Incidental Mutation 'R8156:Rab11fip4'
ID 633327
Institutional Source Beutler Lab
Gene Symbol Rab11fip4
Ensembl Gene ENSMUSG00000017639
Gene Name RAB11 family interacting protein 4 (class II)
Synonyms RAB11-FIP4, A730072L08Rik
MMRRC Submission 067582-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8156 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 79482038-79588849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79577415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 390 (T390A)
Ref Sequence ENSEMBL: ENSMUSP00000017783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017783] [ENSMUST00000155381]
AlphaFold Q8BQP8
Predicted Effect probably benign
Transcript: ENSMUST00000017783
AA Change: T390A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017783
Gene: ENSMUSG00000017639
AA Change: T390A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
SCOP:d1mr8a_ 17 90 2e-4 SMART
Blast:EFh 54 81 2e-10 BLAST
low complexity region 247 252 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Blast:BRLZ 507 574 7e-24 BLAST
Pfam:RBD-FIP 594 634 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155381
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.8%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alyref T C 11: 120,489,074 (GRCm39) R31G probably benign Het
Arfgef2 GTGTGCAGAAACT GT 2: 166,676,383 (GRCm39) 92 probably null Het
Arhgap31 G T 16: 38,445,991 (GRCm39) A118E probably damaging Het
Asb5 T A 8: 55,003,541 (GRCm39) I21K probably damaging Het
Asxl2 A G 12: 3,546,760 (GRCm39) I515V probably benign Het
Bend7 C T 2: 4,757,665 (GRCm39) P236S probably benign Het
C4bp T C 1: 130,566,824 (GRCm39) T351A probably benign Het
Cd1d2 T A 3: 86,894,569 (GRCm39) probably null Het
Chd1 T A 17: 15,981,666 (GRCm39) D1368E probably benign Het
Chrnb3 A G 8: 27,883,682 (GRCm39) I140V probably benign Het
Cip2a A G 16: 48,817,825 (GRCm39) D65G probably damaging Het
Col6a2 T C 10: 76,432,625 (GRCm39) T843A possibly damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Dop1a A G 9: 86,376,510 (GRCm39) D248G probably damaging Het
Dtna T A 18: 23,723,388 (GRCm39) C197* probably null Het
Flg2 T C 3: 93,127,390 (GRCm39) S2101P unknown Het
Foxg1 A G 12: 49,431,429 (GRCm39) H54R unknown Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr35 A G 1: 92,910,437 (GRCm39) T50A probably damaging Het
Gsta3 A T 1: 21,330,322 (GRCm39) Y108F probably benign Het
Hdac4 G T 1: 91,886,138 (GRCm39) A811E probably damaging Het
Hephl1 A T 9: 14,972,210 (GRCm39) V910E possibly damaging Het
Kcnb2 A T 1: 15,780,280 (GRCm39) Y384F probably damaging Het
Kmt2a T C 9: 44,733,686 (GRCm39) I2210M unknown Het
Lamb2 C T 9: 108,357,845 (GRCm39) R123W probably damaging Het
Lrriq1 A G 10: 102,992,196 (GRCm39) probably null Het
Lsm4 G A 8: 71,131,018 (GRCm39) G112S probably damaging Het
Myt1 T C 2: 181,464,554 (GRCm39) probably null Het
Ndor1 T C 2: 25,138,746 (GRCm39) R396G probably benign Het
Or10ag56 A C 2: 87,139,318 (GRCm39) I82L probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Prdm2 A G 4: 142,861,338 (GRCm39) S651P probably benign Het
Prkaa2 T C 4: 104,909,172 (GRCm39) M91V probably benign Het
Pskh1 G A 8: 106,640,226 (GRCm39) R302H probably benign Het
Snx10 T C 6: 51,538,999 (GRCm39) probably benign Het
Taar5 T C 10: 23,847,393 (GRCm39) C264R probably damaging Het
Tcf20 A G 15: 82,737,138 (GRCm39) C1438R probably benign Het
Tfap2d A G 1: 19,173,486 (GRCm39) T3A probably benign Het
Toporsl A G 4: 52,609,975 (GRCm39) probably benign Het
Trim71 A G 9: 114,342,192 (GRCm39) S697P probably benign Het
Ufl1 T C 4: 25,269,057 (GRCm39) D258G probably damaging Het
Vmn1r28 T C 6: 58,242,183 (GRCm39) Y9H probably damaging Het
Zfp995 T A 17: 22,099,115 (GRCm39) H373L probably damaging Het
Other mutations in Rab11fip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Rab11fip4 APN 11 79,582,705 (GRCm39) missense possibly damaging 0.70
IGL01867:Rab11fip4 APN 11 79,574,216 (GRCm39) missense probably benign 0.04
R0013:Rab11fip4 UTSW 11 79,580,479 (GRCm39) missense probably benign 0.27
R0277:Rab11fip4 UTSW 11 79,577,455 (GRCm39) missense possibly damaging 0.82
R0737:Rab11fip4 UTSW 11 79,574,328 (GRCm39) missense probably benign
R4975:Rab11fip4 UTSW 11 79,510,497 (GRCm39) missense probably damaging 1.00
R5382:Rab11fip4 UTSW 11 79,581,541 (GRCm39) missense possibly damaging 0.94
R5982:Rab11fip4 UTSW 11 79,581,601 (GRCm39) missense probably benign
R6086:Rab11fip4 UTSW 11 79,574,306 (GRCm39) missense probably damaging 1.00
R6267:Rab11fip4 UTSW 11 79,581,655 (GRCm39) critical splice donor site probably null
R6296:Rab11fip4 UTSW 11 79,581,655 (GRCm39) critical splice donor site probably null
R7468:Rab11fip4 UTSW 11 79,580,478 (GRCm39) missense probably benign 0.02
R8307:Rab11fip4 UTSW 11 79,581,600 (GRCm39) missense possibly damaging 0.60
R9698:Rab11fip4 UTSW 11 79,583,592 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCACAGTGTCCCTAATTCAC -3'
(R):5'- CAGCTTTACCGGAAACCCTC -3'

Sequencing Primer
(F):5'- TAATTCACCTGTCAGCTAAGCTCAG -3'
(R):5'- CTCGGGGGCAGCACTAC -3'
Posted On 2020-06-30