Incidental Mutation 'R7875:Rab11fip2'
ID 608413
Institutional Source Beutler Lab
Gene Symbol Rab11fip2
Ensembl Gene ENSMUSG00000040022
Gene Name RAB11 family interacting protein 2 (class I)
Synonyms nRip11, Rab11-FIP2, 4930470G04Rik, A830046J09Rik
MMRRC Submission 045927-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R7875 (G1)
Quality Score 118.008
Status Not validated
Chromosome 19
Chromosomal Location 59891316-59932086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 59925655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 187 (I187M)
Ref Sequence ENSEMBL: ENSMUSP00000059978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051996] [ENSMUST00000170819] [ENSMUST00000171986]
AlphaFold G3XA57
Predicted Effect possibly damaging
Transcript: ENSMUST00000051996
AA Change: I187M

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: I187M

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 possibly damaging
Transcript: ENSMUST00000170819
AA Change: I187M

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: I187M

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 possibly damaging
Transcript: ENSMUST00000171986
AA Change: I45M

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: I45M

DomainStartEndE-ValueType
low complexity region 202 216 N/A INTRINSIC
Pfam:RBD-FIP 310 357 3.9e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,459 (GRCm39) F102I probably damaging Het
Acp7 A T 7: 28,314,152 (GRCm39) Y348N probably damaging Het
Adgre4 A T 17: 56,099,016 (GRCm39) D174V probably benign Het
Ahdc1 A G 4: 132,791,161 (GRCm39) T801A possibly damaging Het
Aldh1a7 A C 19: 20,693,343 (GRCm39) V192G possibly damaging Het
Anp32b T G 4: 46,451,301 (GRCm39) D2E probably benign Het
Arhgef11 A T 3: 87,591,808 (GRCm39) D53V probably damaging Het
Arid5b T C 10: 67,964,771 (GRCm39) N300S probably benign Het
Ascc2 A G 11: 4,618,389 (GRCm39) N328S probably benign Het
Aspm A T 1: 139,382,872 (GRCm39) Q68L probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccser1 A T 6: 61,288,932 (GRCm39) H365L probably benign Het
Col1a2 T A 6: 4,518,500 (GRCm39) N213K unknown Het
Col7a1 T C 9: 108,787,763 (GRCm39) V681A unknown Het
Cplane1 A G 15: 8,239,446 (GRCm39) I1216V probably benign Het
Dock9 A T 14: 121,863,396 (GRCm39) Y792* probably null Het
Fam241b A T 10: 61,970,271 (GRCm39) S10R Het
Gab1 C T 8: 81,515,395 (GRCm39) D308N probably damaging Het
Gdf11 C T 10: 128,722,210 (GRCm39) R215H probably benign Het
Gpc1 T C 1: 92,782,970 (GRCm39) probably null Het
Hnf4a G T 2: 163,400,980 (GRCm39) E200* probably null Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Kbtbd7 A G 14: 79,664,806 (GRCm39) T213A probably benign Het
Kcnt2 A G 1: 140,501,385 (GRCm39) D917G probably damaging Het
Kdm5a C A 6: 120,375,979 (GRCm39) Y578* probably null Het
Lrrtm4 A T 6: 79,999,343 (GRCm39) T252S possibly damaging Het
Mamdc4 C T 2: 25,458,677 (GRCm39) W305* probably null Het
Mzb1 A G 18: 35,780,913 (GRCm39) I125T possibly damaging Het
Nfrkb A G 9: 31,321,450 (GRCm39) T716A possibly damaging Het
Or2ad1 T A 13: 21,327,093 (GRCm39) I45F probably damaging Het
Or4f6 A G 2: 111,839,192 (GRCm39) V113A probably benign Het
Or52r1b A G 7: 102,691,060 (GRCm39) M120V probably damaging Het
