Incidental Mutation 'IGL01867:Rab11fip4'
ID178553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip4
Ensembl Gene ENSMUSG00000017639
Gene NameRAB11 family interacting protein 4 (class II)
SynonymsA730072L08Rik, RAB11-FIP4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01867
Quality Score
Status
Chromosome11
Chromosomal Location79591212-79698023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79683390 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000114971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017783] [ENSMUST00000155381]
Predicted Effect probably benign
Transcript: ENSMUST00000017783
AA Change: S204P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000017783
Gene: ENSMUSG00000017639
AA Change: S204P

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
SCOP:d1mr8a_ 17 90 2e-4 SMART
Blast:EFh 54 81 2e-10 BLAST
low complexity region 247 252 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
Blast:BRLZ 507 574 7e-24 BLAST
Pfam:RBD-FIP 594 634 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155381
AA Change: S102P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,324,438 E213G probably benign Het
Akap6 T C 12: 52,888,008 L761P probably damaging Het
Bbs7 A C 3: 36,573,547 L697R probably benign Het
Cd74 G A 18: 60,808,280 R99H probably benign Het
Cpne6 A G 14: 55,513,680 N182S probably benign Het
Cyp4f17 A G 17: 32,528,083 H429R probably benign Het
Dact2 A T 17: 14,195,670 M756K probably damaging Het
Ets1 A G 9: 32,734,159 D234G probably damaging Het
Fam196b A G 11: 34,403,065 E369G probably benign Het
Fat3 A C 9: 16,377,901 S109A probably benign Het
Fras1 G T 5: 96,588,131 M528I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gtf3c1 A G 7: 125,662,376 F1189L probably benign Het
Ift81 A T 5: 122,602,676 probably benign Het
Lag3 A G 6: 124,910,906 S22P probably benign Het
Mos G T 4: 3,870,845 Q324K probably benign Het
Mtx2 T A 2: 74,876,389 V236E probably damaging Het
Naip6 T C 13: 100,300,312 T568A probably benign Het
Olfr175-ps1 A G 16: 58,823,974 F245S probably damaging Het
Olfr780 T C 10: 129,321,716 I31T probably benign Het
Olfr781 T A 10: 129,333,363 L161M probably damaging Het
Olfr794 G A 10: 129,570,827 M57I possibly damaging Het
Olfr920 A C 9: 38,755,898 D70A probably damaging Het
Pcid2 A G 8: 13,078,243 V386A probably benign Het
Pde8b T C 13: 95,100,938 D116G probably damaging Het
Plxnc1 A G 10: 94,798,146 V1365A possibly damaging Het
Prex2 G T 1: 11,098,503 C241F probably benign Het
Prr23a2 A G 9: 98,857,060 E157G probably benign Het
Ptpn4 A T 1: 119,675,599 H836Q probably benign Het
Ptprd C T 4: 76,243,647 R117H probably damaging Het
Slc44a1 G T 4: 53,536,405 V194F probably damaging Het
Synm T A 7: 67,733,474 H1480L probably benign Het
Tmem63a A G 1: 180,956,005 Y175C possibly damaging Het
Trmt61a C T 12: 111,678,716 R29C probably benign Het
Ubap1 C T 4: 41,379,236 T150I probably benign Het
Uimc1 T C 13: 55,075,401 M353V probably benign Het
Usp34 T C 11: 23,384,411 M1135T possibly damaging Het
Vmn1r25 A C 6: 57,979,211 L31R probably damaging Het
Wtap T C 17: 12,969,455 E186G probably benign Het
Wwc2 T G 8: 47,883,580 N216H probably benign Het
Zhx1 A T 15: 58,054,445 M135K probably damaging Het
Other mutations in Rab11fip4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Rab11fip4 APN 11 79691879 missense possibly damaging 0.70
R0013:Rab11fip4 UTSW 11 79689653 missense probably benign 0.27
R0277:Rab11fip4 UTSW 11 79686629 missense possibly damaging 0.82
R0737:Rab11fip4 UTSW 11 79683502 missense probably benign
R4975:Rab11fip4 UTSW 11 79619671 missense probably damaging 1.00
R5382:Rab11fip4 UTSW 11 79690715 missense possibly damaging 0.94
R5982:Rab11fip4 UTSW 11 79690775 missense probably benign
R6086:Rab11fip4 UTSW 11 79683480 missense probably damaging 1.00
R6267:Rab11fip4 UTSW 11 79690829 critical splice donor site probably null
R6296:Rab11fip4 UTSW 11 79690829 critical splice donor site probably null
R7468:Rab11fip4 UTSW 11 79689652 missense probably benign 0.02
R8156:Rab11fip4 UTSW 11 79686589 missense probably benign 0.00
R8307:Rab11fip4 UTSW 11 79690774 missense possibly damaging 0.60
Posted On2014-05-07