|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 28|
|Synonyms||RhoGEF, Rgnef, Rho specific exchange factor, p190RhoGEF, 9230110L08Rik, D13Bwg1089e, RIP2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0711 (G1)|
|Chromosomal Location||97899469-98206439 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 97931254 bp|
|Amino Acid Change||Threonine to Proline at position 1388 (T1388P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105053 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109426] [ENSMUST00000225884]|
|Predicted Effect||probably damaging
AA Change: T1388P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: T1388P
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.4689|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are born at lower than expected Mendelian ratios and exhibit a reduction in overall size that becomes negligible by 8 weeks of age. Mouse embryonic fibroblasts display defects in cell migration and focal adhesion formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef28||
(F):5'- CTCCTGCTGGAACTGGTGTTGAAG -3'
(R):5'- AAGAGTCCACAAGCTGTGCTCG -3'
(F):5'- AACTGGTGTTGAAGCTTGTG -3'
(R):5'- caaaaacaggggaggggg -3'