Incidental Mutation 'IGL02429:Rabgef1'
ID293043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabgef1
Ensembl Gene ENSMUSG00000025340
Gene NameRAB guanine nucleotide exchange factor (GEF) 1
SynonymsRas negative regulator Rabex-5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.335) question?
Stock #IGL02429
Quality Score
Status
Chromosome5
Chromosomal Location130171798-130214342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 130210488 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 265 (S265P)
Ref Sequence ENSEMBL: ENSMUSP00000114103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026390] [ENSMUST00000119027] [ENSMUST00000119797] [ENSMUST00000148264]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026390
AA Change: S265P

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026390
Gene: ENSMUSG00000025340
AA Change: S265P

DomainStartEndE-ValueType
ZnF_A20 16 40 1.5e-12 SMART
low complexity region 56 80 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
VPS9 262 383 1.8e-29 SMART
coiled coil region 411 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119027
SMART Domains Protein: ENSMUSP00000112537
Gene: ENSMUSG00000025340

DomainStartEndE-ValueType
ZnF_A20 16 40 2.35e-10 SMART
low complexity region 56 80 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
PDB:1TXU|A 132 221 7e-51 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119542
Predicted Effect possibly damaging
Transcript: ENSMUST00000119797
AA Change: S265P

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114103
Gene: ENSMUSG00000025340
AA Change: S265P

DomainStartEndE-ValueType
ZnF_A20 16 40 1.4e-12 SMART
low complexity region 56 80 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
VPS9 262 383 1.8e-29 SMART
coiled coil region 411 445 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125937
Predicted Effect probably benign
Transcript: ENSMUST00000143865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147493
Predicted Effect probably benign
Transcript: ENSMUST00000148264
SMART Domains Protein: ENSMUSP00000119245
Gene: ENSMUSG00000025340

DomainStartEndE-ValueType
ZnF_A20 16 40 2.35e-10 SMART
low complexity region 56 80 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
PDB:1TXU|A 132 250 1e-72 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202729
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Nullizygous mutations can cause neonatal or postnatal lethality associated with severe skin inflammation, high mast cell numbers and serum levels of IgE and histamine, and enhanced mast cell degranulation and release of mediators and cytokines in response to high affinity IgE receptor aggregation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd A T 1: 127,759,716 D245V probably damaging Het
Adamts16 G A 13: 70,787,170 probably benign Het
Arhgap36 A G X: 49,494,706 D77G possibly damaging Het
Asap1 A T 15: 64,167,740 M187K probably damaging Het
Aspm T C 1: 139,479,810 V2145A probably benign Het
Casc4 A G 2: 121,911,987 T306A probably benign Het
Cd46 T C 1: 195,085,424 T110A probably benign Het
Chl1 T A 6: 103,664,809 probably benign Het
Clca3b A G 3: 144,828,135 L493S probably damaging Het
Col11a2 C T 17: 34,042,292 T72M probably damaging Het
Cyfip1 T A 7: 55,871,982 probably benign Het
Frmd4b T C 6: 97,325,429 probably benign Het
Glyr1 A G 16: 5,019,376 M397T probably benign Het
Gtf2a1l G T 17: 88,668,713 M1I probably null Het
Hdac4 A G 1: 92,012,695 L154P probably benign Het
Ints8 A T 4: 11,231,720 C422S probably damaging Het
Kng2 T A 16: 23,012,079 K160I probably damaging Het
Lrrc23 C A 6: 124,778,167 A136S probably damaging Het
Ltf T C 9: 111,026,125 I402T possibly damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mfsd4a T C 1: 132,028,499 H509R probably benign Het
Mthfd1l A G 10: 4,089,334 K782E probably damaging Het
Mvb12b G A 2: 33,827,788 R114W probably damaging Het
Myh4 A T 11: 67,258,982 K1818* probably null Het
Myo1h C T 5: 114,359,738 probably benign Het
Ncapd3 T A 9: 27,089,302 S1402T probably benign Het
Nutm2 A G 13: 50,469,480 N71S probably benign Het
Oas1c C A 5: 120,802,068 M344I probably benign Het
Olfr978 T A 9: 39,993,842 F11I probably benign Het
Phldb1 A G 9: 44,700,950 L1019P probably damaging Het
Plxnc1 T C 10: 94,882,591 E494G probably benign Het
Pole T C 5: 110,299,800 I734T probably benign Het
Ppp1r3b T C 8: 35,384,615 S203P probably benign Het
Pth2r G T 1: 65,346,839 M240I probably benign Het
Ptprr T A 10: 116,273,767 F394I probably damaging Het
Rbpjl A G 2: 164,413,895 D353G possibly damaging Het
Rfc3 A G 5: 151,651,131 Y8H probably benign Het
Rph3a A T 5: 120,980,124 probably null Het
Runx1t1 A T 4: 13,865,294 probably benign Het
Slc37a1 T A 17: 31,300,509 probably null Het
Slc38a10 T C 11: 120,134,888 probably benign Het
Slc38a6 T C 12: 73,350,568 V328A probably benign Het
Slf2 T C 19: 44,941,728 S415P probably benign Het
Spata17 C A 1: 187,140,434 R60L possibly damaging Het
Svil T A 18: 5,118,369 D2237E probably benign Het
Swap70 T A 7: 110,263,972 N169K probably benign Het
Tnfrsf11a A G 1: 105,827,718 D505G probably benign Het
Traf1 A G 2: 34,949,103 V70A probably benign Het
Traf3 T A 12: 111,243,465 V165E probably benign Het
Trpc5 T C X: 144,411,799 E570G probably damaging Het
Ubash3a A G 17: 31,241,305 N601S probably benign Het
Vmn2r30 C T 7: 7,334,244 C131Y possibly damaging Het
Vmn2r43 T C 7: 8,255,552 I221V probably benign Het
Vmn2r97 T A 17: 18,930,334 V481E possibly damaging Het
Wisp3 T C 10: 39,154,993 N178S probably benign Het
Other mutations in Rabgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Rabgef1 APN 5 130208724 nonsense probably null
IGL00964:Rabgef1 APN 5 130191022 missense probably damaging 1.00
IGL01830:Rabgef1 APN 5 130212066 missense possibly damaging 0.88
IGL02161:Rabgef1 APN 5 130207099 splice site probably benign
IGL02231:Rabgef1 APN 5 130211975 missense probably damaging 1.00
IGL02620:Rabgef1 APN 5 130191022 missense probably damaging 1.00
IGL03005:Rabgef1 APN 5 130208797 missense probably damaging 1.00
LCD18:Rabgef1 UTSW 5 130187586 frame shift probably null
R0227:Rabgef1 UTSW 5 130190990 missense probably damaging 1.00
R1028:Rabgef1 UTSW 5 130212862 nonsense probably null
R1838:Rabgef1 UTSW 5 130213021 missense probably benign 0.01
R2027:Rabgef1 UTSW 5 130208779 missense possibly damaging 0.69
R2074:Rabgef1 UTSW 5 130187561 missense probably benign 0.21
R2079:Rabgef1 UTSW 5 130190935 missense probably damaging 0.99
R2355:Rabgef1 UTSW 5 130212087 missense probably benign 0.29
R3625:Rabgef1 UTSW 5 130212120 critical splice donor site probably null
R3892:Rabgef1 UTSW 5 130208679 splice site probably benign
R5060:Rabgef1 UTSW 5 130212003 missense probably damaging 1.00
R5249:Rabgef1 UTSW 5 130213000 missense probably benign 0.00
R6597:Rabgef1 UTSW 5 130191044 critical splice donor site probably null
Posted On2015-04-16