Incidental Mutation 'R1896:Rab5if'
ID 211959
Institutional Source Beutler Lab
Gene Symbol Rab5if
Ensembl Gene ENSMUSG00000027637
Gene Name RAB5 interacting factor
Synonyms 1110008F13Rik
MMRRC Submission 039916-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1896 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156705048-156715483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 156707252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 64 (P64S)
Ref Sequence ENSEMBL: ENSMUSP00000029165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029165]
AlphaFold Q9CQT9
Predicted Effect probably damaging
Transcript: ENSMUST00000029165
AA Change: P64S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029165
Gene: ENSMUSG00000027637
AA Change: P64S

DomainStartEndE-ValueType
Pfam:Rab5ip 44 123 1.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185402
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo C A 2: 26,733,609 (GRCm39) D199Y probably damaging Het
Acvr1c A C 2: 58,170,306 (GRCm39) V277G probably damaging Het
Adam23 G A 1: 63,584,731 (GRCm39) A380T probably benign Het
Art2b A G 7: 101,229,236 (GRCm39) V221A probably benign Het
Bcam A G 7: 19,500,640 (GRCm39) S153P probably damaging Het
Bltp1 C T 3: 36,962,380 (GRCm39) Q494* probably null Het
C1qtnf1 G T 11: 118,334,583 (GRCm39) G21V probably damaging Het
Car13 T C 3: 14,710,235 (GRCm39) I59T probably benign Het
Cep97 T C 16: 55,748,107 (GRCm39) N108D probably damaging Het
Cog3 T A 14: 75,979,784 (GRCm39) E182D probably benign Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Endou A G 15: 97,610,873 (GRCm39) Y404H probably damaging Het
F12 T C 13: 55,568,540 (GRCm39) Y373C probably damaging Het
Fam221b T C 4: 43,660,375 (GRCm39) T405A probably damaging Het
Fetub A G 16: 22,751,045 (GRCm39) R131G probably damaging Het
Foxp2 A T 6: 15,379,767 (GRCm39) probably benign Het
Ggt5 T C 10: 75,440,560 (GRCm39) V227A probably damaging Het
Gipr A G 7: 18,897,996 (GRCm39) S79P probably benign Het
Gphn A G 12: 78,459,128 (GRCm39) D72G possibly damaging Het
Gzmk A G 13: 113,309,427 (GRCm39) S208P probably damaging Het
Itpkc T C 7: 26,907,805 (GRCm39) D633G probably damaging Het
Jarid2 T C 13: 45,038,358 (GRCm39) probably null Het
Kif21b C A 1: 136,075,583 (GRCm39) R237S possibly damaging Het
Lama1 G A 17: 68,098,218 (GRCm39) R1805H probably benign Het
Lpin3 C T 2: 160,747,218 (GRCm39) P815S probably damaging Het
Lrp1 T A 10: 127,395,867 (GRCm39) I2468F possibly damaging Het
Nav1 T C 1: 135,388,475 (GRCm39) N1118S probably benign Het
Ncoa3 T A 2: 165,890,384 (GRCm39) I90N probably benign Het
Notch3 T C 17: 32,362,402 (GRCm39) T1408A probably benign Het
Nwd2 A G 5: 63,962,753 (GRCm39) D779G probably benign Het
Obox6 A T 7: 15,568,770 (GRCm39) H35Q possibly damaging Het
Pkd1l3 C A 8: 110,350,831 (GRCm39) P559T possibly damaging Het
Pou2af2 A G 9: 51,203,098 (GRCm39) S19P probably damaging Het
Pramel23 C G 4: 143,424,714 (GRCm39) G243A probably benign Het
Prex1 T A 2: 166,428,574 (GRCm39) I716F probably benign Het
Psap C T 10: 60,130,826 (GRCm39) Q219* probably null Het
Shisa5 T A 9: 108,885,108 (GRCm39) I126N probably damaging Het
Slc11a1 T C 1: 74,414,931 (GRCm39) L21P probably benign Het
Slc4a4 A G 5: 89,194,167 (GRCm39) T172A probably damaging Het
Sned1 C T 1: 93,192,769 (GRCm39) P352L probably benign Het
Sox4 T C 13: 29,136,127 (GRCm39) Y293C probably damaging Het
Srgap3 T A 6: 112,715,958 (GRCm39) H654L probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Syna C A 5: 134,588,006 (GRCm39) M314I probably benign Het
Taf5l A G 8: 124,730,152 (GRCm39) L144P probably damaging Het
Tll2 A G 19: 41,101,498 (GRCm39) F379L probably benign Het
Traf3ip3 A G 1: 192,858,042 (GRCm39) V492A probably benign Het
Uba2 A G 7: 33,850,455 (GRCm39) F364S probably damaging Het
Unc50 T A 1: 37,476,323 (GRCm39) L161Q probably damaging Het
Ush2a T C 1: 188,282,206 (GRCm39) V1907A probably benign Het
Uso1 A T 5: 92,348,992 (GRCm39) probably null Het
Utf1 C A 7: 139,524,213 (GRCm39) L143I probably damaging Het
Vmn1r158 C T 7: 22,490,143 (GRCm39) C22Y probably damaging Het
Vmn1r36 T A 6: 66,693,756 (GRCm39) M40L probably benign Het
Vmn2r43 A G 7: 8,258,055 (GRCm39) V386A possibly damaging Het
Vps9d1 C A 8: 123,973,778 (GRCm39) R335L probably damaging Het
Zbtb26 A G 2: 37,326,347 (GRCm39) S230P possibly damaging Het
Zfp74 A T 7: 29,634,569 (GRCm39) C380S probably damaging Het
Zfyve1 A C 12: 83,602,388 (GRCm39) V469G probably damaging Het
Other mutations in Rab5if
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5690:Rab5if UTSW 2 156,707,234 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TTACATAGCAGATTCCAGGGCTAC -3'
(R):5'- ACACAGTGCCAGTCATAAAAGG -3'

Sequencing Primer
(F):5'- GCAGATTCCAGGGCTACTTAATG -3'
(R):5'- ATGTTGATGCACGCCTGTAATCAC -3'
Posted On 2014-06-30