRCm39) probably null Het
Svil G T 18: 5,056,437 (GRCm39) D524Y probably damaging Het
Unc80 A G 1: 66,560,636 (GRCm39) N788S probably benign Het
Wdfy4 G T 14: 32,764,469 (GRCm39) R2140S probably damaging Het
Zfp518a A G 19: 40,902,192 (GRCm39) K707R probably damaging Het
Other mutations in Rab11fip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Rab11fip5 APN 6 85,314,534 (GRCm39) missense probably damaging 1.00
IGL02471:Rab11fip5 APN 6 85,325,207 (GRCm39) missense probably damaging 0.99
IGL02725:Rab11fip5 APN 6 85,351,471 (GRCm39) missense probably damaging 0.99
IGL02737:Rab11fip5 APN 6 85,325,540 (GRCm39) missense probably damaging 1.00
PIT4812001:Rab11fip5 UTSW 6 85,318,540 (GRCm39) missense probably benign 0.38
R0627:Rab11fip5 UTSW 6 85,325,033 (GRCm39) missense probably benign 0.05
R1652:Rab11fip5 UTSW 6 85,325,279 (GRCm39) missense probably damaging 0.97
R1961:Rab11fip5 UTSW 6 85,325,973 (GRCm39) missense possibly damaging 0.87
R2106:Rab11fip5 UTSW 6 85,351,369 (GRCm39) missense probably damaging 0.98
R2142:Rab11fip5 UTSW 6 85,314,210 (GRCm39) critical splice acceptor site probably null
R4729:Rab11fip5 UTSW 6 85,351,249 (GRCm39) missense probably damaging 0.99
R5001:Rab11fip5 UTSW 6 85,324,788 (GRCm39) missense probably damaging 1.00
R5116:Rab11fip5 UTSW 6 85,325,789 (GRCm39) missense probably damaging 1.00
R5506:Rab11fip5 UTSW 6 85,351,119 (GRCm39) missense probably damaging 1.00
R5801:Rab11fip5 UTSW 6 85,314,582 (GRCm39) missense probably damaging 0.99
R6338:Rab11fip5 UTSW 6 85,318,360 (GRCm39) missense possibly damaging 0.94
R6696:Rab11fip5 UTSW 6 85,318,928 (GRCm39) missense possibly damaging 0.65
R6880:Rab11fip5 UTSW 6 85,325,827 (GRCm39) missense probably damaging 0.99
R6932:Rab11fip5 UTSW 6 85,318,540 (GRCm39) missense probably benign 0.38
R7042:Rab11fip5 UTSW 6 85,351,110 (GRCm39) missense possibly damaging 0.82
R7112:Rab11fip5 UTSW 6 85,325,176 (GRCm39) missense probably damaging 1.00
R7197:Rab11fip5 UTSW 6 85,319,137 (GRCm39) missense probably damaging 1.00
R7384:Rab11fip5 UTSW 6 85,325,312 (GRCm39) missense possibly damaging 0.47
R7395:Rab11fip5 UTSW 6 85,318,850 (GRCm39) missense probably benign
R7451:Rab11fip5 UTSW 6 85,318,538 (GRCm39) missense probably benign 0.06
R7482:Rab11fip5 UTSW 6 85,317,760 (GRCm39) missense probably benign 0.41
R8435:Rab11fip5 UTSW 6 85,314,522 (GRCm39) missense possibly damaging 0.86
R8674:Rab11fip5 UTSW 6 85,318,910 (GRCm39) missense probably benign 0.00
R9040:Rab11fip5 UTSW 6 85,324,915 (GRCm39) missense probably damaging 1.00
R9101:Rab11fip5 UTSW 6 85,317,675 (GRCm39) missense probably benign
R9129:Rab11fip5 UTSW 6 85,317,892 (GRCm39) missense probably benign
R9281:Rab11fip5 UTSW 6 85,318,834 (GRCm39) missense probably benign
R9294:Rab11fip5 UTSW 6 85,325,692 (GRCm39) missense probably benign 0.18
R9487:Rab11fip5 UTSW 6 85,324,913 (GRCm39) missense possibly damaging 0.88
Z1177:Rab11fip5 UTSW 6 85,317,452 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGAAGGTGTCGTCCCACTC -3'
(R):5'- CAGCATTAACCAGGAGGCTC -3'

Sequencing Primer
(F):5'- ACTCAGGCAGGGCTTTCC -3'
(R):5'- GACGTGTCTCCTCAGGTAGAATC -3'
Posted On 2018-08-29