Incidental Mutation 'IGL01621:Plekhg6'
ID 92569
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhg6
Ensembl Gene ENSMUSG00000038167
Gene Name pleckstrin homology domain containing, family G (with RhoGef domain) member 6
Synonyms LOC213522
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01621
Quality Score
Status
Chromosome 6
Chromosomal Location 125339623-125357756 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125349062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 412 (L412M)
Ref Sequence ENSEMBL: ENSMUSP00000037004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042647]
AlphaFold Q8R0J1
Predicted Effect probably damaging
Transcript: ENSMUST00000042647
AA Change: L412M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: L412M

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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Smc1a C A X: 150,819,125 (GRCm39) Q647K probably damaging Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Plekhg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00918:Plekhg6 APN 6 125,349,514 (GRCm39) missense probably null 0.89
IGL01466:Plekhg6 APN 6 125,349,587 (GRCm39) splice site probably benign
IGL01679:Plekhg6 APN 6 125,351,942 (GRCm39) missense probably benign 0.45
IGL01696:Plekhg6 APN 6 125,355,793 (GRCm39) missense probably benign 0.00
IGL02600:Plekhg6 APN 6 125,347,563 (GRCm39) nonsense probably null
IGL02604:Plekhg6 APN 6 125,354,342 (GRCm39) splice site probably benign
IGL02668:Plekhg6 APN 6 125,349,766 (GRCm39) splice site probably benign
R0370:Plekhg6 UTSW 6 125,347,623 (GRCm39) missense probably damaging 1.00
R0426:Plekhg6 UTSW 6 125,341,592 (GRCm39) splice site probably null
R1182:Plekhg6 UTSW 6 125,349,455 (GRCm39) missense probably damaging 0.99
R1401:Plekhg6 UTSW 6 125,340,072 (GRCm39) missense probably damaging 1.00
R1855:Plekhg6 UTSW 6 125,352,802 (GRCm39) missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125,340,306 (GRCm39) missense probably damaging 1.00
R1888:Plekhg6 UTSW 6 125,340,306 (GRCm39) missense probably damaging 1.00
R2264:Plekhg6 UTSW 6 125,354,431 (GRCm39) missense probably benign 0.00
R2991:Plekhg6 UTSW 6 125,347,432 (GRCm39) missense probably damaging 0.99
R3980:Plekhg6 UTSW 6 125,350,146 (GRCm39) missense probably damaging 1.00
R4193:Plekhg6 UTSW 6 125,350,081 (GRCm39) missense probably benign 0.01
R4227:Plekhg6 UTSW 6 125,355,768 (GRCm39) missense probably damaging 0.99
R4689:Plekhg6 UTSW 6 125,350,144 (GRCm39) missense probably benign 0.43
R5532:Plekhg6 UTSW 6 125,349,514 (GRCm39) missense possibly damaging 0.80
R5573:Plekhg6 UTSW 6 125,352,755 (GRCm39) missense possibly damaging 0.56
R6803:Plekhg6 UTSW 6 125,340,626 (GRCm39) missense probably damaging 0.98
R6885:Plekhg6 UTSW 6 125,355,693 (GRCm39) missense probably benign
R7105:Plekhg6 UTSW 6 125,355,768 (GRCm39) missense probably damaging 0.99
R7599:Plekhg6 UTSW 6 125,351,623 (GRCm39) missense probably damaging 0.99
R7626:Plekhg6 UTSW 6 125,340,631 (GRCm39) missense probably benign 0.08
R8069:Plekhg6 UTSW 6 125,340,009 (GRCm39) missense probably benign 0.04
R8204:Plekhg6 UTSW 6 125,340,461 (GRCm39) missense probably damaging 1.00
R8685:Plekhg6 UTSW 6 125,352,755 (GRCm39) missense possibly damaging 0.56
R8885:Plekhg6 UTSW 6 125,351,523 (GRCm39) missense probably damaging 0.98
R9181:Plekhg6 UTSW 6 125,355,854 (GRCm39) start gained probably benign
R9342:Plekhg6 UTSW 6 125,340,023 (GRCm39) missense probably damaging 1.00
R9701:Plekhg6 UTSW 6 125,347,602 (GRCm39) missense probably benign 0.06
Posted On 2013-12-09