Or8k16 G A 2: 85,519,838 (GRCm39) E22K probably benign Het
Plcxd2 G A 16: 45,830,065 (GRCm39) A52V possibly damaging Het
Poteg C T 8: 27,939,942 (GRCm39) P95L probably benign Het
Prdm9 A T 17: 15,773,804 (GRCm39) Y322* probably null Het
Ranbp2 G T 10: 58,314,277 (GRCm39) E1666* probably null Het
Rin3 T C 12: 102,335,735 (GRCm39) S549P probably damaging Het
Scn10a C T 9: 119,464,508 (GRCm39) probably null Het
Scn3a A G 2: 65,327,826 (GRCm39) F888S probably damaging Het
Sik3 T A 9: 46,034,528 (GRCm39) I96N probably damaging Het
Slc12a7 T A 13: 73,936,723 (GRCm39) C128S possibly damaging Het
Spata31h1 T C 10: 82,123,456 (GRCm39) S3185G possibly damaging Het
Syde2 A G 3: 145,726,020 (GRCm39) E1304G probably damaging Het
Tagln T C 9: 45,841,680 (GRCm39) I199V probably damaging Het
Tars3 T A 7: 65,327,899 (GRCm39) V536E probably benign Het
Tas2r140 A G 6: 40,469,097 (GRCm39) K309R probably damaging Het
Thra A T 11: 98,659,257 (GRCm39) D462V probably damaging Het
Topaz1 A G 9: 122,578,652 (GRCm39) T521A possibly damaging Het
Uhrf1 A G 17: 56,619,884 (GRCm39) N265S possibly damaging Het
Upk3b A T 5: 136,069,057 (GRCm39) Y142F probably benign Het
Vmn1r219 T C 13: 23,347,363 (GRCm39) V184A possibly damaging Het
Vmn1r58 T C 7: 5,413,753 (GRCm39) D159G probably damaging Het
Vnn3 C A 10: 23,743,146 (GRCm39) A452D possibly damaging Het
Wscd1 T A 11: 71,679,560 (GRCm39) Y478N probably damaging Het
Xrcc5 C T 1: 72,369,090 (GRCm39) R315C probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Rab11fip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02883:Rab11fip2 APN 19 59,895,430 (GRCm39) missense probably damaging 1.00
R0081:Rab11fip2 UTSW 19 59,895,567 (GRCm39) missense possibly damaging 0.87
R0466:Rab11fip2 UTSW 19 59,894,675 (GRCm39) missense possibly damaging 0.90
R1690:Rab11fip2 UTSW 19 59,925,732 (GRCm39) missense probably damaging 1.00
R1718:Rab11fip2 UTSW 19 59,924,081 (GRCm39) missense probably damaging 1.00
R1884:Rab11fip2 UTSW 19 59,925,762 (GRCm39) missense probably damaging 1.00
R4196:Rab11fip2 UTSW 19 59,924,213 (GRCm39) missense probably damaging 1.00
R4680:Rab11fip2 UTSW 19 59,924,452 (GRCm39) missense probably benign 0.00
R4746:Rab11fip2 UTSW 19 59,925,542 (GRCm39) missense probably damaging 1.00
R4934:Rab11fip2 UTSW 19 59,924,290 (GRCm39) missense probably damaging 1.00
R5032:Rab11fip2 UTSW 19 59,925,799 (GRCm39) missense probably damaging 1.00
R5721:Rab11fip2 UTSW 19 59,924,042 (GRCm39) missense probably damaging 1.00
R6294:Rab11fip2 UTSW 19 59,925,531 (GRCm39) missense probably damaging 1.00
R6602:Rab11fip2 UTSW 19 59,931,288 (GRCm39) missense probably damaging 1.00
R6694:Rab11fip2 UTSW 19 59,925,707 (GRCm39) missense probably damaging 1.00
R6752:Rab11fip2 UTSW 19 59,895,475 (GRCm39) missense probably damaging 1.00
R6850:Rab11fip2 UTSW 19 59,925,441 (GRCm39) missense possibly damaging 0.58
R7350:Rab11fip2 UTSW 19 59,925,853 (GRCm39) missense probably benign 0.00
R7636:Rab11fip2 UTSW 19 59,931,317 (GRCm39) missense possibly damaging 0.72
R8252:Rab11fip2 UTSW 19 59,925,422 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGACTTCAGCTTCTCAGAAG -3'
(R):5'- CCTGGATATAATGCTCACTGCC -3'

Sequencing Primer
(F):5'- CTTCAGCTTCTCAGAAGATAAGTGGG -3'
(R):5'- ATAATGCTCACTGCCATCATTAC -3'
Posted On 2019-12-20