Incidental Mutation 'IGL02662:Tpd52'
ID302602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpd52
Ensembl Gene ENSMUSG00000027506
Gene Nametumor protein D52
SynonymsmD52
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL02662
Quality Score
Status
Chromosome3
Chromosomal Location8925593-9004723 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 8944715 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063496] [ENSMUST00000091354] [ENSMUST00000091355] [ENSMUST00000094381] [ENSMUST00000120143] [ENSMUST00000121038] [ENSMUST00000124956] [ENSMUST00000134788] [ENSMUST00000145905] [ENSMUST00000155450]
Predicted Effect probably null
Transcript: ENSMUST00000063496
SMART Domains Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 7 180 2.8e-69 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000091354
SMART Domains Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:TPD52 46 210 4.7e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000091355
SMART Domains Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 7 185 7.5e-70 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094381
SMART Domains Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
low complexity region 30 42 N/A INTRINSIC
Pfam:TPD52 48 232 1.3e-74 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120143
SMART Domains Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 7 171 2.4e-71 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000121038
SMART Domains Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 1 148 2.3e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124956
SMART Domains Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 1 77 8.8e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129736
Predicted Effect probably null
Transcript: ENSMUST00000134788
SMART Domains Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Pfam:TPD52 56 206 1e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000145905
SMART Domains Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
Pfam:TPD52 4 168 8.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155450
SMART Domains Protein: ENSMUSP00000120317
Gene: ENSMUSG00000027506

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
transmembrane domain 36 55 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,746,895 probably null Het
Ap5z1 G A 5: 142,476,889 probably null Het
Cdhr5 T G 7: 141,274,503 I120L possibly damaging Het
Chd5 C T 4: 152,372,131 S975F probably damaging Het
Cts3 G T 13: 61,568,057 Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 probably benign Het
Defb39 A G 8: 19,052,875 V68A probably benign Het
Dgki A G 6: 36,862,486 probably benign Het
Dhtkd1 G A 2: 5,899,972 P867L probably damaging Het
Gata5 C T 2: 180,327,751 probably benign Het
Glt28d2 T A 3: 85,872,116 I17F probably damaging Het
Gm11397 A G 13: 33,404,530 N366S possibly damaging Het
Gstm2 T C 3: 107,985,062 Y82C possibly damaging Het
Hs6st1 T A 1: 36,103,812 L276* probably null Het
Iqgap1 T C 7: 80,743,079 D712G probably benign Het
Kdm4c T C 4: 74,404,821 S997P probably damaging Het
Ksr1 G A 11: 79,036,725 T289I probably damaging Het
Lingo4 T C 3: 94,401,817 probably benign Het
Ncapd2 A G 6: 125,176,731 S674P probably damaging Het
Nek1 G A 8: 61,104,184 V841I probably benign Het
Olfr1104 T C 2: 87,022,002 T181A probably benign Het
Olfr514 T C 7: 108,825,745 T85A probably benign Het
Pigx A G 16: 32,087,383 V40A probably damaging Het
Pla2g2d T G 4: 138,778,695 M5R possibly damaging Het
Ppa2 G T 3: 133,367,883 R234I probably damaging Het
Rbms1 A C 2: 60,762,306 L221R probably damaging Het
Rnasel C A 1: 153,754,111 N124K probably damaging Het
Sigirr T A 7: 141,094,794 probably benign Het
Tas2r136 A T 6: 132,777,708 V152E probably damaging Het
Tlnrd1 A G 7: 83,882,536 L229S probably damaging Het
Tlnrd1 C T 7: 83,882,819 V135M possibly damaging Het
Top1mt A G 15: 75,668,705 V239A probably damaging Het
Trim16 T A 11: 62,840,557 L331Q possibly damaging Het
Ttll4 A G 1: 74,687,231 probably null Het
Vmn1r27 T A 6: 58,215,287 D244V probably damaging Het
Vmn2r72 A C 7: 85,738,183 D724E probably benign Het
Zfp563 T C 17: 33,102,279 W18R probably damaging Het
Zswim8 T C 14: 20,713,074 V347A probably benign Het
Other mutations in Tpd52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Tpd52 APN 3 8947632 splice site probably null
IGL02994:Tpd52 APN 3 8947530 missense probably benign 0.00
R0319:Tpd52 UTSW 3 8953689 missense probably benign 0.00
R0960:Tpd52 UTSW 3 8943590 splice site probably null
R1366:Tpd52 UTSW 3 8963933 missense probably damaging 0.99
R1828:Tpd52 UTSW 3 8947519 missense probably damaging 1.00
R1869:Tpd52 UTSW 3 8953802 splice site probably null
R2872:Tpd52 UTSW 3 9003406 nonsense probably null
R2872:Tpd52 UTSW 3 9003406 nonsense probably null
R4761:Tpd52 UTSW 3 8963873 missense probably damaging 1.00
R4907:Tpd52 UTSW 3 8944608 splice site probably null
R4997:Tpd52 UTSW 3 8934996 missense probably damaging 1.00
R5384:Tpd52 UTSW 3 8931195 intron probably null
R5385:Tpd52 UTSW 3 8931195 intron probably null
R5441:Tpd52 UTSW 3 9003406 nonsense probably null
R7154:Tpd52 UTSW 3 8963856 nonsense probably null
Z1177:Tpd52 UTSW 3 8931144 missense probably damaging 1.00
Posted On2015-04-16