Incidental Mutation 'IGL01780:Tdpoz2'
ID 154148
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tdpoz2
Ensembl Gene ENSMUSG00000103362
Gene Name TD and POZ domain containing 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.351) question?
Stock # IGL01780
Quality Score
Status
Chromosome 3
Chromosomal Location 93558849-93559993 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93559735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 79 (V79A)
Ref Sequence ENSEMBL: ENSMUSP00000141299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191960]
AlphaFold no structure available at present
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Aopep A G 13: 63,357,939 (GRCm39) N648D probably benign Het
BC024139 C A 15: 76,005,343 (GRCm39) L506F probably benign Het
Bltp3a T C 17: 28,112,474 (GRCm39) L1221P probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Eml6 T C 11: 29,755,175 (GRCm39) M867V probably benign Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gmds A T 13: 32,409,145 (GRCm39) Y106* probably null Het
Homez T C 14: 55,095,355 (GRCm39) T118A probably damaging Het
Kcnh7 G A 2: 62,667,507 (GRCm39) T344I probably benign Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Krt13 A T 11: 100,010,539 (GRCm39) L207Q probably damaging Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Lrp2 A C 2: 69,316,528 (GRCm39) V2151G possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mrgpra6 T C 7: 46,838,497 (GRCm39) T234A probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or8w1 T C 2: 87,465,424 (GRCm39) I222M possibly damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Patl2 A C 2: 121,952,327 (GRCm39) S468R probably damaging Het
Pcdhb1 T C 18: 37,399,575 (GRCm39) S509P probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rasgrp1 A G 2: 117,115,359 (GRCm39) L743P probably benign Het
Rpusd4 G A 9: 35,179,720 (GRCm39) R71Q probably damaging Het
Rsf1 C T 7: 97,313,977 (GRCm39) probably benign Het
Scaf11 T C 15: 96,318,725 (GRCm39) T280A possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tenm2 A G 11: 35,937,768 (GRCm39) M1635T probably benign Het
Vmn1r195 A G 13: 22,463,255 (GRCm39) T242A probably benign Het
Zfp423 A G 8: 88,508,136 (GRCm39) V736A probably damaging Het
Other mutations in Tdpoz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Tdpoz2 APN 3 93,559,598 (GRCm39) missense probably damaging 1.00
IGL02350:Tdpoz2 APN 3 93,559,735 (GRCm39) missense possibly damaging 0.48
IGL02357:Tdpoz2 APN 3 93,559,735 (GRCm39) missense possibly damaging 0.48
IGL02887:Tdpoz2 APN 3 93,559,046 (GRCm39) missense probably benign 0.43
FR4304:Tdpoz2 UTSW 3 93,558,922 (GRCm39) frame shift probably null
FR4340:Tdpoz2 UTSW 3 93,558,922 (GRCm39) frame shift probably null
R1502:Tdpoz2 UTSW 3 93,559,453 (GRCm39) missense probably benign 0.01
R1943:Tdpoz2 UTSW 3 93,559,230 (GRCm39) nonsense probably null
R4825:Tdpoz2 UTSW 3 93,559,381 (GRCm39) missense possibly damaging 0.58
R5055:Tdpoz2 UTSW 3 93,559,235 (GRCm39) missense probably damaging 1.00
R5096:Tdpoz2 UTSW 3 93,559,819 (GRCm39) missense possibly damaging 0.87
R5398:Tdpoz2 UTSW 3 93,559,441 (GRCm39) missense probably damaging 0.97
R6178:Tdpoz2 UTSW 3 93,559,618 (GRCm39) missense probably benign 0.01
R6280:Tdpoz2 UTSW 3 93,559,190 (GRCm39) missense probably benign 0.03
R6338:Tdpoz2 UTSW 3 93,559,643 (GRCm39) missense probably benign 0.30
R6544:Tdpoz2 UTSW 3 93,559,267 (GRCm39) missense possibly damaging 0.81
R6954:Tdpoz2 UTSW 3 93,559,582 (GRCm39) missense probably damaging 1.00
R7351:Tdpoz2 UTSW 3 93,559,900 (GRCm39) nonsense probably null
R8473:Tdpoz2 UTSW 3 93,559,153 (GRCm39) missense probably damaging 0.98
R8673:Tdpoz2 UTSW 3 93,558,918 (GRCm39) nonsense probably null
Posted On 2014-02-04