Incidental Mutation 'IGL02539:Trp53bp2'
ID297632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Nametransformation related protein 53 binding protein 2
Synonyms53BP2, ASPP2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02539
Quality Score
Status
Chromosome1
Chromosomal Location182409172-182462432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 182448691 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 746 (P746T)
Ref Sequence ENSEMBL: ENSMUSP00000112508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117245]
Predicted Effect probably damaging
Transcript: ENSMUST00000117245
AA Change: P746T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: P746T

DomainStartEndE-ValueType
PDB:2UWQ|A 4 89 1e-53 PDB
Blast:RA 10 91 7e-50 BLAST
coiled coil region 129 306 N/A INTRINSIC
low complexity region 401 412 N/A INTRINSIC
low complexity region 495 512 N/A INTRINSIC
PDB:4IRV|H 728 788 5e-25 PDB
low complexity region 865 890 N/A INTRINSIC
ANK 964 993 2.52e-6 SMART
ANK 997 1026 7.13e-6 SMART
SH3 1066 1124 6.2e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191804
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Specc1l A T 10: 75,267,508 I889L probably benign Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Trp53bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Trp53bp2 APN 1 182440976 missense probably benign 0.17
IGL00920:Trp53bp2 APN 1 182444654 unclassified probably benign
IGL01336:Trp53bp2 APN 1 182431583 missense probably damaging 1.00
IGL01760:Trp53bp2 APN 1 182448428 missense possibly damaging 0.68
IGL02609:Trp53bp2 APN 1 182453724 missense probably benign 0.21
IGL02720:Trp53bp2 APN 1 182453724 missense probably benign 0.21
IGL02962:Trp53bp2 APN 1 182431595 missense probably benign 0.00
IGL03348:Trp53bp2 APN 1 182453748 missense probably damaging 1.00
Nosa UTSW 1 182455740 missense probably damaging 1.00
R0012:Trp53bp2 UTSW 1 182444718 missense probably damaging 0.99
R0012:Trp53bp2 UTSW 1 182444718 missense probably damaging 0.99
R0347:Trp53bp2 UTSW 1 182441648 missense probably benign 0.08
R1422:Trp53bp2 UTSW 1 182446464 missense probably benign
R1833:Trp53bp2 UTSW 1 182429016 missense probably damaging 0.98
R1845:Trp53bp2 UTSW 1 182458903 missense probably damaging 1.00
R1893:Trp53bp2 UTSW 1 182431628 missense probably benign 0.01
R1927:Trp53bp2 UTSW 1 182452664 missense probably damaging 0.98
R2017:Trp53bp2 UTSW 1 182449015 missense probably benign
R2020:Trp53bp2 UTSW 1 182442819 missense probably damaging 1.00
R2072:Trp53bp2 UTSW 1 182458867 missense probably benign 0.00
R2120:Trp53bp2 UTSW 1 182441639 missense probably benign 0.06
R2504:Trp53bp2 UTSW 1 182441639 missense probably benign 0.26
R2970:Trp53bp2 UTSW 1 182431598 missense probably damaging 1.00
R3051:Trp53bp2 UTSW 1 182453782 missense probably damaging 0.96
R3052:Trp53bp2 UTSW 1 182453782 missense probably damaging 0.96
R3053:Trp53bp2 UTSW 1 182453782 missense probably damaging 0.96
R3151:Trp53bp2 UTSW 1 182428960 missense probably damaging 1.00
R4043:Trp53bp2 UTSW 1 182449061 missense possibly damaging 0.93
R4757:Trp53bp2 UTSW 1 182458774 missense probably benign 0.04
R4785:Trp53bp2 UTSW 1 182448997 missense probably benign
R4817:Trp53bp2 UTSW 1 182441805 critical splice donor site probably null
R4836:Trp53bp2 UTSW 1 182431582 missense probably damaging 1.00
R5040:Trp53bp2 UTSW 1 182444706 missense probably damaging 1.00
R5882:Trp53bp2 UTSW 1 182442212 missense possibly damaging 0.87
R6007:Trp53bp2 UTSW 1 182455740 missense probably damaging 1.00
R6356:Trp53bp2 UTSW 1 182448997 missense probably benign
R6886:Trp53bp2 UTSW 1 182429043 critical splice donor site probably null
R6987:Trp53bp2 UTSW 1 182446635 missense probably damaging 0.99
R7026:Trp53bp2 UTSW 1 182442735 missense probably benign
R7141:Trp53bp2 UTSW 1 182448508 missense
R7363:Trp53bp2 UTSW 1 182444666 missense probably damaging 0.99
R7452:Trp53bp2 UTSW 1 182446568 nonsense probably null
R7816:Trp53bp2 UTSW 1 182448695 missense probably damaging 0.99
R7838:Trp53bp2 UTSW 1 182455819 missense probably damaging 1.00
Posted On2015-04-16