Incidental Mutation 'R3832:Rab11fip1'
ID 274059
Institutional Source Beutler Lab
Gene Symbol Rab11fip1
Ensembl Gene ENSMUSG00000031488
Gene Name RAB11 family interacting protein 1 (class I)
Synonyms 2010200K21Rik, 4833414G05Rik
MMRRC Submission 040887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3832 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27628801-27664674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27642774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 675 (T675I)
Ref Sequence ENSEMBL: ENSMUSP00000147543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]
AlphaFold Q9D620
Predicted Effect probably benign
Transcript: ENSMUST00000033878
SMART Domains Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488

DomainStartEndE-ValueType
C2 19 125 1.57e-13 SMART
low complexity region 173 185 N/A INTRINSIC
low complexity region 201 227 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 373 396 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
Pfam:RBD-FIP 588 635 6.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054212
AA Change: T675I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: T675I

DomainStartEndE-ValueType
C2 19 125 1.57e-13 SMART
low complexity region 173 185 N/A INTRINSIC
low complexity region 201 227 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 373 396 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
low complexity region 582 600 N/A INTRINSIC
low complexity region 695 708 N/A INTRINSIC
low complexity region 745 757 N/A INTRINSIC
low complexity region 882 893 N/A INTRINSIC
low complexity region 976 983 N/A INTRINSIC
low complexity region 992 999 N/A INTRINSIC
Pfam:RBD-FIP 1109 1156 3.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209377
AA Change: T675I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210187
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout results in reduced metastatic potential of pancreatic adenocarcinoma (PDAC) tumor cells in KPC (PDAC model) mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Aldh1a7 T C 19: 20,685,602 (GRCm39) Y316C probably damaging Het
Arhgef38 T C 3: 132,912,686 (GRCm39) R118G possibly damaging Het
Bcar3 A G 3: 122,220,298 (GRCm39) D65G probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cblc T C 7: 19,526,097 (GRCm39) M238V probably damaging Het
Ccdc3 A G 2: 5,233,953 (GRCm39) N259S probably benign Het
Cep55 A G 19: 38,041,560 (GRCm39) probably benign Het
Col6a1 T C 10: 76,546,951 (GRCm39) D757G unknown Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Erich3 G A 3: 154,467,998 (GRCm39) V817M probably damaging Het
Gdf6 T C 4: 9,844,568 (GRCm39) S31P probably benign Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klhl28 C A 12: 64,998,195 (GRCm39) G433V probably damaging Het
Lipn T C 19: 34,046,933 (GRCm39) probably null Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Or14c44 A T 7: 86,062,401 (GRCm39) Y277F probably damaging Het
Or14j5 T C 17: 38,162,071 (GRCm39) V196A probably benign Het
Otud1 G C 2: 19,662,951 (GRCm39) A27P possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pdzd7 A T 19: 45,028,693 (GRCm39) V150E probably damaging Het
Peak1 T C 9: 56,165,667 (GRCm39) S754G probably benign Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Phlpp1 G A 1: 106,320,327 (GRCm39) E1441K probably damaging Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pikfyve G A 1: 65,283,579 (GRCm39) V739I probably damaging Het
Plcg1 T G 2: 160,596,357 (GRCm39) M651R possibly damaging Het
Prex2 T C 1: 11,226,588 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Slc39a8 T A 3: 135,554,894 (GRCm39) C113S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tbc1d9 A G 8: 83,960,292 (GRCm39) S182G probably damaging Het
