Incidental Mutation 'IGL01687:Rab11fip3'
ID 103981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip3
Ensembl Gene ENSMUSG00000037098
Gene Name RAB11 family interacting protein 3 (class II)
Synonyms D030060O14Rik, Rab11-FIP3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01687
Quality Score
Status
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
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,306,769 (GRCm39) probably benign Het
Cep290 C T 10: 100,336,067 (GRCm39) T375M probably damaging Het
Col1a2 A T 6: 4,520,258 (GRCm39) R348* probably null Het
Dph6 A T 2: 114,475,259 (GRCm39) Y85* probably null Het
Etl4 C T 2: 20,534,898 (GRCm39) H118Y probably damaging Het
Gprc5b A G 7: 118,583,209 (GRCm39) F220S possibly damaging Het
Larp4 A G 15: 99,894,369 (GRCm39) T213A probably damaging Het
Mfn1 T C 3: 32,617,515 (GRCm39) probably benign Het
Myo5a T C 9: 75,063,531 (GRCm39) V579A probably benign Het
Nol11 T C 11: 107,077,695 (GRCm39) I65M probably damaging Het
Or2k2 A T 4: 58,785,047 (GRCm39) L225Q probably damaging Het
Pcdh18 T C 3: 49,707,982 (GRCm39) probably benign Het
Prss30 T C 17: 24,194,106 (GRCm39) T17A probably benign Het
Slc44a2 T C 9: 21,257,243 (GRCm39) V396A probably benign Het
Tns3 A G 11: 8,442,798 (GRCm39) S522P probably damaging Het
Vmn2r94 A T 17: 18,473,574 (GRCm39) V484E possibly damaging Het
Zfp871 T A 17: 32,994,618 (GRCm39) T167S probably benign Het
Zmat3 C T 3: 32,395,680 (GRCm39) E276K probably damaging 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
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
R8008:Rab11fip3 UTSW 17 26,286,956 (GRCm39) missense probably damaging 0.97
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
Posted On 2014-01-21