Incidental Mutation 'IGL01454:Arhgap25'
ID84731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap25
Ensembl Gene ENSMUSG00000030047
Gene NameRho GTPase activating protein 25
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL01454
Quality Score
Status
Chromosome6
Chromosomal Location87458545-87533259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 87496076 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 33 (A33V)
Ref Sequence ENSEMBL: ENSMUSP00000109267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071024] [ENSMUST00000101197] [ENSMUST00000113637]
Predicted Effect probably benign
Transcript: ENSMUST00000071024
SMART Domains Protein: ENSMUSP00000068964
Gene: ENSMUSG00000030047

DomainStartEndE-ValueType
PDB:1V89|A 1 63 7e-33 PDB
Blast:RhoGAP 16 66 9e-22 BLAST
RhoGAP 86 262 6.28e-64 SMART
coiled coil region 454 552 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000101197
AA Change: A7V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098758
Gene: ENSMUSG00000030047
AA Change: A7V

DomainStartEndE-ValueType
PH 21 127 2.11e-21 SMART
RhoGAP 149 325 6.28e-64 SMART
coiled coil region 517 615 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113637
AA Change: A33V

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109267
Gene: ENSMUSG00000030047
AA Change: A33V

DomainStartEndE-ValueType
PH 47 153 2.11e-21 SMART
RhoGAP 175 351 6.28e-64 SMART
coiled coil region 543 641 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145128
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered leukocyte transendothelial migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC004004 T C 17: 29,294,021 S140P possibly damaging Het
Cul3 T C 1: 80,304,183 D26G probably damaging Het
Dnah17 A T 11: 118,058,397 F2929I probably damaging Het
Gm21560 A G 14: 6,216,286 F186L probably benign Het
Krt32 C T 11: 100,084,081 E347K probably damaging Het
Marc1 A G 1: 184,807,180 L98P probably damaging Het
Myh8 T C 11: 67,283,596 I223T probably damaging Het
Nr4a3 T A 4: 48,067,803 D466E probably damaging Het
Plxnb1 A T 9: 109,113,354 D1757V probably damaging Het
Pnpt1 T C 11: 29,137,142 I167T probably benign Het
Polrmt T C 10: 79,743,683 E78G possibly damaging Het
Pparg A G 6: 115,439,939 D31G probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Trio T C 15: 27,832,985 I104V probably benign Het
Vgll4 A G 6: 114,863,996 V113A probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zscan20 T C 4: 128,589,541 E445G probably benign Het
Other mutations in Arhgap25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Arhgap25 APN 6 87467937 missense possibly damaging 0.80
IGL03051:Arhgap25 APN 6 87495914 missense probably null 1.00
R0462:Arhgap25 UTSW 6 87459960 missense possibly damaging 0.88
R1636:Arhgap25 UTSW 6 87495941 missense probably damaging 1.00
R1777:Arhgap25 UTSW 6 87463307 missense probably benign 0.41
R2077:Arhgap25 UTSW 6 87460008 missense probably damaging 1.00
R2845:Arhgap25 UTSW 6 87459967 missense possibly damaging 0.86
R4091:Arhgap25 UTSW 6 87463035 missense probably benign
R4435:Arhgap25 UTSW 6 87462938 missense possibly damaging 0.56
R4773:Arhgap25 UTSW 6 87496071 missense probably benign
R5121:Arhgap25 UTSW 6 87532864 missense probably benign 0.01
R5169:Arhgap25 UTSW 6 87463270 missense possibly damaging 0.93
R5334:Arhgap25 UTSW 6 87463261 missense possibly damaging 0.77
R5726:Arhgap25 UTSW 6 87463459 missense probably benign
R6696:Arhgap25 UTSW 6 87465651 missense probably damaging 1.00
R6696:Arhgap25 UTSW 6 87466563 missense probably damaging 0.99
Posted On2013-11-11