Incidental Mutation 'IGL02198:Plekho1'
ID 284122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekho1
Ensembl Gene ENSMUSG00000015745
Gene Name pleckstrin homology domain containing, family O member 1
Synonyms JZA-20, Jza2, CKIP-1, 2810052M02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL02198
Quality Score
Status
Chromosome 3
Chromosomal Location 95896110-95903258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95899496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 99 (N99I)
Ref Sequence ENSEMBL: ENSMUSP00000115035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
AlphaFold Q9JIY0
Predicted Effect probably damaging
Transcript: ENSMUST00000015889
AA Change: N90I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: N90I

DomainStartEndE-ValueType
PH 21 133 2.68e-14 SMART
PDB:3AA1|C 147 169 2e-8 PDB
low complexity region 337 349 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123006
AA Change: N81I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745
AA Change: N81I

DomainStartEndE-ValueType
PH 12 124 2.68e-14 SMART
low complexity region 294 306 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130043
AA Change: N99I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: N99I

DomainStartEndE-ValueType
low complexity region 7 15 N/A INTRINSIC
PH 30 142 2.68e-14 SMART
PDB:3AA1|C 156 178 2e-8 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000143485
AA Change: N82I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745
AA Change: N82I

DomainStartEndE-ValueType
PH 13 124 1.08e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157043
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit age-dependent increase in bone volume and increased osteoblast activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,388,412 (GRCm39) I381T probably damaging Het
Armt1 T A 10: 4,404,064 (GRCm39) F383Y possibly damaging Het
Cdca2 A G 14: 67,932,445 (GRCm39) V486A probably benign Het
Cep78 A G 19: 15,933,733 (GRCm39) L615S probably damaging Het
Clec2h C A 6: 128,650,979 (GRCm39) C86* probably null Het
Cntnap5a C T 1: 116,508,262 (GRCm39) T1258I probably benign Het
Dhrs7c T A 11: 67,706,628 (GRCm39) M262K possibly damaging Het
Dmpk C A 7: 18,822,117 (GRCm39) F332L probably damaging Het
Dnaaf4 G A 9: 72,876,348 (GRCm39) V308I probably benign Het
Fap A G 2: 62,385,142 (GRCm39) F73L probably benign Het
Igsf10 A T 3: 59,233,399 (GRCm39) I1778N possibly damaging Het
Il6ra T C 3: 89,797,655 (GRCm39) T71A probably benign Het
Itpr2 C A 6: 146,224,725 (GRCm39) A1389S probably damaging Het
Mob3b T C 4: 35,083,983 (GRCm39) N69D probably damaging Het
Nr1h3 A G 2: 91,023,070 (GRCm39) W21R probably damaging Het
Or4f56 A T 2: 111,703,593 (GRCm39) N202K probably damaging Het
Ovca2 A G 11: 75,069,596 (GRCm39) V9A possibly damaging Het
Ovch2 T A 7: 107,394,041 (GRCm39) K137N probably damaging Het
Pabpc1l A G 2: 163,869,536 (GRCm39) N112S probably damaging Het
Recql5 A C 11: 115,785,499 (GRCm39) S666A probably benign Het
Scn3a G T 2: 65,338,833 (GRCm39) H615Q probably benign Het
Sel1l3 A G 5: 53,297,141 (GRCm39) probably benign Het
Slc38a2 A T 15: 96,590,258 (GRCm39) S328T probably damaging Het
Taok1 T C 11: 77,466,503 (GRCm39) probably benign Het
Tsnax T A 8: 125,759,451 (GRCm39) Y237* probably null Het
Ttn T A 2: 76,544,974 (GRCm39) K24382N probably damaging Het
Ugt1a9 T A 1: 87,999,165 (GRCm39) V205E possibly damaging Het
Unc80 C A 1: 66,569,145 (GRCm39) D933E possibly damaging Het
Vnn1 A T 10: 23,779,323 (GRCm39) T411S probably benign Het
Wdr27 C A 17: 15,128,860 (GRCm39) G531V possibly damaging Het
Zfp760 G T 17: 21,941,193 (GRCm39) V123L probably benign Het
Other mutations in Plekho1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Plekho1 APN 3 95,898,147 (GRCm39) missense probably damaging 1.00
IGL02395:Plekho1 APN 3 95,902,876 (GRCm39) nonsense probably null
IGL02898:Plekho1 APN 3 95,899,493 (GRCm39) missense probably damaging 1.00
IGL02970:Plekho1 APN 3 95,898,214 (GRCm39) missense probably damaging 1.00
R1474:Plekho1 UTSW 3 95,896,878 (GRCm39) missense probably damaging 1.00
R2131:Plekho1 UTSW 3 95,896,429 (GRCm39) missense probably damaging 1.00
R2437:Plekho1 UTSW 3 95,899,497 (GRCm39) missense probably damaging 1.00
R4698:Plekho1 UTSW 3 95,902,964 (GRCm39) missense possibly damaging 0.83
R4860:Plekho1 UTSW 3 95,896,305 (GRCm39) missense possibly damaging 0.68
R4860:Plekho1 UTSW 3 95,896,305 (GRCm39) missense possibly damaging 0.68
R5020:Plekho1 UTSW 3 95,896,851 (GRCm39) missense probably damaging 0.99
R5237:Plekho1 UTSW 3 95,902,937 (GRCm39) missense probably damaging 1.00
R6528:Plekho1 UTSW 3 95,896,633 (GRCm39) missense probably damaging 1.00
R7571:Plekho1 UTSW 3 95,896,566 (GRCm39) missense probably damaging 0.97
R9069:Plekho1 UTSW 3 95,902,995 (GRCm39) missense unknown
R9733:Plekho1 UTSW 3 95,903,091 (GRCm39) missense probably benign
Z1176:Plekho1 UTSW 3 95,903,027 (GRCm39) missense unknown
Posted On 2015-04-16