Incidental Mutation 'R8008:Rab11fip3'
ID 616768
Institutional Source Beutler Lab
Gene Symbol Rab11fip3
Ensembl Gene ENSMUSG00000037098
Gene Name RAB11 family interacting protein 3 (class II)
Synonyms D030060O14Rik, Rab11-FIP3
MMRRC Submission 046048-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 26208010-26288529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26286956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 399 (L399P)
Ref Sequence ENSEMBL: ENSMUSP00000113521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120691] [ENSMUST00000122103]
AlphaFold Q8CHD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000120691
AA Change: L399P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: L399P

DomainStartEndE-ValueType
internal_repeat_1 29 130 3.12e-31 PROSPERO
internal_repeat_1 144 294 3.12e-31 PROSPERO
EFh 500 528 3.03e-1 SMART
EFh 532 560 3.86e1 SMART
low complexity region 739 751 N/A INTRINSIC
low complexity region 916 936 N/A INTRINSIC
Blast:BRLZ 938 988 2e-11 BLAST
Pfam:RBD-FIP 1007 1047 4.7e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122103
AA Change: L399P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: L399P

DomainStartEndE-ValueType
internal_repeat_1 29 130 2.03e-32 PROSPERO
internal_repeat_1 144 294 2.03e-32 PROSPERO
EFh 500 528 3.03e-1 SMART
EFh 532 560 3.86e1 SMART
low complexity region 784 796 N/A INTRINSIC
low complexity region 961 981 N/A INTRINSIC
Blast:BRLZ 983 1033 2e-11 BLAST
Pfam:RBD-FIP 1052 1092 4.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126306
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
Alpi A G 1: 87,026,384 (GRCm39) S536P unknown Het
Ankar A G 1: 72,705,643 (GRCm39) V789A possibly damaging Het
Atp5f1b C A 10: 127,919,277 (GRCm39) Q28K unknown Het
Brpf1 T C 6: 113,296,050 (GRCm39) V781A probably benign Het
Cd177 G A 7: 24,451,774 (GRCm39) S414L not run Het
Cimip3 T A 17: 47,747,661 (GRCm39) E28V probably damaging Het
Clca3b T A 3: 144,550,370 (GRCm39) T192S probably benign Het
Coro2a A T 4: 46,551,349 (GRCm39) S119T probably damaging Het
Cpped1 T C 16: 11,646,260 (GRCm39) N164S probably damaging Het
Crybg2 T A 4: 133,818,415 (GRCm39) N1390K probably damaging Het
Epn2 C T 11: 61,437,492 (GRCm39) A27T probably damaging Het
Esp34 T C 17: 38,870,490 (GRCm39) F128S possibly damaging Het
Evpl T A 11: 116,121,298 (GRCm39) N410Y probably null Het
Flnb A G 14: 7,892,155 (GRCm38) Y608C probably damaging Het
Fpr3 T C 17: 18,191,715 (GRCm39) S329P probably benign Het
Frem2 T A 3: 53,560,331 (GRCm39) N1392I probably damaging Het
Garin2 T A 12: 78,761,817 (GRCm39) D160E probably benign Het
Gpi1 G T 7: 33,917,726 (GRCm39) N249K probably damaging Het
Gpr87 T C 3: 59,087,466 (GRCm39) N13S probably benign Het
Gys2 T C 6: 142,400,243 (GRCm39) T323A probably damaging Het
Iqgap3 T C 3: 88,016,770 (GRCm39) I1084T probably damaging Het
Lrfn4 C G 19: 4,663,565 (GRCm39) G323A probably benign Het
Lrrc4c A T 2: 97,460,594 (GRCm39) S407C possibly damaging Het
Map3k20 A T 2: 72,268,613 (GRCm39) Q540L probably benign Het
Myom1 T C 17: 71,407,057 (GRCm39) V1158A probably benign Het
