Incidental Mutation 'IGL00863:Tdpoz4'
ID14417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdpoz4
Ensembl Gene ENSMUSG00000060256
Gene NameTD and POZ domain containing 4
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #IGL00863
Quality Score
Status
Chromosome3
Chromosomal Location93796398-93797510 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93797073 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 226 (T226S)
Ref Sequence ENSEMBL: ENSMUSP00000075338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075953]
Predicted Effect probably benign
Transcript: ENSMUST00000075953
AA Change: T226S

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: T226S

DomainStartEndE-ValueType
MATH 24 130 4.81e-2 SMART
BTB 188 287 2.9e-26 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fam49a A T 12: 12,359,234 I72F probably benign Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Tdpoz4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Tdpoz4 APN 3 93796882 missense possibly damaging 0.62
IGL01934:Tdpoz4 APN 3 93797472 missense probably damaging 1.00
IGL03269:Tdpoz4 APN 3 93796837 missense probably damaging 1.00
FR4340:Tdpoz4 UTSW 3 93796880 frame shift probably null
FR4342:Tdpoz4 UTSW 3 93796880 frame shift probably null
R0387:Tdpoz4 UTSW 3 93796700 missense probably benign 0.26
R1134:Tdpoz4 UTSW 3 93797218 missense probably benign 0.42
R1299:Tdpoz4 UTSW 3 93796462 missense probably benign 0.26
R1574:Tdpoz4 UTSW 3 93796528 missense probably benign 0.16
R1574:Tdpoz4 UTSW 3 93796528 missense probably benign 0.16
R2113:Tdpoz4 UTSW 3 93797044 missense probably damaging 1.00
R4601:Tdpoz4 UTSW 3 93797032 missense probably damaging 1.00
R4738:Tdpoz4 UTSW 3 93797089 missense probably damaging 1.00
R4948:Tdpoz4 UTSW 3 93797011 missense probably damaging 1.00
R5495:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R5519:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R5550:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R5595:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R5596:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R5615:Tdpoz4 UTSW 3 93797499 missense probably benign 0.07
R7198:Tdpoz4 UTSW 3 93797355 missense probably benign 0.16
R7290:Tdpoz4 UTSW 3 93796848 missense not run
R7677:Tdpoz4 UTSW 3 93797508 makesense probably null
X0066:Tdpoz4 UTSW 3 93796968 missense possibly damaging 0.94
Posted On2012-12-06