Incidental Mutation 'IGL01505:Rab11fip1'
ID 89015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip1
Ensembl Gene ENSMUSG00000031488
Gene Name RAB11 family interacting protein 1 (class I)
Synonyms 2010200K21Rik, 4833414G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01505
Quality Score
Status
Chromosome 8
Chromosomal Location 27628801-27664674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27644804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 327 (M327K)
Ref Sequence ENSEMBL: ENSMUSP00000147543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]
AlphaFold Q9D620
Predicted Effect probably benign
Transcript: ENSMUST00000033878
AA Change: M327K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: M327K

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: M327K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: M327K

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 possibly damaging
Transcript: ENSMUST00000209377
AA Change: M327K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210187
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T C 18: 69,080,418 (GRCm39) probably null Het
A2m A G 6: 121,653,906 (GRCm39) N1413S possibly damaging Het
Aadacl4fm4 C T 4: 144,401,188 (GRCm39) V99M probably damaging Het
Arhgap45 A T 10: 79,862,376 (GRCm39) N488Y probably benign Het
Arid4a G A 12: 71,083,889 (GRCm39) D94N probably damaging Het
Atp7a A G X: 105,153,436 (GRCm39) K1114E probably damaging Het
Atp8a2 C T 14: 60,265,512 (GRCm39) V275M probably benign Het
Ceacam12 T C 7: 17,801,357 (GRCm39) V112A probably damaging Het
Cep295 T A 9: 15,229,345 (GRCm39) D2256V probably benign Het
Chid1 A T 7: 141,093,807 (GRCm39) probably null Het
Clcn5 A T X: 7,036,678 (GRCm39) L268* probably null Het
Cldn17 A G 16: 88,303,591 (GRCm39) I46T possibly damaging Het
Cnot1 A T 8: 96,455,346 (GRCm39) I2025N probably damaging Het
Cntn5 C T 9: 9,706,092 (GRCm39) V574M probably damaging Het
Col14a1 T A 15: 55,318,619 (GRCm39) C1373S unknown Het
Col9a1 A G 1: 24,224,205 (GRCm39) N129S unknown Het
Cp C T 3: 20,031,356 (GRCm39) P598S possibly damaging Het
Cpb1 G A 3: 20,320,410 (GRCm39) R150C probably damaging Het
Cyp2j7 T A 4: 96,115,917 (GRCm39) probably null Het
Dnajb7 T C 15: 81,291,692 (GRCm39) E215G possibly damaging Het
Dock1 G A 7: 134,760,239 (GRCm39) R1634Q possibly damaging Het
Dop1b A G 16: 93,554,004 (GRCm39) T313A possibly damaging Het
Fgd2 T A 17: 29,585,971 (GRCm39) V185E probably damaging Het
Flnb T C 14: 7,902,003 (GRCm38) probably null Het
Fzd7 A G 1: 59,523,062 (GRCm39) E315G probably benign Het
Gjd3 T A 11: 102,691,552 (GRCm39) K150N probably benign Het
Gpihbp1 C T 15: 75,469,977 (GRCm39) probably benign Het
Gpr160 T C 3: 30,950,002 (GRCm39) S25P possibly damaging Het
Grsf1 G A 5: 88,820,608 (GRCm39) R58* probably null Het
Ifit1 T A 19: 34,625,854 (GRCm39) M330K probably benign Het
Igkv1-122 T C 6: 67,994,178 (GRCm39) V22A probably benign Het
Ikbke A T 1: 131,183,048 (GRCm39) D692E probably benign Het
Il15ra T C 2: 11,737,956 (GRCm39) probably benign Het
Il18rap A G 1: 40,576,244 (GRCm39) I252V probably damaging Het
Klra10 C T 6: 130,249,680 (GRCm39) G202R probably damaging Het
Kpna7 A G 5: 144,929,661 (GRCm39) V388A probably damaging Het
L2hgdh A G 12: 69,768,175 (GRCm39) S108P probably damaging Het
Msto1 G A 3: 88,818,050 (GRCm39) T388M probably benign Het
Naip1 T C 13: 100,562,441 (GRCm39) E908G probably damaging Het
Neto1 C A 18: 86,491,814 (GRCm39) D238E possibly damaging Het
Nlrp5 T A 7: 23,117,159 (GRCm39) D294E probably benign Het
Nr3c2 T C 8: 77,635,816 (GRCm39) S306P probably damaging Het
Or8b41 T A 9: 38,055,167 (GRCm39) C240* probably null Het
Pard3 T A 8: 128,050,544 (GRCm39) L202H probably damaging Het
Pdzd2 T C 15: 12,458,293 (GRCm39) N190S probably damaging Het
Pi4ka T C 16: 17,127,222 (GRCm39) D1077G probably benign Het
Pmfbp1 A C 8: 110,240,543 (GRCm39) L208F probably damaging Het
Pms1 C T 1: 53,246,130 (GRCm39) D470N probably benign Het
Prdm10 T C 9: 31,238,578 (GRCm39) F108L probably benign Het
Slc37a4 T A 9: 44,311,261 (GRCm39) L184Q probably damaging Het
Smdt1 T C 15: 82,232,094 (GRCm39) probably benign Het
Smg6 A G 11: 75,047,117 (GRCm39) Y1270C probably damaging Het
Speer4f2 T A 5: 17,581,565 (GRCm39) V169E possibly damaging Het
Stpg2 C T 3: 139,023,214 (GRCm39) A410V probably benign Het
Tnrc6b T A 15: 80,764,164 (GRCm39) D555E probably benign Het
Tsg101 A G 7: 46,558,808 (GRCm39) Y46H probably damaging Het
Vmn2r111 G A 17: 22,767,553 (GRCm39) S648L probably benign Het
Vmn2r73 T A 7: 85,507,267 (GRCm39) R682* probably null Het
Xkr5 A T 8: 18,983,514 (GRCm39) I676N probably damaging Het
Other mutations in Rab11fip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3832:Rab11fip1 UTSW 8 27,642,774 (GRCm39) missense probably benign
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
Posted On 2013-12-03