Ncor2 T C 5: 125,144,983 (GRCm39) D378G unknown Het
Nhsl1 T A 10: 18,284,186 (GRCm39) D42E probably damaging Het
Nr0b2 C A 4: 133,283,339 (GRCm39) A192E probably benign Het
Nt5c1b A G 12: 10,425,000 (GRCm39) D182G possibly damaging Het
Or12d14-ps1 T C 17: 37,673,265 (GRCm39) S86P probably damaging Het
Or4c115 A T 2: 88,928,059 (GRCm39) C71S probably benign Het
Or5b119 T C 19: 13,457,170 (GRCm39) T131A probably benign Het
Or5k15 T C 16: 58,710,251 (GRCm39) T111A probably benign Het
Or8b12 A T 9: 37,658,089 (GRCm39) I220F probably damaging Het
Pepd A G 7: 34,721,126 (GRCm39) N250S probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Pmp22 C T 11: 63,049,233 (GRCm39) R159C probably damaging Het
Pou3f1 C T 4: 124,552,764 (GRCm39) A422V unknown Het
Rragc A G 4: 123,829,340 (GRCm39) D352G probably damaging Het
Ryr2 A G 13: 11,671,980 (GRCm39) V3420A probably benign Het
Sez6 T A 11: 77,864,082 (GRCm39) Y521* probably null Het
Smc4 T C 3: 68,914,645 (GRCm39) V86A probably damaging Het
Stap2 T A 17: 56,304,790 (GRCm39) M331L probably benign Het
Syt8 G A 7: 141,992,259 (GRCm39) R89H probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trim21 G T 7: 102,209,183 (GRCm39) T280K probably benign Het
Trim36 C A 18: 46,305,556 (GRCm39) V476F probably benign Het
Troap G T 15: 98,973,511 (GRCm39) R56L probably benign Het
Ttn A T 2: 76,667,130 (GRCm39) I11492K unknown Het
Tuft1 T C 3: 94,521,440 (GRCm39) T390A probably damaging Het
Ucp1 T C 8: 84,020,640 (GRCm39) I150T probably benign Het
Usp17lb A T 7: 104,490,481 (GRCm39) C149S possibly damaging Het
Vmn1r159 A T 7: 22,542,665 (GRCm39) N122K possibly damaging Het
Vmn1r237 T C 17: 21,534,456 (GRCm39) C60R probably damaging Het
Wdr12 A T 1: 60,128,494 (GRCm39) Y85* probably null Het
Wdr3 T C 3: 100,062,252 (GRCm39) D221G probably benign Het
Wdr97 G A 15: 76,244,832 (GRCm39) E1125K Het
Zan T C 5: 137,403,624 (GRCm39) E3974G unknown Het
Other mutations in Rab11fip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rab11fip3 APN 17 26,210,783 (GRCm39) splice site probably benign
IGL00420:Rab11fip3 APN 17 26,286,599 (GRCm39) missense probably benign 0.20
IGL01291:Rab11fip3 APN 17 26,235,087 (GRCm39) missense probably damaging 0.99
IGL01473:Rab11fip3 APN 17 26,287,709 (GRCm39) missense possibly damaging 0.53
IGL01687:Rab11fip3 APN 17 26,286,956 (GRCm39) missense probably damaging 0.97
IGL01764:Rab11fip3 APN 17 26,287,667 (GRCm39) missense probably benign 0.02
IGL01977:Rab11fip3 APN 17 26,286,977 (GRCm39) missense possibly damaging 0.72
IGL02140:Rab11fip3 APN 17 26,286,866 (GRCm39) missense probably benign 0.33
IGL02434:Rab11fip3 APN 17 26,287,809 (GRCm39) missense possibly damaging 0.85
IGL02549:Rab11fip3 APN 17 26,213,294 (GRCm39) missense probably damaging 0.96
IGL02889:Rab11fip3 APN 17 26,286,653 (GRCm39) missense possibly damaging 0.84
IGL02953:Rab11fip3 APN 17 26,286,653 (GRCm39) missense possibly damaging 0.84
ANU05:Rab11fip3 UTSW 17 26,235,087 (GRCm39) missense probably damaging 0.99
R0193:Rab11fip3 UTSW 17 26,209,973 (GRCm39) missense probably damaging 0.99
