Incidental Mutation 'R5096:Tdpoz2'
ID388029
Institutional Source Beutler Lab
Gene Symbol Tdpoz2
Ensembl Gene ENSMUSG00000103362
Gene NameTD and POZ domain containing 2
Synonyms
MMRRC Submission 042685-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.410) question?
Stock #R5096 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location93651542-93652686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93652512 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 51 (E51G)
Ref Sequence ENSEMBL: ENSMUSP00000141299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191960]
Predicted Effect possibly damaging
Transcript: ENSMUST00000191960
AA Change: E51G

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: E51G

DomainStartEndE-ValueType
MATH 24 130 1.27e-6 SMART
BTB 188 287 7.44e-24 SMART
Meta Mutation Damage Score 0.0536 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.6%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 A T 14: 54,679,222 probably benign Het
Adar T A 3: 89,747,291 *728C probably null Het
Ap3b1 A G 13: 94,479,849 R753G unknown Het
Atp9b C T 18: 80,762,184 V720I probably benign Het
AY358078 A C 14: 51,826,118 D407A probably benign Het
Ccdc185 A G 1: 182,748,789 S112P possibly damaging Het
Cir1 A G 2: 73,303,761 S155P probably damaging Het
Colq C T 14: 31,552,954 E76K possibly damaging Het
Cthrc1 T A 15: 39,084,420 I104N probably damaging Het
D930020B18Rik A T 10: 121,667,804 I92L probably benign Het
Eif3i C T 4: 129,600,444 E21K probably damaging Het
Fam114a1 T A 5: 64,979,891 M59K probably benign Het
Fam163b A G 2: 27,112,749 S79P probably benign Het
Fam181b T G 7: 93,081,245 probably benign Het
Fsip2 G A 2: 82,991,116 S5731N probably benign Het
Fzd9 C T 5: 135,249,859 V391I probably damaging Het
Gbp5 A G 3: 142,501,361 D97G probably damaging Het
Gm10715 T C 9: 3,038,157 probably benign Het
Grhl1 A T 12: 24,603,050 K418M probably damaging Het
H2-Q4 T A 17: 35,379,713 probably benign Het
Hmcn1 C A 1: 150,610,669 A4329S probably damaging Het
Hspa8 T C 9: 40,802,901 probably benign Het
Ica1l T C 1: 60,028,154 T26A possibly damaging Het
Ifi209 T A 1: 173,644,734 N380K probably benign Het
Inpp5e G T 2: 26,399,525 N482K probably damaging Het
Iqsec3 C T 6: 121,386,698 V866M probably damaging Het
Kbtbd2 A G 6: 56,779,275 V492A probably benign Het
Kcnb2 A G 1: 15,710,844 R647G probably benign Het
Lcmt1 T G 7: 123,401,468 V75G probably damaging Het
Lrp4 A G 2: 91,485,792 I752V possibly damaging Het
Mmp17 C A 5: 129,605,563 P422Q probably damaging Het
Myo3a A T 2: 22,574,242 H165L probably benign Het
Nos3 C T 5: 24,371,957 T494I probably damaging Het
Olfr1184 C T 2: 88,487,302 T190I possibly damaging Het
Olfr356 T C 2: 36,937,803 V228A possibly damaging Het
Olfr52 A G 2: 86,181,932 Y60H probably damaging Het
Olfr638 T C 7: 104,003,460 Y68H probably benign Het
Pkn2 A C 3: 142,839,331 V27G probably damaging Het
Scube2 T C 7: 109,799,244 probably benign Het
Skint7 A G 4: 111,981,955 I149V probably damaging Het
Smc4 T A 3: 69,021,279 I412K probably damaging Het
Snx19 T A 9: 30,428,786 C407S probably benign Het
Speer3 C G 5: 13,796,380 A238G possibly damaging Het
Sytl2 T A 7: 90,376,082 I426N possibly damaging Het
Tbce A T 13: 14,029,405 probably benign Het
Tmem221 A G 8: 71,558,709 L34P probably damaging Het
Tmem92 T C 11: 94,779,036 T90A probably benign Het
Tpr A G 1: 150,446,202 D42G probably damaging Het
Wt1 A G 2: 105,143,125 T237A probably 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
IGL02357: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
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
Predicted Primers PCR Primer
(F):5'- AGCCAATTCCGATGGGAGAG -3'
(R):5'- AAGTACCTCCAGCAGAAATGTC -3'

Sequencing Primer
(F):5'- TAGGGACATTCAAGCTCTGC -3'
(R):5'- CCTCCAGCAGAAATGTCAGGGG -3'
Posted On2016-06-06