Incidental Mutation 'IGL02633:Tdpoz1'
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ID301379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdpoz1
Ensembl Gene ENSMUSG00000094084
Gene NameTD and POZ domain containing 1
Synonyms2cpoz56, Spopl1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.856) question?
Stock #IGL02633
Quality Score
Status
Chromosome3
Chromosomal Location93669333-93676310 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93670749 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 243 (M243V)
Ref Sequence ENSEMBL: ENSMUSP00000138008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094413] [ENSMUST00000181541]
Predicted Effect probably benign
Transcript: ENSMUST00000094413
AA Change: M243V

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091980
Gene: ENSMUSG00000094084
AA Change: M243V

DomainStartEndE-ValueType
MATH 24 130 1.77e-5 SMART
BTB 188 287 5.55e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000181541
AA Change: M243V

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138008
Gene: ENSMUSG00000094084
AA Change: M243V

DomainStartEndE-ValueType
MATH 24 130 1.77e-5 SMART
BTB 188 287 5.55e-23 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Gzmg T C 14: 56,156,703 M245V probably damaging Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Tdpoz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Tdpoz1 APN 3 93670706 missense possibly damaging 0.48
IGL02120:Tdpoz1 APN 3 93670443 missense probably damaging 0.98
R0063:Tdpoz1 UTSW 3 93670814 missense probably benign 0.25
R0464:Tdpoz1 UTSW 3 93671475 start codon destroyed probably damaging 1.00
R1467:Tdpoz1 UTSW 3 93671330 missense probably benign 0.04
R1467:Tdpoz1 UTSW 3 93671330 missense probably benign 0.04
R2002:Tdpoz1 UTSW 3 93671403 missense possibly damaging 0.94
R2143:Tdpoz1 UTSW 3 93670836 nonsense probably null
R4792:Tdpoz1 UTSW 3 93670538 missense possibly damaging 0.61
R4974:Tdpoz1 UTSW 3 93671147 missense probably benign 0.02
R5004:Tdpoz1 UTSW 3 93671133 missense probably benign 0.08
R5488:Tdpoz1 UTSW 3 93670667 missense possibly damaging 0.63
R5489:Tdpoz1 UTSW 3 93670667 missense possibly damaging 0.63
R7113:Tdpoz1 UTSW 3 93670806 missense possibly damaging 0.76
R7261:Tdpoz1 UTSW 3 93670487 missense not run
R7476:Tdpoz1 UTSW 3 93670775 missense probably damaging 1.00
R7878:Tdpoz1 UTSW 3 93671124 nonsense probably null
R7961:Tdpoz1 UTSW 3 93671124 nonsense probably null
Z1176:Tdpoz1 UTSW 3 93670469 missense probably damaging 1.00
Posted On2015-04-16