Tecta A C 9: 42,250,329 (GRCm39) F1816C probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Trim47 T C 11: 115,998,783 (GRCm39) T279A probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Vcam1 T C 3: 115,908,140 (GRCm39) T641A possibly damaging Het
Vmn1r16 A G 6: 57,300,212 (GRCm39) F137L probably benign Het
Vmn2r17 T A 5: 109,576,262 (GRCm39) W378R probably damaging Het
Zfp777 T C 6: 48,021,149 (GRCm39) T158A probably benign Het
Zp1 T C 19: 10,893,888 (GRCm39) D439G probably damaging Het
Other mutations in Rab11fip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Rab11fip1 APN 8 27,644,804 (GRCm39) missense possibly damaging 0.71
IGL01976:Rab11fip1 APN 8 27,642,825 (GRCm39) missense possibly damaging 0.56
IGL02832:Rab11fip1 APN 8 27,642,840 (GRCm39) missense possibly damaging 0.79
IGL02799:Rab11fip1 UTSW 8 27,642,788 (GRCm39) missense probably benign 0.12
R0046:Rab11fip1 UTSW 8 27,643,149 (GRCm39) missense probably damaging 0.99
R0046:Rab11fip1 UTSW 8 27,643,149 (GRCm39) missense probably damaging 0.99
R0145:Rab11fip1 UTSW 8 27,633,352 (GRCm39) missense probably damaging 1.00
R0243:Rab11fip1 UTSW 8 27,642,253 (GRCm39) missense probably damaging 1.00
R0427:Rab11fip1 UTSW 8 27,644,520 (GRCm39) missense probably damaging 0.99
R1341:Rab11fip1 UTSW 8 27,633,388 (GRCm39) missense probably damaging 0.99
R1487:Rab11fip1 UTSW 8 27,644,240 (GRCm39) missense probably damaging 0.99
R1509:Rab11fip1 UTSW 8 27,643,051 (GRCm39) missense probably damaging 1.00
R1731:Rab11fip1 UTSW 8 27,642,438 (GRCm39) missense probably damaging 0.98
R4157:Rab11fip1 UTSW 8 27,642,175 (GRCm39) missense probably damaging 1.00
R4451:Rab11fip1 UTSW 8 27,644,505 (GRCm39) missense probably damaging 1.00
R4595:Rab11fip1 UTSW 8 27,644,603 (GRCm39) missense probably damaging 0.98
R4620:Rab11fip1 UTSW 8 27,644,243 (GRCm39) missense probably damaging 1.00
R4753:Rab11fip1 UTSW 8 27,642,769 (GRCm39) missense probably benign
R4834:Rab11fip1 UTSW 8 27,643,111 (GRCm39) missense probably damaging 1.00
R4958:Rab11fip1 UTSW 8 27,644,841 (GRCm39) missense probably damaging 0.99
R5102:Rab11fip1 UTSW 8 27,646,402 (GRCm39) missense probably damaging 0.99
R5558:Rab11fip1 UTSW 8 27,642,003 (GRCm39) missense probably damaging 1.00
R5752:Rab11fip1 UTSW 8 27,646,614 (GRCm39) missense probably damaging 0.99
R5859:Rab11fip1 UTSW 8 27,644,748 (GRCm39) missense probably damaging 1.00
R6525:Rab11fip1 UTSW 8 27,646,527 (GRCm39) missense probably benign 0.45
R6527:Rab11fip1 UTSW 8 27,664,420 (GRCm39) missense probably damaging 0.99
R6551:Rab11fip1 UTSW 8 27,646,512 (GRCm39) missense probably damaging 0.96
R6695:Rab11fip1 UTSW 8 27,633,262 (GRCm39) missense probably damaging 1.00
R6730:Rab11fip1 UTSW 8 27,633,257 (GRCm39) missense probably damaging 1.00
R6810:Rab11fip1 UTSW 8 27,642,760 (GRCm39) frame shift probably null
R6925:Rab11fip1 UTSW 8 27,643,000 (GRCm39) missense probably damaging 1.00
R6941:Rab11fip1 UTSW 8 27,646,303 (GRCm39) nonsense probably null
R7481:Rab11fip1 UTSW 8 27,646,609 (GRCm39) missense probably damaging 1.00
R7504:Rab11fip1 UTSW 8 27,642,981 (GRCm39) missense possibly damaging 0.78
R7610:Rab11fip1 UTSW 8 27,642,064 (GRCm39) missense probably benign 0.19
R8264:Rab11fip1 UTSW 8 27,642,508 (GRCm39) nonsense probably null
R8360:Rab11fip1 UTSW 8 27,642,374 (GRCm39) nonsense probably null
R8958:Rab11fip1 UTSW 8 27,644,940 (GRCm39) missense possibly damaging 0.91
R9025:Rab11fip1 UTSW 8 27,644,736 (GRCm39) missense probably benign 0.00
R9093:Rab11fip1 UTSW 8 27,633,355 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAGCCTAGTGGGTCCTTCTG -3'
(R):5'- AAACCTTCCTTGCTCCTCAGAG -3'

Sequencing Primer
(F):5'- AAGACACGCGCTTCTTGC -3'
(R):5'- GAGCAGTCCCTAGTTTAACACCGG -3'
Posted On 2015-04-02