Incidental Mutation 'R9697:Rabgef1'
ID 729360
Institutional Source Beutler Lab
Gene Symbol Rabgef1
Ensembl Gene ENSMUSG00000025340
Gene Name RAB guanine nucleotide exchange factor (GEF) 1
Synonyms Ras negative regulator Rabex-5
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.853) question?
Stock # R9697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130200644-130243178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130241781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 395 (E395G)
Ref Sequence ENSEMBL: ENSMUSP00000026390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026390] [ENSMUST00000119027] [ENSMUST00000119797] [ENSMUST00000148264] [ENSMUST00000202612]
AlphaFold Q9JM13
Predicted Effect probably benign
Transcript: ENSMUST00000026390
AA Change: E395G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026390
Gene: ENSMUSG00000025340
AA Change: E395G

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 probably benign
Transcript: ENSMUST00000119797
AA Change: E395G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114103
Gene: ENSMUSG00000025340
AA Change: E395G

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 probably benign
Transcript: ENSMUST00000143865
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 probably benign
Transcript: ENSMUST00000202612
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik C T 17: 15,163,769 (GRCm39) probably benign Het
9330182O14Rik C T 15: 40,005,500 (GRCm39) probably benign Het
Adamts19 C A 18: 59,101,834 (GRCm39) P635T probably damaging Het
Adgrf1 T C 17: 43,625,362 (GRCm39) W857R possibly damaging Het
Ak9 T G 10: 41,298,968 (GRCm39) Y1556* probably null Het
Ang2 T C 14: 51,433,326 (GRCm39) I19V probably benign Het
Ano3 T A 2: 110,496,253 (GRCm39) T834S probably damaging Het
As3mt A T 19: 46,708,420 (GRCm39) I236F probably benign Het
Asns A T 6: 7,689,268 (GRCm39) I78N probably damaging Het
Bet1 G A 6: 4,082,471 (GRCm39) T44M probably damaging Het
Cabyr T C 18: 12,884,407 (GRCm39) V298A possibly damaging Het
Cacna1c A G 6: 118,589,598 (GRCm39) V1601A Het
Ccni A T 5: 93,350,201 (GRCm39) M26K probably damaging Het
Cdhr2 T C 13: 54,867,679 (GRCm39) I503T probably damaging Het
Cfap54 T C 10: 92,792,851 (GRCm39) K1754R unknown Het
Cfap69 A G 5: 5,676,041 (GRCm39) V218A possibly damaging Het
Clcn3 A G 8: 61,372,518 (GRCm39) L741P probably damaging Het
Cntnap1 T C 11: 101,068,828 (GRCm39) F124L possibly damaging Het
Col20a1 G A 2: 180,641,577 (GRCm39) G673D probably benign Het
Col4a2 A G 8: 11,487,628 (GRCm39) I977V probably benign Het
Cyp3a59 A T 5: 146,031,190 (GRCm39) I118F probably damaging Het
Dgcr8 A T 16: 18,098,283 (GRCm39) D369E probably benign Het
Dhtkd1 T C 2: 5,919,651 (GRCm39) T577A probably benign Het
Dock2 A T 11: 34,204,417 (GRCm39) M1375K probably benign Het
Fa2h G A 8: 112,074,659 (GRCm39) H315Y probably damaging Het
Foxd2 G A 4: 114,765,684 (GRCm39) P112L unknown Het
Gin1 A G 1: 97,712,897 (GRCm39) I317V probably benign Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
H2-T3 T A 17: 36,500,744 (GRCm39) Y33F probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il12rb1 G A 8: 71,263,874 (GRCm39) W145* probably null Het
Il6ra A G 3: 89,785,219 (GRCm39) V330A probably benign Het
Impdh2 T C 9: 108,438,847 (GRCm39) S67P possibly damaging Het
Ltbp3 T A 19: 5,792,521 (GRCm39) S85T probably benign Het
Magi3 A G 3: 103,956,458 (GRCm39) probably null Het
Mettl4 T A 17: 95,034,806 (GRCm39) I430F probably damaging Het
Mmd T A 11: 90,167,579 (GRCm39) F203I probably damaging Het
