Incidental Mutation 'ANU05:Rab11fip3'
ID 262515
Institutional Source Beutler Lab
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 # ANU05
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 26208010-26288529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26235087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 28 (T28A)
Ref Sequence ENSEMBL: ENSMUSP00000119626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118828] [ENSMUST00000120691] [ENSMUST00000122103] [ENSMUST00000148021]
AlphaFold Q8CHD8
Predicted Effect probably benign
Transcript: ENSMUST00000118828
AA Change: T6A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113048
Gene: ENSMUSG00000037098
AA Change: T6A

DomainStartEndE-ValueType
low complexity region 136 148 N/A INTRINSIC
low complexity region 313 333 N/A INTRINSIC
Blast:BRLZ 335 385 2e-11 BLAST
Pfam:RBD-FIP 404 444 2.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120691
AA Change: T609A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112875
Gene: ENSMUSG00000037098
AA Change: T609A

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 benign
Transcript: ENSMUST00000122103
AA Change: T609A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113521
Gene: ENSMUSG00000037098
AA Change: T609A

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: ENSMUST00000144587
Predicted Effect probably damaging
Transcript: ENSMUST00000148021
AA Change: T28A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGAGCAGCAGCAATGCACCA -3'
(R):5'- AGAGCCAAGTCTGATTCATAAGCCAGT -3'

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