Incidental Mutation 'R5752:Rab11fip1'
ID 444850
Institutional Source Beutler Lab
Gene Symbol Rab11fip1
Ensembl Gene ENSMUSG00000031488
Gene Name RAB11 family interacting protein 1 (class I)
Synonyms 2010200K21Rik, 4833414G05Rik
MMRRC Submission 043357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27628801-27664674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27646614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 154 (N154S)
Ref Sequence ENSEMBL: ENSMUSP00000058042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]
AlphaFold Q9D620
Predicted Effect probably damaging
Transcript: ENSMUST00000033878
AA Change: N154S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: N154S

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 damaging
Transcript: ENSMUST00000054212
AA Change: N154S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: N154S

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 damaging
Transcript: ENSMUST00000209377
AA Change: N154S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211028
Meta Mutation Damage Score 0.3776 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
F3 T A 3: 121,526,053 (GRCm39) N205K probably damaging Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly 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
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
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'- TGCAGACTCGACTTGGAAAAC -3'
(R):5'- GCGCATTTGTGTAAGAGGTT -3'

Sequencing Primer
(F):5'- GACTCGACTTGGAAAACAAAGTCTTG -3'
(R):5'- CGCATTTGTGTAAGAGGTTAGAGTG -3'
Posted On 2016-11-21