Nlgn1 T C 3: 25,494,035 (GRCm39) T305A possibly damaging Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Or2w1b A T 13: 21,299,892 (GRCm39) H10L probably benign Het
Or5b107 G A 19: 13,142,888 (GRCm39) C170Y possibly damaging Het
Pcdh12 T C 18: 38,415,022 (GRCm39) H701R possibly damaging Het
Pcgf3 G A 5: 108,621,773 (GRCm39) probably null Het
Pik3c2g G A 6: 139,913,517 (GRCm39) V972M unknown Het
Pink1 A G 4: 138,041,323 (GRCm39) C563R possibly damaging Het
Prol1 A T 5: 88,466,426 (GRCm39) N3I probably benign Het
Ptpro T G 6: 137,363,288 (GRCm39) I474S probably damaging Het
Rpgrip1l G T 8: 91,987,391 (GRCm39) H889N possibly damaging Het
Sapcd2 T A 2: 25,262,925 (GRCm39) C161* probably null Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spen A G 4: 141,196,275 (GRCm39) L3625P probably damaging Het
Stil T C 4: 114,878,701 (GRCm39) I379T probably benign Het
Stim1 A G 7: 102,078,014 (GRCm39) D172G Het
Timm50 A G 7: 28,010,350 (GRCm39) L68P probably damaging Het
Tlr9 C T 9: 106,100,723 (GRCm39) R5* probably null Het
Top1mt A T 15: 75,547,874 (GRCm39) Y71N probably damaging Het
Trpv4 A G 5: 114,771,285 (GRCm39) Y415H possibly damaging Het
Try10 C T 6: 41,331,041 (GRCm39) probably benign Het
Uhrf2 A G 19: 30,063,780 (GRCm39) E581G probably damaging Het
Usp17lb G A 7: 104,490,495 (GRCm39) T144I possibly damaging Het
Vmn1r64 T C 7: 5,886,859 (GRCm39) N228S probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Other mutations in Rabgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Rabgef1 APN 5 130,237,565 (GRCm39) nonsense probably null
IGL00964:Rabgef1 APN 5 130,219,863 (GRCm39) missense probably damaging 1.00
IGL01830:Rabgef1 APN 5 130,240,907 (GRCm39) missense possibly damaging 0.88
IGL02161:Rabgef1 APN 5 130,235,940 (GRCm39) splice site probably benign
IGL02231:Rabgef1 APN 5 130,240,816 (GRCm39) missense probably damaging 1.00
IGL02429:Rabgef1 APN 5 130,239,329 (GRCm39) missense possibly damaging 0.48
IGL02620:Rabgef1 APN 5 130,219,863 (GRCm39) missense probably damaging 1.00
IGL03005:Rabgef1 APN 5 130,237,638 (GRCm39) missense probably damaging 1.00
LCD18:Rabgef1 UTSW 5 130,187,586 (GRCm38) frame shift probably null
R0227:Rabgef1 UTSW 5 130,219,831 (GRCm39) missense probably damaging 1.00
R1028:Rabgef1 UTSW 5 130,241,703 (GRCm39) nonsense probably null
R1838:Rabgef1 UTSW 5 130,241,862 (GRCm39) missense probably benign 0.01
R2027:Rabgef1 UTSW 5 130,237,620 (GRCm39) missense possibly damaging 0.69
R2074:Rabgef1 UTSW 5 130,216,402 (GRCm39) missense probably benign 0.21
R2079:Rabgef1 UTSW 5 130,219,776 (GRCm39) missense probably damaging 0.99
R2355:Rabgef1 UTSW 5 130,240,928 (GRCm39) missense probably benign 0.29
R3625:Rabgef1 UTSW 5 130,240,961 (GRCm39) critical splice donor site probably null
R3892:Rabgef1 UTSW 5 130,237,520 (GRCm39) splice site probably benign
R5060:Rabgef1 UTSW 5 130,240,844 (GRCm39) missense probably damaging 1.00
R5249:Rabgef1 UTSW 5 130,241,841 (GRCm39) missense probably benign 0.00
R6597:Rabgef1 UTSW 5 130,219,885 (GRCm39) critical splice donor site probably null
R7223:Rabgef1 UTSW 5 130,219,801 (GRCm39) missense probably benign 0.14
R7326:Rabgef1 UTSW 5 130,216,192 (GRCm39) intron probably benign
R8762:Rabgef1 UTSW 5 130,237,557 (GRCm39) missense possibly damaging 0.67
R9086:Rabgef1 UTSW 5 130,240,792 (GRCm39) missense probably benign 0.05
R9142:Rabgef1 UTSW 5 130,237,554 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- ACTCTGCCTGAATTCTTGCAG -3'
(R):5'- TCAGAGTCGATGGCTGCTAAGG -3'

Sequencing Primer
(F):5'- TGAATTCTTGCAGCCTTTCTG -3'
(R):5'- CCAGTGGGTATTTCTCAACAATGTC -3'
Posted On 2022-10-06