Incidental Mutation 'IGL00918:Plekhg6'
ID27615
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhg6
Ensembl Gene ENSMUSG00000038167
Gene Namepleckstrin homology domain containing, family G (with RhoGef domain) member 6
SynonymsLOC213522
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL00918
Quality Score
Status
Chromosome6
Chromosomal Location125362660-125380793 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125372551 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 361 (E361V)
Ref Sequence ENSEMBL: ENSMUSP00000037004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042647]
Predicted Effect probably null
Transcript: ENSMUST00000042647
AA Change: E361V

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: E361V

DomainStartEndE-ValueType
RhoGEF 165 352 1.5e-44 SMART
PH 410 511 8.99e-7 SMART
low complexity region 535 557 N/A INTRINSIC
low complexity region 627 648 N/A INTRINSIC
low complexity region 719 731 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 G A 7: 144,644,752 probably benign Het
C6 T C 15: 4,735,257 L145P possibly damaging Het
Cfap43 A T 19: 47,896,661 L505H probably damaging Het
Lrmp A G 6: 145,167,994 E296G probably damaging Het
Pnp T A 14: 50,951,002 M233K probably benign Het
Ptpre T C 7: 135,659,053 S140P probably damaging Het
Rgs3 C T 4: 62,701,067 T463I probably damaging Het
Rragc T C 4: 123,919,843 probably benign Het
Taar6 C A 10: 23,985,582 C22F probably damaging Het
Taok2 T A 7: 126,872,411 Q532L probably damaging Het
Tas2r130 T C 6: 131,630,271 N187S probably damaging Het
Other mutations in Plekhg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01466:Plekhg6 APN 6 125372624 splice site probably benign
IGL01621:Plekhg6 APN 6 125372099 missense probably damaging 1.00
IGL01679:Plekhg6 APN 6 125374979 missense probably benign 0.45
IGL01696:Plekhg6 APN 6 125378830 missense probably benign 0.00
IGL02600:Plekhg6 APN 6 125370600 nonsense probably null
IGL02604:Plekhg6 APN 6 125377379 splice site probably benign
IGL02668:Plekhg6 APN 6 125372803 splice site probably benign
R0370:Plekhg6 UTSW 6 125370660 missense probably damaging 1.00
R0426:Plekhg6 UTSW 6 125364629 unclassified probably null
R1182:Plekhg6 UTSW 6 125372492 missense probably damaging 0.99
R1401:Plekhg6 UTSW 6 125363109 missense probably damaging 1.00
R1855:Plekhg6 UTSW 6 125375839 missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125363343 missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125363343 missense probably damaging 1.00
R2264:Plekhg6 UTSW 6 125377468 missense probably benign 0.00
R2991:Plekhg6 UTSW 6 125370469 missense probably damaging 0.99
R3980:Plekhg6 UTSW 6 125373183 missense probably damaging 1.00
R4193:Plekhg6 UTSW 6 125373118 missense probably benign 0.01
R4227:Plekhg6 UTSW 6 125378805 missense probably damaging 0.99
R4689:Plekhg6 UTSW 6 125373181 missense probably benign 0.43
R5532:Plekhg6 UTSW 6 125372551 missense possibly damaging 0.80
R5573:Plekhg6 UTSW 6 125375792 missense possibly damaging 0.56
R6803:Plekhg6 UTSW 6 125363663 missense probably damaging 0.98
R6885:Plekhg6 UTSW 6 125378730 missense probably benign
R7105:Plekhg6 UTSW 6 125378805 missense probably damaging 0.99
R7599:Plekhg6 UTSW 6 125374660 missense probably damaging 0.99
R7626:Plekhg6 UTSW 6 125363668 missense probably benign 0.08
R8069:Plekhg6 UTSW 6 125363046 missense probably benign 0.04
Posted On2013-04-17