Incidental Mutation 'IGL00926:Tpd52'
ID27099
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: 0.180) question?
Stock #IGL00926
Quality Score
Status
Chromosome3
Chromosomal Location8925593-9004723 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 8947632 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063496] [ENSMUST00000063496] [ENSMUST00000091354] [ENSMUST00000091354] [ENSMUST00000091355] [ENSMUST00000091355] [ENSMUST00000094381] [ENSMUST00000094381] [ENSMUST00000120143] [ENSMUST00000120143] [ENSMUST00000121038] [ENSMUST00000121038] [ENSMUST00000124956] [ENSMUST00000124956] [ENSMUST00000134788] [ENSMUST00000134788] [ENSMUST00000145905] [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: 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: 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: 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: 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: 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: 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 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: 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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,486,285 M53L probably benign Het
Apob T C 12: 8,015,421 V4097A probably benign Het
Brip1 T C 11: 86,148,401 K436E possibly damaging Het
Cadps C A 14: 12,491,795 R785L probably damaging Het
Cavin2 A G 1: 51,300,877 K238E probably damaging Het
Ccdc158 G A 5: 92,650,767 T358I probably damaging Het
Cds1 A G 5: 101,809,901 I246M probably damaging Het
Cep19 A G 16: 32,107,080 E102G probably damaging Het
Clec4a1 T A 6: 122,922,055 C28S possibly damaging Het
Csmd3 T A 15: 47,710,964 Y2082F possibly damaging Het
Fbn1 T A 2: 125,319,042 T2193S possibly damaging Het
Gm24124 G T 19: 13,634,057 probably benign Het
Gpbp1l1 T A 4: 116,587,513 probably null Het
Helq T C 5: 100,765,082 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Itga3 G A 11: 95,065,886 H122Y probably damaging Het
Mettl18 T A 1: 163,996,226 S39T possibly damaging Het
Ndst4 A T 3: 125,561,453 T337S probably benign Het
Neb A G 2: 52,270,317 probably benign Het
Nrbp1 T C 5: 31,243,797 S6P probably benign Het
Olfr444 A T 6: 42,956,436 probably benign Het
Olfr618 A G 7: 103,598,162 N282S possibly damaging Het
Olfr633 A G 7: 103,946,997 T144A probably benign Het
Oprk1 A G 1: 5,598,905 I191M probably damaging Het
Psap T C 10: 60,292,536 V69A probably damaging Het
Scn7a C T 2: 66,684,131 E1100K probably benign Het
Tmem145 A G 7: 25,314,730 N423S possibly damaging Het
Trmt13 G A 3: 116,590,235 Q58* probably null Het
Ttn T C 2: 76,758,781 E21346G probably damaging Het
Other mutations in Tpd52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02662:Tpd52 APN 3 8944715 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 On2013-04-17