Incidental Mutation 'IGL02725:Rab11fip5'
ID305182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip5
Ensembl Gene ENSMUSG00000051343
Gene NameRAB11 family interacting protein 5 (class I)
SynonymsRIP11, D6Ertd32e, GAF1, 9130206P09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02725
Quality Score
Status
Chromosome6
Chromosomal Location85334962-85374634 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85374489 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 14 (S14P)
Ref Sequence ENSEMBL: ENSMUSP00000058305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]
Predicted Effect probably damaging
Transcript: ENSMUST00000060837
AA Change: S14P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: S14P

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 damaging
Transcript: ENSMUST00000204087
AA Change: S14P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: S14P

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
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,474,909 I414T possibly damaging Het
Agpat3 A C 10: 78,278,055 D266E probably benign Het
Alpk3 G T 7: 81,093,610 Q1058H possibly damaging Het
Atat1 A T 17: 35,909,489 V37E probably benign Het
Bcl6b A G 11: 70,228,518 V124A probably damaging Het
Bmt2 T C 6: 13,628,496 E396G probably damaging Het
Ccdc50 T C 16: 27,436,597 C237R probably benign Het
Chd9 A G 8: 91,051,684 I2790M possibly damaging Het
Chkb A G 15: 89,429,137 L82P probably damaging Het
Cit T C 5: 115,985,473 Y1458H probably benign Het
Clp1 T A 2: 84,723,864 K320N probably benign Het
Cry2 T C 2: 92,413,260 probably benign Het
Cyp20a1 C T 1: 60,366,706 R220W probably benign Het
Cyp27a1 C T 1: 74,735,703 P268S probably damaging Het
Cyp2e1 T G 7: 140,763,915 I22S probably null Het
Defb34 A G 8: 19,123,758 T3A unknown Het
Dpy19l3 A T 7: 35,711,918 M422K probably benign Het
Eif4g3 A T 4: 138,170,471 probably benign Het
Elmod3 A G 6: 72,594,775 S7P probably damaging Het
Fam151a T G 4: 106,748,014 S524R probably damaging Het
Gcc1 A T 6: 28,418,459 V625E probably benign Het
Glmn G A 5: 107,575,289 P112S possibly damaging Het
Grm5 A C 7: 88,074,665 D721A probably damaging Het
Hivep3 T C 4: 120,095,822 V445A possibly damaging Het
Hmcn1 T A 1: 150,604,903 E4507D possibly damaging Het
Hmcn2 A C 2: 31,405,528 E2583A probably damaging Het
Ifnb1 T A 4: 88,522,630 I49F probably benign Het
Ints8 A C 4: 11,239,406 C306W probably benign Het
Jakmip2 A G 18: 43,562,590 S540P probably damaging Het
Kctd1 A G 18: 14,969,610 V838A possibly damaging Het
Klk10 T C 7: 43,781,620 L29P probably damaging Het
Lyst T A 13: 13,760,827 I3627K probably damaging Het
Maml3 A G 3: 52,103,774 S124P probably damaging Het
Nav2 A T 7: 49,565,095 K1632I probably damaging Het
Olfr324 T C 11: 58,597,864 V156A probably benign Het
Pde2a G T 7: 101,507,218 M616I probably null Het
Pdia2 T C 17: 26,196,532 D440G probably benign Het
Rhpn2 T C 7: 35,379,606 S383P probably damaging Het
Rnf220 A G 4: 117,272,379 probably benign Het
Rnf43 A G 11: 87,731,585 D504G probably damaging Het
Setbp1 A T 18: 78,857,374 L1026* probably null Het
Slc1a4 A T 11: 20,308,408 S264T probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptan1 T C 2: 29,996,043 I739T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stat5b A T 11: 100,805,014 D47E possibly damaging Het
Taar7b A T 10: 24,000,063 Y42F probably benign Het
Tfdp2 T A 9: 96,287,695 I33K possibly damaging Het
Tm4sf5 A G 11: 70,510,622 H149R probably benign Het
Tmco6 A G 18: 36,738,707 M257V probably benign Het
Tuba8 G T 6: 121,225,957 G410* probably null Het
Ubd T A 17: 37,193,962 V4D probably benign Het
Ugt2b34 C T 5: 86,906,425 V166I probably benign Het
Vmn2r70 C T 7: 85,565,345 V200I possibly damaging Het
Wdcp A T 12: 4,851,206 N354I probably damaging Het
Wipi2 A T 5: 142,666,863 Y410F possibly damaging Het
Zc3hav1 G T 6: 38,332,192 P565Q probably damaging Het
Zfp398 T C 6: 47,865,803 V131A probably benign Het
Zkscan3 T C 13: 21,394,893 D144G possibly damaging Het
Zpbp T A 11: 11,462,358 probably benign Het
Other mutations in Rab11fip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02282:Rab11fip5 APN 6 85337552 missense probably damaging 1.00
IGL02471:Rab11fip5 APN 6 85348225 missense probably damaging 0.99
IGL02737:Rab11fip5 APN 6 85348558 missense probably damaging 1.00
PIT4812001:Rab11fip5 UTSW 6 85341558 missense probably benign 0.38
R0627:Rab11fip5 UTSW 6 85348051 missense probably benign 0.05
R1652:Rab11fip5 UTSW 6 85348297 missense probably damaging 0.97
R1961:Rab11fip5 UTSW 6 85348991 missense possibly damaging 0.87
R2106:Rab11fip5 UTSW 6 85374387 missense probably damaging 0.98
R2142:Rab11fip5 UTSW 6 85337228 critical splice acceptor site probably null
R4729:Rab11fip5 UTSW 6 85374267 missense probably damaging 0.99
R5001:Rab11fip5 UTSW 6 85347806 missense probably damaging 1.00
R5116:Rab11fip5 UTSW 6 85348807 missense probably damaging 1.00
R5506:Rab11fip5 UTSW 6 85374137 missense probably damaging 1.00
R5801:Rab11fip5 UTSW 6 85337600 missense probably damaging 0.99
R6338:Rab11fip5 UTSW 6 85341378 missense possibly damaging 0.94
R6696:Rab11fip5 UTSW 6 85341946 missense possibly damaging 0.65
R6763:Rab11fip5 UTSW 6 85342170 missense probably benign 0.02
R6880:Rab11fip5 UTSW 6 85348845 missense probably damaging 0.99
R6932:Rab11fip5 UTSW 6 85341558 missense probably benign 0.38
R7042:Rab11fip5 UTSW 6 85374128 missense possibly damaging 0.82
R7112:Rab11fip5 UTSW 6 85348194 missense probably damaging 1.00
R7197:Rab11fip5 UTSW 6 85342155 missense probably damaging 1.00
R7384:Rab11fip5 UTSW 6 85348330 missense possibly damaging 0.47
R7395:Rab11fip5 UTSW 6 85341868 missense probably benign
R7451:Rab11fip5 UTSW 6 85341556 missense probably benign 0.06
R7482:Rab11fip5 UTSW 6 85340778 missense probably benign 0.41
Posted On2015-04-16