Incidental Mutation 'R5380:Rabif'
ID 425784
Institutional Source Beutler Lab
Gene Symbol Rabif
Ensembl Gene ENSMUSG00000042229
Gene Name RAB interacting factor
Synonyms RASGFR3, E130318E12Rik, MSS4
MMRRC Submission 042955-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5380 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134422377-134435627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134433980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 98 (E98G)
Ref Sequence ENSEMBL: ENSMUSP00000038335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047978]
AlphaFold Q91X96
Predicted Effect probably damaging
Transcript: ENSMUST00000047978
AA Change: E98G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038335
Gene: ENSMUSG00000042229
AA Change: E98G

DomainStartEndE-ValueType
Pfam:Mss4 17 123 1.5e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104014
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A T 4: 40,177,848 (GRCm39) I290F probably damaging Het
Cfap107 A T 4: 144,150,372 (GRCm39) W70R probably damaging Het
Cmip T A 8: 118,149,629 (GRCm39) C155S probably damaging Het
Cyba G T 8: 123,153,718 (GRCm39) P82T possibly damaging Het
Dgkb C T 12: 38,177,299 (GRCm39) R202W possibly damaging Het
Dnah6 T C 6: 73,014,598 (GRCm39) E3611G probably damaging Het
Dnah7b A T 1: 46,256,351 (GRCm39) S1885C probably benign Het
Dop1b A G 16: 93,560,298 (GRCm39) E748G probably damaging Het
Dusp18 C A 11: 3,847,037 (GRCm39) P9Q probably damaging Het
Fat4 T A 3: 38,943,013 (GRCm39) D635E probably damaging Het
Fbxo25 T A 8: 13,971,886 (GRCm39) S79R probably benign Het
Fgfr4 T A 13: 55,315,230 (GRCm39) L675Q probably damaging Het
Foxo1 T A 3: 52,176,446 (GRCm39) L75Q probably damaging Het
Fsip2 T C 2: 82,805,742 (GRCm39) V687A possibly damaging Het
Gga3 G T 11: 115,479,257 (GRCm39) P354Q probably damaging Het
Gm11077 A T 6: 140,675,048 (GRCm39) K13N unknown Het
Haus4 T A 14: 54,787,232 (GRCm39) K75M probably damaging Het
Igfn1 G A 1: 135,893,825 (GRCm39) T2085M probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Lims1 A T 10: 58,252,492 (GRCm39) I321L probably damaging Het
Ms4a6b A T 19: 11,499,044 (GRCm39) I53F probably damaging Het
Msl3l2 A G 10: 55,991,668 (GRCm39) D131G probably damaging Het
Nrap A G 19: 56,370,035 (GRCm39) V189A probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pfkl T G 10: 77,833,423 (GRCm39) I260L possibly damaging Het
Pkd2l1 A G 19: 44,146,171 (GRCm39) Y128H probably benign Het
Prpf6 T A 2: 181,250,059 (GRCm39) L73Q probably damaging Het
R3hdm2 T C 10: 127,321,316 (GRCm39) V658A probably damaging Het
Rab27b T C 18: 70,129,226 (GRCm39) T23A probably damaging Het
Ror2 T C 13: 53,271,185 (GRCm39) D378G possibly damaging Het
Spata21 A G 4: 140,834,496 (GRCm39) T494A probably damaging Het
Ssh2 A G 11: 77,344,771 (GRCm39) K919E probably benign Het
Tnrc6b C G 15: 80,763,766 (GRCm39) P423A possibly damaging Het
Tomm40 A G 7: 19,435,675 (GRCm39) F352L probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Tspo2 A G 17: 48,755,780 (GRCm39) F93L probably benign Het
V1ra8 T A 6: 90,180,004 (GRCm39) I69K probably damaging Het
Zan T C 5: 137,456,102 (GRCm39) T1353A unknown Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp281 A G 1: 136,553,676 (GRCm39) K218R possibly damaging Het
Other mutations in Rabif
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5579:Rabif UTSW 1 134,433,943 (GRCm39) missense probably damaging 1.00
R8895:Rabif UTSW 1 134,433,935 (GRCm39) missense probably damaging 1.00
Z1176:Rabif UTSW 1 134,433,970 (GRCm39) missense possibly damaging 0.85
Z1176:Rabif UTSW 1 134,422,495 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- AGCCAGTTCAGCTTTTATACCC -3'
(R):5'- TCAAGGGCAAACACCAGTGC -3'

Sequencing Primer
(F):5'- GCCAGTTCAGCTTTTATACCCTTATG -3'
(R):5'- TATTAGTACCAACAAGTCTGCCAG -3'
Posted On 2016-08-04