Incidental Mutation 'IGL01803:Plekha6'
ID155578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha6
Ensembl Gene ENSMUSG00000041757
Gene Namepleckstrin homology domain containing, family A member 6
SynonymsPepp3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01803
Quality Score
Status
Chromosome1
Chromosomal Location133164210-133303435 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 133272414 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 66 (E66*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038295] [ENSMUST00000105082] [ENSMUST00000186917] [ENSMUST00000187285] [ENSMUST00000212252]
Predicted Effect probably null
Transcript: ENSMUST00000038295
AA Change: E244*
SMART Domains Protein: ENSMUSP00000048214
Gene: ENSMUSG00000041757
AA Change: E244*

DomainStartEndE-ValueType
PH 60 160 2.23e-20 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
Blast:PH 506 576 6e-31 BLAST
coiled coil region 613 686 N/A INTRINSIC
low complexity region 761 782 N/A INTRINSIC
low complexity region 789 808 N/A INTRINSIC
low complexity region 812 827 N/A INTRINSIC
low complexity region 1139 1153 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105082
AA Change: E264*
SMART Domains Protein: ENSMUSP00000100703
Gene: ENSMUSG00000041757
AA Change: E264*

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000186917
AA Change: E264*
SMART Domains Protein: ENSMUSP00000139794
Gene: ENSMUSG00000041757
AA Change: E264*

DomainStartEndE-ValueType
PH 60 180 1.24e-18 SMART
low complexity region 237 251 N/A INTRINSIC
low complexity region 373 387 N/A INTRINSIC
coiled coil region 559 632 N/A INTRINSIC
low complexity region 707 728 N/A INTRINSIC
low complexity region 1035 1049 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187285
AA Change: E244*
SMART Domains Protein: ENSMUSP00000140558
Gene: ENSMUSG00000041757
AA Change: E244*

