Incidental Mutation 'IGL01796:Plekho1'
ID 155346
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 # IGL01796
Quality Score
Status
Chromosome 3
Chromosomal Location 95896110-95903258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95898147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 172 (R172H)
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: R163H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: R163H

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 probably benign
Transcript: ENSMUST00000123006
SMART Domains Protein: ENSMUSP00000118665
Gene: ENSMUSG00000015745

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: R172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: R172H

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 benign
Transcript: ENSMUST00000143485
SMART Domains Protein: ENSMUSP00000114505
Gene: ENSMUSG00000015745

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,273 (GRCm39) Y511H probably damaging Het
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Plekho1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Plekho1 APN 3 95,899,496 (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 2014-02-04