Incidental Mutation 'PIT4812001:Rab11fip5'
ID 556908
Institutional Source Beutler Lab
Gene Symbol Rab11fip5
Ensembl Gene ENSMUSG00000051343
Gene Name RAB11 family interacting protein 5 (class I)
Synonyms D6Ertd32e, RIP11, 9130206P09Rik, GAF1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4812001 (G1)
Quality Score 87.0076
Status Not validated
Chromosome 6
Chromosomal Location 85311944-85351616 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85318540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 783 (D783G)
Ref Sequence ENSEMBL: ENSMUSP00000145402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]
AlphaFold Q8R361
Predicted Effect probably benign
Transcript: ENSMUST00000060837
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343

DomainStartEndE-ValueType
C2 20 143 8.7e-7 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
Pfam:RBD-FIP 593 640 5.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204087
AA Change: D783G

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: D783G

DomainStartEndE-ValueType
C2 20 143 5.8e-9 SMART
low complexity region 248 265 N/A INTRINSIC
low complexity region 313 322 N/A INTRINSIC
low complexity region 356 391 N/A INTRINSIC
low complexity region 529 547 N/A INTRINSIC
low complexity region 560 568 N/A INTRINSIC
low complexity region 603 627 N/A INTRINSIC
low complexity region 687 692 N/A INTRINSIC
low complexity region 713 732 N/A INTRINSIC
low complexity region 852 887 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 1037 1052 N/A INTRINSIC
low complexity region 1068 1106 N/A INTRINSIC
low complexity region 1115 1149 N/A INTRINSIC
Pfam:RBD-FIP 1266 1313 8.5e-20 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 (GRCm39) S252P possibly damaging Het
4933409G03Rik G A 2: 68,419,292 (GRCm39) V14I probably benign Het
Adgrf5 T G 17: 43,761,260 (GRCm39) V985G probably damaging Het
Ankrd44 A T 1: 54,762,197 (GRCm39) Y542* probably null Het
Atp13a3 T C 16: 30,181,396 (GRCm39) T75A probably damaging Het
Atr T C 9: 95,792,702 (GRCm39) F1675L probably benign Het
Atrnl1 A G 19: 57,720,055 (GRCm39) I1082V probably benign Het
Clip1 T A 5: 123,768,738 (GRCm39) R620S probably benign Het
Cped1 T C 6: 22,122,293 (GRCm39) F391S probably benign Het
Cracr2a T C 6: 127,602,833 (GRCm39) L230P probably damaging Het
Dctn1 T A 6: 83,176,744 (GRCm39) V1266E possibly damaging Het
Dlg1 T A 16: 31,665,703 (GRCm39) F687I probably benign Het
Dnah8 C A 17: 30,927,419 (GRCm39) D1358E probably benign Het
Dnajc11 A G 4: 152,037,346 (GRCm39) R84G probably benign Het
Dnajc14 C A 10: 128,642,552 (GRCm39) T158N probably damaging Het
Dscc1 A G 15: 54,945,657 (GRCm39) L346P probably damaging Het
Efcab3 A G 11: 104,990,805 (GRCm39) I71V probably null Het
Erbb3 T A 10: 128,410,248 (GRCm39) Q670L possibly damaging Het
Ercc4 G A 16: 12,962,311 (GRCm39) E652K probably benign Het
Ercc6l2 T A 13: 64,006,071 (GRCm39) V591D possibly damaging Het
Fam3c C T 6: 22,321,369 (GRCm39) G134E probably damaging Het
Frmd5 A G 2: 121,416,927 (GRCm39) V70A probably benign Het
Gjd3 A T 11: 102,691,807 (GRCm39) Y65* probably null Het
Gm3033 A C 14: 3,848,891 (GRCm38) L137F Het
Gria4 C A 9: 4,427,128 (GRCm39) A771S probably damaging Het
Hc A G 2: 34,919,464 (GRCm39) L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hycc2 T G 1: 58,587,862 (GRCm39) D117A possibly damaging Het
Inpp5f A T 7: 128,294,032 (GRCm39) Y696F probably benign Het
Itga11 C A 9: 62,639,475 (GRCm39) Q157K probably damaging Het
Itgb5 G T 16: 33,740,357 (GRCm39) C489F probably damaging Het
Klhl38 C T 15: 58,185,938 (GRCm39) G264S probably benign Het
Krt78 C T 15: 101,856,504 (GRCm39) V436M probably damaging Het
Mia2 A T 12: 59,148,365 (GRCm39) D75V possibly damaging Het
Mphosph6 T A 8: 118,525,888 (GRCm39) Q20L probably damaging Het
Ogfr C T 2: 180,237,304 (GRCm39) P630S possibly damaging Het
Or2c1 A T 16: 3,657,394 (GRCm39) K186* probably null Het
Or4c11 G A 2: 88,695,314 (GRCm39) V122M probably benign Het
Or5an9 T G 19: 12,187,617 (GRCm39) I229S probably damaging Het
Pbx3 T C 2: 34,114,631 (GRCm39) E101G probably damaging Het
