Incidental Mutation 'IGL02970:Plekho1'
ID365768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekho1
Ensembl Gene ENSMUSG00000015745
Gene Namepleckstrin homology domain containing, family O member 1
SynonymsJZA-20, Jza2, 2810052M02Rik, CKIP-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.140) question?
Stock #IGL02970
Quality Score
Status
Chromosome3
Chromosomal Location95988429-95996001 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 95990902 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 150 (V150I)
Ref Sequence ENSEMBL: ENSMUSP00000115035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015889] [ENSMUST00000123006] [ENSMUST00000130043] [ENSMUST00000143485]
Predicted Effect probably damaging
Transcript: ENSMUST00000015889
AA Change: V141I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015889
Gene: ENSMUSG00000015745
AA Change: V141I

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: V150I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115035
Gene: ENSMUSG00000015745
AA Change: V150I

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik C T 1: 53,187,589 G5S probably damaging Het
A2ml1 A T 6: 128,569,979 F396I probably damaging Het
BC051019 T A 7: 109,716,055 N331I probably benign Het
Crocc G A 4: 141,030,246 S912L possibly damaging Het
Dcaf4 A G 12: 83,529,215 D46G probably damaging Het
Dido1 C T 2: 180,689,415 R80Q probably damaging Het
Dnase2b A G 3: 146,582,506 V278A probably damaging Het
Drosha C T 15: 12,913,956 L1106F probably damaging Het
Dsc3 C A 18: 19,968,260 W692L probably damaging Het
F2 T A 2: 91,625,551 Y579F possibly damaging Het
Fam126b T C 1: 58,539,617 E258G probably damaging Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gm9772 A G 17: 22,006,559 F120S probably damaging Het
Gsdma3 T C 11: 98,632,993 S251P probably benign Het
Itgam G A 7: 128,086,043 E443K probably benign Het
Kif18a T C 2: 109,287,888 V16A probably damaging Het
Lrrn3 T G 12: 41,452,360 S653R probably benign Het
Map1b A T 13: 99,430,734 Y1826* probably null Het
Mbnl1 T C 3: 60,613,423 F139S probably damaging Het
Micu3 T C 8: 40,382,130 Y509H possibly damaging Het
Ncmap T C 4: 135,377,018 T17A probably damaging Het
Oas1h T A 5: 120,861,635 M61K possibly damaging Het
Otog T A 7: 46,295,867 W2183R probably benign Het
Pcdh15 T C 10: 74,290,962 probably benign Het
Ppargc1b A G 18: 61,298,766 S1004P probably damaging Het
Prf1 T C 10: 61,300,178 S78P probably benign Het
Prss12 A G 3: 123,482,762 S347G probably benign Het
Rai1 T C 11: 60,185,733 S208P probably damaging Het
Sgms1 A G 19: 32,159,765 Y134H probably damaging Het
Sult2a4 A G 7: 13,909,906 probably benign Het
T C T 17: 8,435,385 A134V probably damaging Het
Thoc5 A G 11: 4,904,201 T187A probably damaging Het
Ticrr A G 7: 79,695,171 S1595G probably benign Het
Tiprl A G 1: 165,236,746 S30P probably damaging Het
Ttl T C 2: 129,076,070 S151P probably damaging Het
Ttn T A 2: 76,752,990 T22520S probably damaging Het
Usp54 G A 14: 20,577,472 S420L probably damaging Het
Vmn1r62 T A 7: 5,675,568 Y83N possibly damaging Het
Other mutations in Plekho1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Plekho1 APN 3 95990835 missense probably damaging 1.00
IGL02198:Plekho1 APN 3 95992184 missense probably damaging 1.00
IGL02395:Plekho1 APN 3 95995564 nonsense probably null
IGL02898:Plekho1 APN 3 95992181 missense probably damaging 1.00
R1474:Plekho1 UTSW 3 95989566 missense probably damaging 1.00
R2131:Plekho1 UTSW 3 95989117 missense probably damaging 1.00
R2437:Plekho1 UTSW 3 95992185 missense probably damaging 1.00
R4698:Plekho1 UTSW 3 95995652 missense possibly damaging 0.83
R4860:Plekho1 UTSW 3 95988993 missense possibly damaging 0.68
R4860:Plekho1 UTSW 3 95988993 missense possibly damaging 0.68
R5020:Plekho1 UTSW 3 95989539 missense probably damaging 0.99
R5237:Plekho1 UTSW 3 95995625 missense probably damaging 1.00
R6528:Plekho1 UTSW 3 95989321 missense probably damaging 1.00
R7571:Plekho1 UTSW 3 95989254 missense probably damaging 0.97
Z1176:Plekho1 UTSW 3 95995715 missense unknown
Posted On2015-12-18