Incidental Mutation 'IGL01679:Plekhg6'
ID103735
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: 0.089) question?
Stock #IGL01679
Quality Score
Status
Chromosome6
Chromosomal Location125362660-125380793 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125374979 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 201 (T201A)
Ref Sequence ENSEMBL: ENSMUSP00000037004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042647]
Predicted Effect probably benign
Transcript: ENSMUST00000042647
AA Change: T201A

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: T201A

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,298,071 M2606K probably benign Het
Abl2 A G 1: 156,642,465 I1100V probably benign Het
Atp2a1 T C 7: 126,456,809 N280S probably benign Het
Car8 G A 4: 8,169,674 T278I possibly damaging Het
Catsperb G A 12: 101,591,582 probably null Het
Cmya5 T C 13: 93,065,320 E3378G probably damaging Het
Ctsq C T 13: 61,038,908 G94D probably benign Het
Entpd8 A G 2: 25,084,366 K388E probably benign Het
Gab1 C T 8: 80,791,549 A145T probably benign Het
Gbp9 T C 5: 105,085,172 probably null Het
Gm6685 T C 11: 28,339,586 T77A possibly damaging Het
Gm8787 A G X: 79,332,833 Y266H probably damaging Het
Ick T C 9: 78,140,025 I69T possibly damaging Het
Miga2 A G 2: 30,378,250 K387R probably benign Het
Myo1g A G 11: 6,518,006 V143A possibly damaging Het
Pi4ka A G 16: 17,296,888 probably benign Het
Pxdn T C 12: 29,999,902 S650P probably damaging Het
Rplp2 T G 7: 141,448,766 I55S probably damaging Het
Sdk1 A G 5: 142,046,164 D998G probably benign Het
Slc13a2 C A 11: 78,404,711 A110S probably damaging Het
Slc38a2 A T 15: 96,697,954 Y94* probably null Het
Smarcc1 A G 9: 110,213,530 R889G probably damaging Het
Tie1 T C 4: 118,482,739 T364A probably benign Het
Zfp655 A G 5: 145,243,827 E165G probably damaging Het
Other mutations in Plekhg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Plekhg6 APN 6 125372551 missense probably null 0.89
IGL01466:Plekhg6 APN 6 125372624 splice site probably benign
IGL01621:Plekhg6 APN 6 125372099 missense probably damaging 1.00
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 On2014-01-21