Incidental Mutation 'IGL01363:Arhgef3'
ID75824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef3
Ensembl Gene ENSMUSG00000021895
Gene NameRho guanine nucleotide exchange factor (GEF) 3
Synonyms9830169H03Rik, 1200004I24Rik, C76747
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL01363
Quality Score
Status
Chromosome14
Chromosomal Location27114899-27403911 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 27401919 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 532 (C532*)
Ref Sequence ENSEMBL: ENSMUSP00000153396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049206] [ENSMUST00000224981] [ENSMUST00000225949]
Predicted Effect probably null
Transcript: ENSMUST00000049206
AA Change: C512*
SMART Domains Protein: ENSMUSP00000046486
Gene: ENSMUSG00000021895
AA Change: C512*

DomainStartEndE-ValueType
RhoGEF 132 309 4.11e-51 SMART
PH 318 457 3.26e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000224981
AA Change: C505*
Predicted Effect probably null
Transcript: ENSMUST00000225949
AA Change: C532*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean platelet volume and a mild delay in platelet recovery in response to thrombocytopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,610,690 F23S probably damaging Het
A730017C20Rik G A 18: 59,072,308 G98D probably damaging Het
Abcg3 A G 5: 104,948,362 V528A possibly damaging Het
Adgrv1 A G 13: 81,557,065 V1542A probably damaging Het
Alkbh3 A G 2: 94,003,051 probably null Het
Ang4 G T 14: 51,764,179 T104K probably benign Het
Bnip3 G A 7: 138,898,048 T70I probably benign Het
Cast T C 13: 74,704,192 E644G possibly damaging Het
Cenpc1 A T 5: 86,046,531 C125* probably null Het
Crb2 C A 2: 37,793,833 R1116S probably benign Het
Cyp2c67 T G 19: 39,639,967 I178L probably damaging Het
Cyp2c68 T A 19: 39,703,427 M351L probably benign Het
Dusp1 G A 17: 26,506,290 P365L probably damaging Het
Gatb T C 3: 85,652,345 L492P probably damaging Het
Gm13103 A T 4: 143,853,276 Y477F probably benign Het
Igkv8-19 T C 6: 70,341,099 S48G probably damaging Het
Isyna1 G A 8: 70,594,722 V32I probably damaging Het
Itgb6 T A 2: 60,611,382 N695Y possibly damaging Het
Klra8 T C 6: 130,115,598 T247A probably benign Het
Mak G A 13: 41,053,377 probably benign Het
Mndal T A 1: 173,857,456 T516S possibly damaging Het
Mphosph9 G T 5: 124,262,021 T939K probably damaging Het
Nfrkb A G 9: 31,414,371 T1037A possibly damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr25 A G 9: 38,329,703 T39A probably benign Het
Pard3b A G 1: 62,637,640 Y1011C probably damaging Het
Parm1 G A 5: 91,613,018 V250M probably damaging Het
Pgap2 T G 7: 102,226,282 M1R probably null Het
Phlpp2 T C 8: 109,937,097 F923L probably benign Het
Polr1a T A 6: 71,948,486 M739K probably benign Het
Pramel1 A G 4: 143,397,385 Y210C probably benign Het
Raver2 A G 4: 101,120,583 probably benign Het
Rb1cc1 C T 1: 6,250,109 L1251F probably benign Het
Ros1 T A 10: 52,166,142 Y238F probably damaging Het
Shroom3 T C 5: 92,940,993 L534P probably benign Het
Tjp1 A T 7: 65,302,965 F1540L possibly damaging Het
Tmem200b C A 4: 131,922,393 P208Q probably benign Het
Tmem236 T C 2: 14,174,630 L14P probably damaging Het
Tubgcp6 A T 15: 89,107,525 I623N probably damaging Het
Vmn1r119 C T 7: 21,012,131 V109I probably benign Het
Vmn2r98 A G 17: 19,065,758 N173D probably benign Het
Other mutations in Arhgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Arhgef3 APN 14 27265529 nonsense probably null
IGL02302:Arhgef3 APN 14 27362842 missense probably benign 0.08
IGL02505:Arhgef3 APN 14 27394000 missense possibly damaging 0.92
IGL03203:Arhgef3 APN 14 27394116 missense probably damaging 1.00
IGL03339:Arhgef3 APN 14 27401857 missense probably damaging 0.99
R0762:Arhgef3 UTSW 14 27397627 missense probably damaging 1.00
R1192:Arhgef3 UTSW 14 27379706 missense probably damaging 1.00
R1572:Arhgef3 UTSW 14 27401735 missense probably damaging 1.00
R1794:Arhgef3 UTSW 14 27397605 missense probably benign 0.44
R2426:Arhgef3 UTSW 14 27384181 nonsense probably null
R2509:Arhgef3 UTSW 14 27379676 missense probably damaging 1.00
R4932:Arhgef3 UTSW 14 27384213 missense probably damaging 0.99
R5017:Arhgef3 UTSW 14 27265530 missense possibly damaging 0.85
R5216:Arhgef3 UTSW 14 27401842 missense probably benign 0.00
R6562:Arhgef3 UTSW 14 27152996 start gained probably benign
R6951:Arhgef3 UTSW 14 27144018 start gained probably benign
R7140:Arhgef3 UTSW 14 27401707 missense probably damaging 1.00
R7361:Arhgef3 UTSW 14 27265578 missense possibly damaging 0.56
R8042:Arhgef3 UTSW 14 27362809 missense possibly damaging 0.85
R8077:Arhgef3 UTSW 14 27385924 missense probably damaging 1.00
Posted On2013-10-07