Pcca T A 14: 123,027,794 (GRCm39) N587K probably benign Het
Pdia3 G T 2: 121,264,011 (GRCm39) A287S probably damaging Het
Pfas T A 11: 68,880,862 (GRCm39) D209V Het
Pramel29 A G 4: 143,936,086 (GRCm39) I56T probably benign Het
Pter A T 2: 12,985,179 (GRCm39) I170F probably damaging Het
Ptprq A T 10: 107,502,428 (GRCm39) V830E probably damaging Het
Rbm19 T C 5: 120,266,315 (GRCm39) V446A possibly damaging Het
Selp A G 1: 163,959,832 (GRCm39) N363D probably benign Het
Six2 C A 17: 85,992,729 (GRCm39) S258I possibly damaging Het
Smc1b A G 15: 84,953,852 (GRCm39) V1139A possibly damaging Het
Sp1 A G 15: 102,316,843 (GRCm39) T121A possibly damaging Het
Sucla2 A T 14: 73,816,889 (GRCm39) I210L possibly damaging Het
Trank1 T C 9: 111,176,980 (GRCm39) L339P probably damaging Het
Ttll5 T A 12: 85,973,635 (GRCm39) D794E probably benign Het
Usp32 C T 11: 84,900,900 (GRCm39) V1107I probably damaging Het
Vmn1r195 T C 13: 22,463,033 (GRCm39) Y168H probably benign Het
Vmn1r223 A G 13: 23,434,060 (GRCm39) N218S probably damaging Het
Vmn2r25 T A 6: 123,800,447 (GRCm39) S632C probably damaging Het
Vwa3a A T 7: 120,375,356 (GRCm39) K390I probably damaging Het
Zfp442 A T 2: 150,251,661 (GRCm39) C80* probably null Het
Zic1 A T 9: 91,246,394 (GRCm39) I226N probably damaging Het
Other mutations in Rab11fip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Rab11fip5 APN 6 85,314,534 (GRCm39) missense probably damaging 1.00
IGL02471:Rab11fip5 APN 6 85,325,207 (GRCm39) missense probably damaging 0.99
IGL02725:Rab11fip5 APN 6 85,351,471 (GRCm39) missense probably damaging 0.99
IGL02737:Rab11fip5 APN 6 85,325,540 (GRCm39) missense probably damaging 1.00
R0627:Rab11fip5 UTSW 6 85,325,033 (GRCm39) missense probably benign 0.05
R1652:Rab11fip5 UTSW 6 85,325,279 (GRCm39) missense probably damaging 0.97
R1961:Rab11fip5 UTSW 6 85,325,973 (GRCm39) missense possibly damaging 0.87
R2106:Rab11fip5 UTSW 6 85,351,369 (GRCm39) missense probably damaging 0.98
R2142:Rab11fip5 UTSW 6 85,314,210 (GRCm39) critical splice acceptor site probably null
R4729:Rab11fip5 UTSW 6 85,351,249 (GRCm39) missense probably damaging 0.99
R5001:Rab11fip5 UTSW 6 85,324,788 (GRCm39) missense probably damaging 1.00
R5116:Rab11fip5 UTSW 6 85,325,789 (GRCm39) missense probably damaging 1.00
R5506:Rab11fip5 UTSW 6 85,351,119 (GRCm39) missense probably damaging 1.00
R5801:Rab11fip5 UTSW 6 85,314,582 (GRCm39) missense probably damaging 0.99
R6338:Rab11fip5 UTSW 6 85,318,360 (GRCm39) missense possibly damaging 0.94
R6696:Rab11fip5 UTSW 6 85,318,928 (GRCm39) missense possibly damaging 0.65
R6763:Rab11fip5 UTSW 6 85,319,152 (GRCm39) missense probably benign 0.02
R6880:Rab11fip5 UTSW 6 85,325,827 (GRCm39) missense probably damaging 0.99
R6932:Rab11fip5 UTSW 6 85,318,540 (GRCm39) missense probably benign 0.38
R7042:Rab11fip5 UTSW 6 85,351,110 (GRCm39) missense possibly damaging 0.82
R7112:Rab11fip5 UTSW 6 85,325,176 (GRCm39) missense probably damaging 1.00
R7197:Rab11fip5 UTSW 6 85,319,137 (GRCm39) missense probably damaging 1.00
R7384:Rab11fip5 UTSW 6 85,325,312 (GRCm39) missense possibly damaging 0.47
R7395:Rab11fip5 UTSW 6 85,318,850 (GRCm39) missense probably benign
R7451:Rab11fip5 UTSW 6 85,318,538 (GRCm39) missense probably benign 0.06
R7482:Rab11fip5 UTSW 6 85,317,760 (GRCm39) missense probably benign 0.41
R8435:Rab11fip5 UTSW 6 85,314,522 (GRCm39) missense possibly damaging 0.86
R8674:Rab11fip5 UTSW 6 85,318,910 (GRCm39) missense probably benign 0.00
R9040:Rab11fip5 UTSW 6 85,324,915 (GRCm39) missense probably damaging 1.00
R9101:Rab11fip5 UTSW 6 85,317,675 (GRCm39) missense probably benign
R9129:Rab11fip5 UTSW 6 85,317,892 (GRCm39) missense probably benign
R9281:Rab11fip5 UTSW 6 85,318,834 (GRCm39) missense probably benign
R9294:Rab11fip5 UTSW 6 85,325,692 (GRCm39) missense probably benign 0.18
R9487:Rab11fip5 UTSW 6 85,324,913 (GRCm39) missense possibly damaging 0.88
Z1177:Rab11fip5 UTSW 6 85,317,452 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCACCTGGGAAGAAAGTAC -3'
(R):5'- GGACCAGCCAAGCACAAGTATG -3'

Sequencing Primer
(F):5'- GAAAGTACCCCGTCGGATTCTC -3'
(R):5'- GCACAAGTATGTCTGACCCAGG -3'
Posted On 2019-06-07