Incidental Mutation 'IGL01363:Arhgef3'
ID 75824
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef3
Ensembl Gene ENSMUSG00000021895
Gene Name Rho guanine nucleotide exchange factor 3
Synonyms 9830169H03Rik, C76747, 1200004I24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL01363
Quality Score
Status
Chromosome 14
Chromosomal Location 26836856-27125868 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 27123876 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91X46
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: 124,504,483 (GRCm39) F23S probably damaging Het
Abcg3 A G 5: 105,096,228 (GRCm39) V528A possibly damaging Het
Adgrv1 A G 13: 81,705,184 (GRCm39) V1542A probably damaging Het
Alkbh3 A G 2: 93,833,396 (GRCm39) probably null Het
Ang4 G T 14: 52,001,636 (GRCm39) T104K probably benign Het
Bnip3 G A 7: 138,499,777 (GRCm39) T70I probably benign Het
Cast T C 13: 74,852,311 (GRCm39) E644G possibly damaging Het
Cenpc1 A T 5: 86,194,390 (GRCm39) C125* probably null Het
Crb2 C A 2: 37,683,845 (GRCm39) R1116S probably benign Het
Cyp2c67 T G 19: 39,628,411 (GRCm39) I178L probably damaging Het
Cyp2c68 T A 19: 39,691,871 (GRCm39) M351L probably benign Het
Dusp1 G A 17: 26,725,264 (GRCm39) P365L probably damaging Het
Gatb T C 3: 85,559,652 (GRCm39) L492P probably damaging Het
Igkv8-19 T C 6: 70,318,083 (GRCm39) S48G probably damaging Het
Isyna1 G A 8: 71,047,372 (GRCm39) V32I probably damaging Het
Itgb6 T A 2: 60,441,726 (GRCm39) N695Y possibly damaging Het
Klra8 T C 6: 130,092,561 (GRCm39) T247A probably benign Het
Mak G A 13: 41,206,853 (GRCm39) probably benign Het
Minar2 G A 18: 59,205,380 (GRCm39) G98D probably damaging Het
Mndal T A 1: 173,685,022 (GRCm39) T516S possibly damaging Het
Mphosph9 G T 5: 124,400,084 (GRCm39) T939K probably damaging Het
Nfrkb A G 9: 31,325,667 (GRCm39) T1037A possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or8c9 A G 9: 38,240,999 (GRCm39) T39A probably benign Het
Pard3b A G 1: 62,676,799 (GRCm39) Y1011C probably damaging Het
Parm1 G A 5: 91,760,877 (GRCm39) V250M probably damaging Het
Pgap2 T G 7: 101,875,489 (GRCm39) M1R probably null Het
Phlpp2 T C 8: 110,663,729 (GRCm39) F923L probably benign Het
Polr1a T A 6: 71,925,470 (GRCm39) M739K probably benign Het
Pramel1 A G 4: 143,123,955 (GRCm39) Y210C probably benign Het
Pramel27 A T 4: 143,579,846 (GRCm39) Y477F probably benign Het
Raver2 A G 4: 100,977,780 (GRCm39) probably benign Het
Rb1cc1 C T 1: 6,320,333 (GRCm39) L1251F probably benign Het
Ros1 T A 10: 52,042,238 (GRCm39) Y238F probably damaging Het
Shroom3 T C 5: 93,088,852 (GRCm39) L534P probably benign Het
Tjp1 A T 7: 64,952,713 (GRCm39) F1540L possibly damaging Het
Tmem200b C A 4: 131,649,704 (GRCm39) P208Q probably benign Het
Tmem236 T C 2: 14,179,441 (GRCm39) L14P probably damaging Het
Tubgcp6 A T 15: 88,991,728 (GRCm39) I623N probably damaging Het
Vmn1r119 C T 7: 20,746,056 (GRCm39) V109I probably benign Het
Vmn2r98 A G 17: 19,286,020 (GRCm39) N173D probably benign Het
Other mutations in Arhgef3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Arhgef3 APN 14 26,987,486 (GRCm39) nonsense probably null
IGL02302:Arhgef3 APN 14 27,084,799 (GRCm39) missense probably benign 0.08
IGL02505:Arhgef3 APN 14 27,115,957 (GRCm39) missense possibly damaging 0.92
IGL03203:Arhgef3 APN 14 27,116,073 (GRCm39) missense probably damaging 1.00
IGL03339:Arhgef3 APN 14 27,123,814 (GRCm39) missense probably damaging 0.99
R0762:Arhgef3 UTSW 14 27,119,584 (GRCm39) missense probably damaging 1.00
R1192:Arhgef3 UTSW 14 27,101,663 (GRCm39) missense probably damaging 1.00
R1572:Arhgef3 UTSW 14 27,123,692 (GRCm39) missense probably damaging 1.00
R1794:Arhgef3 UTSW 14 27,119,562 (GRCm39) missense probably benign 0.44
R2426:Arhgef3 UTSW 14 27,106,138 (GRCm39) nonsense probably null
R2509:Arhgef3 UTSW 14 27,101,633 (GRCm39) missense probably damaging 1.00
R4932:Arhgef3 UTSW 14 27,106,170 (GRCm39) missense probably damaging 0.99
R5017:Arhgef3 UTSW 14 26,987,487 (GRCm39) missense possibly damaging 0.85
R5216:Arhgef3 UTSW 14 27,123,799 (GRCm39) missense probably benign 0.00
R6562:Arhgef3 UTSW 14 26,874,953 (GRCm39) start gained probably benign
R6951:Arhgef3 UTSW 14 26,865,975 (GRCm39) start gained probably benign
R7140:Arhgef3 UTSW 14 27,123,664 (GRCm39) missense probably damaging 1.00
R7361:Arhgef3 UTSW 14 26,987,535 (GRCm39) missense possibly damaging 0.56
R7968:Arhgef3 UTSW 14 27,116,062 (GRCm39) missense probably damaging 1.00
R7968:Arhgef3 UTSW 14 27,108,070 (GRCm39) missense probably damaging 0.99
R7988:Arhgef3 UTSW 14 27,123,743 (GRCm39) missense probably benign 0.22
R8042:Arhgef3 UTSW 14 27,084,766 (GRCm39) missense possibly damaging 0.85
R8077:Arhgef3 UTSW 14 27,107,881 (GRCm39) missense probably damaging 1.00
R8303:Arhgef3 UTSW 14 27,116,095 (GRCm39) missense probably damaging 0.99
R9199:Arhgef3 UTSW 14 27,122,244 (GRCm39) missense possibly damaging 0.82
R9365:Arhgef3 UTSW 14 27,101,555 (GRCm39) missense probably damaging 0.98
Posted On 2013-10-07