Incidental Mutation 'R6694:Rab11fip2'
ID 528518
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 044812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R6694 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 59891316-59932086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59925707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 170 (K170R)
Ref Sequence ENSEMBL: ENSMUSP00000133151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051996] [ENSMUST00000170819] [ENSMUST00000171986]
AlphaFold G3XA57
Predicted Effect probably damaging
Transcript: ENSMUST00000051996
AA Change: K170R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059978
Gene: ENSMUSG00000040022
AA Change: K170R

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: K170R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133151
Gene: ENSMUSG00000040022
AA Change: K170R

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: K28R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128813
Gene: ENSMUSG00000040022
AA Change: K28R

DomainStartEndE-ValueType
low complexity region 202 216 N/A INTRINSIC
Pfam:RBD-FIP 310 357 3.9e-24 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 G A 6: 48,907,480 (GRCm39) S160N probably benign Het
Arap3 A C 18: 38,124,590 (GRCm39) probably null Het
Arhgap10 A G 8: 78,137,692 (GRCm39) F300L probably benign Het
Ccdc116 T C 16: 16,960,655 (GRCm39) E54G probably benign Het
Cd53 T A 3: 106,674,702 (GRCm39) I122F probably benign Het
Ctnnd1 T C 2: 84,454,849 (GRCm39) probably benign Het
Ddx60 A G 8: 62,490,104 (GRCm39) D1691G probably damaging Het
Dnah11 T C 12: 118,150,617 (GRCm39) probably null Het
Exoc1 T A 5: 76,697,399 (GRCm39) M392K probably damaging Het
Exoc3l G C 8: 106,017,122 (GRCm39) R622G probably benign Het
Grid2 C G 6: 63,908,031 (GRCm39) R224G possibly damaging Het
Kif20a A G 18: 34,758,579 (GRCm39) E16G probably damaging Het
Kit T C 5: 75,801,417 (GRCm39) V568A possibly damaging Het
Lhx4 T C 1: 155,580,456 (GRCm39) S257G probably benign Het
Med18 C T 4: 132,187,293 (GRCm39) V114I probably benign Het
Mrps30 C T 13: 118,523,497 (GRCm39) V92M possibly damaging Het
Mtrr C T 13: 68,712,452 (GRCm39) V645I probably benign Het
Nuak2 T G 1: 132,260,048 (GRCm39) S609A probably damaging Het
Or2y1g A T 11: 49,171,379 (GRCm39) I135F probably benign Het
Plk4 T C 3: 40,756,263 (GRCm39) V58A probably damaging Het
Polq T A 16: 36,835,535 (GRCm39) F145L probably null Het
Rapgef3 A G 15: 97,657,865 (GRCm39) V246A probably benign Het
Rc3h2 A G 2: 37,290,555 (GRCm39) S316P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 GCGGCGGC GCGGCGGCGACGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Sae1 G T 7: 16,102,461 (GRCm39) A171E probably damaging Het
Semp2l2b T C 10: 21,943,620 (GRCm39) E120G probably damaging Het
Setd5 T A 6: 113,120,669 (GRCm39) N959K probably benign Het
Siae T A 9: 37,528,119 (GRCm39) Y31N probably damaging Het
Sit1 C T 4: 43,483,311 (GRCm39) G51D probably damaging Het
Slc5a11 A G 7: 122,867,012 (GRCm39) I436V possibly damaging Het
Tcfl5 A G 2: 180,264,447 (GRCm39) S470P probably damaging Het
Timd2 A T 11: 46,561,779 (GRCm39) C288* probably null Het
Timeless T G 10: 128,075,868 (GRCm39) probably null Het
Ubxn8 G T 8: 34,111,572 (GRCm39) Q274K possibly damaging Het
Usp29 A G 7: 6,965,276 (GRCm39) E373G probably benign Het
Zap70 A G 1: 36,821,598 (GRCm39) Y597C probably damaging Het
Zfp523 T G 17: 28,419,446 (GRCm39) Y195D probably damaging Het
Zfp74 G A 7: 29,634,559 (GRCm39) A383V probably damaging Het
Zfp93 A T 7: 23,975,338 (GRCm39) Q441L probably damaging Het
Zfp976 A T 7: 42,263,610 (GRCm39) Y76N 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
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
R7875:Rab11fip2 UTSW 19 59,925,655 (GRCm39) missense possibly damaging 0.91
R8252:Rab11fip2 UTSW 19 59,925,422 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATCAGACATCGAATGGGCAG -3'
(R):5'- CTGCCTGGATATAATGCTCACTG -3'

Sequencing Primer
(F):5'- GAAGAGAGCCGCTGAGGACC -3'
(R):5'- TGGATATAATGCTCACTGCCATC -3'
Posted On 2018-07-24