|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)|
|Synonyms||P200, ARFGEP1, BIG1, D130059B05Rik, D730028O18Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5990 (G1)|
|Chromosomal Location||10137571-10232670 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 10172921 bp|
|Amino Acid Change||Tyrosine to Histidine at position 1065 (Y1065H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085986 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]|
|Predicted Effect||probably damaging
AA Change: Y1065H
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: Y1065H
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1555|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arfgef1||
(F):5'- CATGTTAGACAAAGGGCAATTTCTC -3'
(R):5'- AATTCGTGGCATGAGGTAGAAACAC -3'
(F):5'- CTTAAAACCTCTCACCTAGC -3'
(R):5'- GGCATGAGGTAGAAACACTTTTAAC -3'