Incidental Mutation 'IGL02883:Rab11fip2'
ID362891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab11fip2
Ensembl Gene ENSMUSG00000040022
Gene NameRAB11 family interacting protein 2 (class I)
SynonymsA830046J09Rik, 4930470G04Rik, Rab11-FIP2, nRip11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL02883
Quality Score
Status
Chromosome19
Chromosomal Location59902884-59943654 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59906998 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000128813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051996] [ENSMUST00000170819] [ENSMUST00000171986]
Predicted Effect probably damaging
Transcript: ENSMUST00000051996
AA Change: V486A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: V486A

DomainStartEndE-ValueType
C2 14 117 1.75e-11 SMART
low complexity region 344 358 N/A INTRINSIC
Pfam:RBD-FIP 452 499 3.7e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170819
AA Change: V486A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: V486A

DomainStartEndE-ValueType
C2 14 117 1.75e-11 SMART
low complexity region 344 358 N/A INTRINSIC
Pfam:RBD-FIP 452 499 3.5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171986
AA Change: V344A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: V344A

DomainStartEndE-ValueType
low complexity region 202 216 N/A INTRINSIC
Pfam:RBD-FIP 310 357 3.9e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Cep295nl A T 11: 118,333,909 S36R probably benign Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Rab11fip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0081:Rab11fip2 UTSW 19 59907135 missense possibly damaging 0.87
R0466:Rab11fip2 UTSW 19 59906243 missense possibly damaging 0.90
R1690:Rab11fip2 UTSW 19 59937300 missense probably damaging 1.00
R1718:Rab11fip2 UTSW 19 59935649 missense probably damaging 1.00
R1884:Rab11fip2 UTSW 19 59937330 missense probably damaging 1.00
R4196:Rab11fip2 UTSW 19 59935781 missense probably damaging 1.00
R4680:Rab11fip2 UTSW 19 59936020 missense probably benign 0.00
R4746:Rab11fip2 UTSW 19 59937110 missense probably damaging 1.00
R4934:Rab11fip2 UTSW 19 59935858 missense probably damaging 1.00
R5032:Rab11fip2 UTSW 19 59937367 missense probably damaging 1.00
R5721:Rab11fip2 UTSW 19 59935610 missense probably damaging 1.00
R6294:Rab11fip2 UTSW 19 59937099 missense probably damaging 1.00
R6602:Rab11fip2 UTSW 19 59942856 missense probably damaging 1.00
R6694:Rab11fip2 UTSW 19 59937275 missense probably damaging 1.00
R6752:Rab11fip2 UTSW 19 59907043 missense probably damaging 1.00
R6850:Rab11fip2 UTSW 19 59937009 missense possibly damaging 0.58
R7350:Rab11fip2 UTSW 19 59937421 missense probably benign 0.00
R7636:Rab11fip2 UTSW 19 59942885 missense possibly damaging 0.72
R7875:Rab11fip2 UTSW 19 59937223 missense possibly damaging 0.91
Posted On2015-12-18