Incidental Mutation 'IGL02357:Tdpoz2'
ID290565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdpoz2
Ensembl Gene ENSMUSG00000103362
Gene NameTD and POZ domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.411) question?
Stock #IGL02357
Quality Score
Status
Chromosome3
Chromosomal Location93651542-93652686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93652428 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 79 (V79A)
Ref Sequence ENSEMBL: ENSMUSP00000141299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191960]
Predicted Effect possibly damaging
Transcript: ENSMUST00000178358
AA Change: V79A

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136371
Gene: ENSMUSG00000096860
AA Change: V79A

DomainStartEndE-ValueType
MATH 24 130 1.27e-6 SMART
BTB 188 287 7.44e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000191960
AA Change: V79A

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: V79A

DomainStartEndE-ValueType
MATH 24 130 1.27e-6 SMART
BTB 188 287 7.44e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
Adamts16 T A 13: 70,738,585 T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 C6007F probably benign Het
Ak8 A T 2: 28,700,213 H8L probably benign Het
Apol7b A G 15: 77,423,632 V221A probably benign Het
BC005624 G A 2: 30,973,767 P235S probably benign Het
Casp9 C A 4: 141,805,472 D226E probably benign Het
Cd96 A G 16: 46,069,776 probably benign Het
Celf1 A T 2: 90,998,588 K27I probably damaging Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 M2104V possibly damaging Het
Emb A G 13: 117,249,471 probably benign Het
Fbn2 G T 18: 58,103,995 N645K possibly damaging Het
Fes T C 7: 80,383,830 probably null Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 I27F probably damaging Het
Hecw1 A G 13: 14,248,338 probably null Het
Hook2 C T 8: 84,994,985 Q291* probably null Het
Jakmip2 T C 18: 43,547,127 T722A possibly damaging Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Ngdn T A 14: 55,021,936 V179E probably damaging Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1349 T A 7: 6,515,226 M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 L140P probably damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Plcb3 A C 19: 6,958,178 L789R probably damaging Het
Plek C T 11: 16,981,846 R335H probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rusc2 T G 4: 43,425,351 V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Slc22a22 A G 15: 57,247,448 V461A probably benign Het
Slc35e4 C T 11: 3,912,640 R183Q probably benign Het
Spen T C 4: 141,477,579 T1246A unknown Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tpgs1 A G 10: 79,675,759 D245G probably benign Het
Ttn A G 2: 76,709,619 V34341A probably benign Het
Wwox T C 8: 114,712,142 V316A possibly damaging Het
Other mutations in Tdpoz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01780:Tdpoz2 APN 3 93652428 missense possibly damaging 0.48
IGL02285:Tdpoz2 APN 3 93652291 missense probably damaging 1.00
IGL02350:Tdpoz2 APN 3 93652428 missense possibly damaging 0.48
IGL02887:Tdpoz2 APN 3 93651739 missense probably benign 0.43
FR4304:Tdpoz2 UTSW 3 93651615 frame shift probably null
FR4340:Tdpoz2 UTSW 3 93651615 frame shift probably null
R1502:Tdpoz2 UTSW 3 93652146 missense probably benign 0.01
R1943:Tdpoz2 UTSW 3 93651923 nonsense probably null
R4825:Tdpoz2 UTSW 3 93652074 missense possibly damaging 0.58
R5055:Tdpoz2 UTSW 3 93651928 missense probably damaging 1.00
R5096:Tdpoz2 UTSW 3 93652512 missense possibly damaging 0.87
R5398:Tdpoz2 UTSW 3 93652134 missense probably damaging 0.97
R6178:Tdpoz2 UTSW 3 93652311 missense probably benign 0.01
R6280:Tdpoz2 UTSW 3 93651883 missense probably benign 0.03
R6338:Tdpoz2 UTSW 3 93652336 missense probably benign 0.30
R6544:Tdpoz2 UTSW 3 93651960 missense possibly damaging 0.81
R6954:Tdpoz2 UTSW 3 93652275 missense probably damaging 1.00
R7351:Tdpoz2 UTSW 3 93652593 nonsense probably null
Posted On2015-04-16