DomainStartEndE-ValueType
PH 60 160 9.6e-23 SMART
low complexity region 217 231 N/A INTRINSIC
low complexity region 353 367 N/A INTRINSIC
coiled coil region 539 612 N/A INTRINSIC
low complexity region 687 708 N/A INTRINSIC
low complexity region 1014 1028 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000187299
Predicted Effect probably null
Transcript: ENSMUST00000189598
Predicted Effect probably null
Transcript: ENSMUST00000190186
AA Change: E66*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191207
Predicted Effect probably benign
Transcript: ENSMUST00000212252
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,952,469 L532Q probably damaging Het
Bod1l A T 5: 41,817,389 V2194D probably damaging Het
Cenpf G A 1: 189,654,771 Q1771* probably null Het
Cfap100 C A 6: 90,415,735 R131L probably benign Het
Coch A T 12: 51,603,299 Q357L probably benign Het
Col14a1 A G 15: 55,418,814 T824A unknown Het
Dnah9 T C 11: 66,118,829 Y744C probably damaging Het
Dusp13 A G 14: 21,733,839 V201A probably damaging Het
Egf T A 3: 129,736,766 H249L probably benign Het
Elmod1 G A 9: 53,931,480 P132L probably benign Het
Eps8l2 T C 7: 141,358,230 V459A probably benign Het
Fbn1 T C 2: 125,350,287 D1434G probably damaging Het
Fbn1 G A 2: 125,301,725 T2828I probably benign Het
Gbp9 C T 5: 105,094,173 D173N probably damaging Het
Gbp9 T C 5: 105,085,018 D256G probably damaging Het
Gm11492 G A 11: 87,568,249 S483N probably benign Het
Gpsm1 G A 2: 26,346,909 A580T probably damaging Het
Hnrnpf T C 6: 117,907,133 probably benign Het
Krt33a T C 11: 100,012,017 E327G probably benign Het
M1ap T A 6: 83,005,584 I283K probably benign Het
Mars2 A G 1: 55,237,996 S253G probably damaging Het
Myh6 A T 14: 54,944,543 M1767K probably damaging Het
Myo3a T A 2: 22,241,115 D16E probably damaging Het
Pitrm1 T A 13: 6,579,435 Y978N probably benign Het
Polk C T 13: 96,504,522 V176M probably damaging Het
Pom121 G T 5: 135,381,609 probably benign Het
Rnf213 T A 11: 119,441,307 D2447E probably damaging Het
Sall3 T C 18: 80,969,832 M1130V possibly damaging Het
Scn3a A G 2: 65,521,783 probably benign Het
Sel1l A T 12: 91,830,730 M241K probably benign Het
Ssh2 T G 11: 77,425,330 L259R probably damaging Het
Tnr G T 1: 159,868,243 G579W probably damaging Het
Vmn1r85 G T 7: 13,084,569 A216D probably damaging Het
Vmn2r83 C A 10: 79,469,060 H35N probably benign Het
Zar1l T A 5: 150,518,104 Y19F probably benign Het
Other mutations in Plekha6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Plekha6 APN 1 133282165 missense possibly damaging 0.92
IGL01328:Plekha6 APN 1 133272336 unclassified probably null
IGL01739:Plekha6 APN 1 133260131 missense probably benign 0.38
IGL02053:Plekha6 APN 1 133272492 missense probably damaging 1.00
IGL02269:Plekha6 APN 1 133287849 missense possibly damaging 0.82
IGL02276:Plekha6 APN 1 133293861 missense possibly damaging 0.93
IGL02478:Plekha6 APN 1 133283293 missense probably benign 0.03
IGL02754:Plekha6 APN 1 133284938 missense probably damaging 0.98
R0100:Plekha6 UTSW 1 133270177 missense probably damaging 0.99
R0334:Plekha6 UTSW 1 133282180 missense probably benign 0.24
R0470:Plekha6 UTSW 1 133272307 missense probably benign 0.07
R1016:Plekha6 UTSW 1 133260094 missense probably benign 0.00
R1254:Plekha6 UTSW 1 133272589 missense probably benign 0.10
R1728:Plekha6 UTSW 1 133287846 missense probably benign
R1729:Plekha6 UTSW 1 133287846 missense probably benign
R1730:Plekha6 UTSW 1 133287846 missense probably benign
R1739:Plekha6 UTSW 1 133287846 missense probably benign
R1762:Plekha6 UTSW 1 133287846 missense probably benign
R1771:Plekha6 UTSW 1 133273913 missense probably benign 0.00
R1783:Plekha6 UTSW 1 133287846 missense probably benign
R1784:Plekha6 UTSW 1 133287846 missense probably benign
R1785:Plekha6 UTSW 1 133287846 missense probably benign
R1786:Plekha6 UTSW 1 133279365 intron probably null
R1997:Plekha6 UTSW 1 133263818 missense probably benign 0.43
R2020:Plekha6 UTSW 1 133284970 missense possibly damaging 0.55
R2130:Plekha6 UTSW 1 133279365 intron probably null
R2131:Plekha6 UTSW 1 133279365 intron probably null
R2133:Plekha6 UTSW 1 133279365 intron probably null
R2992:Plekha6 UTSW 1 133294658 missense probably damaging 1.00
R3781:Plekha6 UTSW 1 133294655 missense probably damaging 1.00
R3810:Plekha6 UTSW 1 133273979 missense probably benign
R4067:Plekha6 UTSW 1 133294678 missense probably benign 0.40
R4725:Plekha6 UTSW 1 133283320 missense probably damaging 1.00
R5657:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5658:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5746:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5768:Plekha6 UTSW 1 133280378 missense probably benign 0.01
R5785:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5892:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5937:Plekha6 UTSW 1 133260101 missense possibly damaging 0.89
R5985:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R5986:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R6053:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R6072:Plekha6 UTSW 1 133272307 missense possibly damaging 0.94
R6167:Plekha6 UTSW 1 133279407 missense probably null 0.96
R6843:Plekha6 UTSW 1 133274878 missense probably damaging 1.00
R6879:Plekha6 UTSW 1 133260055 missense possibly damaging 0.95
R6912:Plekha6 UTSW 1 133272535 missense probably benign 0.02
R6970:Plekha6 UTSW 1 133263818 missense probably benign 0.43
R7041:Plekha6 UTSW 1 133272460 missense possibly damaging 0.93
R7248:Plekha6 UTSW 1 133275848 nonsense probably null
R7400:Plekha6 UTSW 1 133274024 nonsense probably null
R7720:Plekha6 UTSW 1 133293707 missense probably damaging 1.00
R7772:Plekha6 UTSW 1 133170022 missense possibly damaging 0.57
R8011:Plekha6 UTSW 1 133263806 missense probably benign
Z1176:Plekha6 UTSW 1 133263813 missense probably benign 0.00
Z1176:Plekha6 UTSW 1 133272471 missense probably damaging 0.98
Posted On2014-02-04