R0388:Rab11fip3 UTSW 17 26,288,046 (GRCm39) missense probably benign 0.33
R0543:Rab11fip3 UTSW 17 26,213,199 (GRCm39) missense probably damaging 1.00
R0678:Rab11fip3 UTSW 17 26,287,821 (GRCm39) missense probably benign 0.00
R1283:Rab11fip3 UTSW 17 26,223,528 (GRCm39) missense probably damaging 1.00
R1473:Rab11fip3 UTSW 17 26,210,296 (GRCm39) missense probably damaging 1.00
R1625:Rab11fip3 UTSW 17 26,287,865 (GRCm39) missense possibly damaging 0.72
R1973:Rab11fip3 UTSW 17 26,243,365 (GRCm39) missense probably damaging 0.97
R2160:Rab11fip3 UTSW 17 26,288,028 (GRCm39) missense probably benign 0.33
R2197:Rab11fip3 UTSW 17 26,287,152 (GRCm39) missense probably benign
R2382:Rab11fip3 UTSW 17 26,209,841 (GRCm39) nonsense probably null
R3028:Rab11fip3 UTSW 17 26,234,916 (GRCm39) critical splice donor site probably null
R3797:Rab11fip3 UTSW 17 26,287,500 (GRCm39) missense possibly damaging 0.73
R4012:Rab11fip3 UTSW 17 26,287,002 (GRCm39) frame shift probably null
R4064:Rab11fip3 UTSW 17 26,243,368 (GRCm39) missense probably damaging 0.97
R4478:Rab11fip3 UTSW 17 26,235,057 (GRCm39) missense probably damaging 1.00
R4527:Rab11fip3 UTSW 17 26,255,631 (GRCm39) missense probably damaging 1.00
R4565:Rab11fip3 UTSW 17 26,287,680 (GRCm39) missense possibly damaging 0.73
R5048:Rab11fip3 UTSW 17 26,286,554 (GRCm39) critical splice donor site probably null
R5138:Rab11fip3 UTSW 17 26,210,000 (GRCm39) missense probably benign 0.32
R5317:Rab11fip3 UTSW 17 26,287,052 (GRCm39) missense possibly damaging 0.72
R5453:Rab11fip3 UTSW 17 26,211,555 (GRCm39) critical splice donor site probably null
R5495:Rab11fip3 UTSW 17 26,235,117 (GRCm39) missense probably damaging 0.99
R5525:Rab11fip3 UTSW 17 26,210,269 (GRCm39) missense probably damaging 1.00
R5654:Rab11fip3 UTSW 17 26,235,038 (GRCm39) missense probably damaging 1.00
R5716:Rab11fip3 UTSW 17 26,255,638 (GRCm39) missense probably damaging 1.00
R5818:Rab11fip3 UTSW 17 26,235,090 (GRCm39) missense probably damaging 1.00
R6044:Rab11fip3 UTSW 17 26,286,843 (GRCm39) missense possibly damaging 0.93
R6716:Rab11fip3 UTSW 17 26,210,031 (GRCm39) missense probably damaging 1.00
R6785:Rab11fip3 UTSW 17 26,210,692 (GRCm39) missense probably damaging 0.99
R7161:Rab11fip3 UTSW 17 26,288,064 (GRCm39) missense probably benign 0.09
R7390:Rab11fip3 UTSW 17 26,287,126 (GRCm39) missense possibly damaging 0.81
R7447:Rab11fip3 UTSW 17 26,287,848 (GRCm39) missense possibly damaging 0.66
R7836:Rab11fip3 UTSW 17 26,287,232 (GRCm39) missense possibly damaging 0.82
R7981:Rab11fip3 UTSW 17 26,216,963 (GRCm39) missense probably damaging 0.98
R8887:Rab11fip3 UTSW 17 26,286,927 (GRCm39) missense possibly damaging 0.83
R8962:Rab11fip3 UTSW 17 26,231,007 (GRCm39) missense probably damaging 1.00
R9250:Rab11fip3 UTSW 17 26,237,219 (GRCm39) missense unknown
R9329:Rab11fip3 UTSW 17 26,231,032 (GRCm39) missense probably benign 0.15
R9506:Rab11fip3 UTSW 17 26,213,250 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCCAGGGCGTCAAATACC -3'
(R):5'- ATGTCTCTCACCTGTGGCAG -3'

Sequencing Primer
(F):5'- GTCAAATACCGCCCTGAGG -3'
(R):5'- CACTTCACTGTTGTTGGC -3'
Posted On 2020-01-23