Incidental Mutation 'IGL03348:Trp53bp2'
ID419557
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 #IGL03348
Quality Score
Status
Chromosome1
Chromosomal Location182409172-182462432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 182453748 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 971 (N971K)
Ref Sequence ENSEMBL: ENSMUSP00000112508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117245]
Predicted Effect probably damaging
Transcript: ENSMUST00000117245
AA Change: N971K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: N971K

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 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 99,421,692 noncoding transcript Het
Adgrv1 T C 13: 81,499,058 N3121S possibly damaging Het
Aldh16a1 C T 7: 45,141,975 R102Q possibly damaging Het
Atp9b A T 18: 80,836,422 I346K possibly damaging Het
Baiap2l1 T C 5: 144,278,531 K388R probably benign Het
BC024978 T G 7: 27,197,120 probably null Het
Cfap65 A C 1: 74,927,619 I303S probably damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Col12a1 A G 9: 79,693,430 S791P possibly damaging Het
Ctsz T A 2: 174,428,697 I231F probably damaging Het
Dnah8 A G 17: 30,746,986 T2431A probably damaging Het
Eif4b T C 15: 102,093,031 probably benign Het
Epha4 T C 1: 77,507,172 I67V possibly damaging Het
Exoc1 T A 5: 76,535,593 V55D probably damaging Het
Exosc8 A T 3: 54,732,722 D72E possibly damaging Het
F5 C T 1: 164,194,152 P1399S possibly damaging Het
Fmo1 T A 1: 162,850,151 N132I possibly damaging Het
Fndc1 T A 17: 7,772,647 H739L unknown Het
Glb1l2 T C 9: 26,765,680 D415G probably benign Het
Gphn T A 12: 78,627,119 H498Q probably damaging Het
Lrrc56 A G 7: 141,207,240 N342S probably benign Het
Mbnl3 G A X: 51,164,548 T16I probably damaging Het
Mrps5 T G 2: 127,601,385 H294Q probably damaging Het
Neu4 A G 1: 94,024,974 Y355C possibly damaging Het
Obscn A T 11: 59,050,362 D5105E probably damaging Het
Olfr1187-ps1 T C 2: 88,540,141 noncoding transcript Het
Olfr1305 C A 2: 111,873,148 A236S probably damaging Het
Olfr498 A G 7: 108,465,408 D28G probably benign Het
Olfr725 A G 14: 50,034,755 I216T probably benign Het
Parp1 T A 1: 180,577,707 probably benign Het
Plac1 A T X: 53,070,640 N64K probably damaging Het
Plcd1 C A 9: 119,072,490 K655N possibly damaging Het
Psme4 T C 11: 30,876,796 S1772P probably damaging Het
Shcbp1 C T 8: 4,765,089 V130I probably benign Het
Slc25a11 T C 11: 70,645,344 probably benign Het
Svep1 C T 4: 58,113,635 G1004E probably damaging Het
Tars2 T C 3: 95,740,268 probably null Het
Tbc1d12 C T 19: 38,916,620 T593I probably damaging Het
Tcerg1l T A 7: 138,213,371 E526D probably damaging Het
Tmcc3 G A 10: 94,579,080 V215M possibly damaging Het
Trappc8 T C 18: 20,852,781 D601G probably damaging Het
Ube2g2 A T 10: 77,630,877 E36D probably benign Het
Uggt2 T A 14: 119,070,888 R360S probably benign Het
Utp20 A G 10: 88,758,317 V2182A probably benign 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
IGL02539:Trp53bp2 APN 1 182448691 missense probably damaging 0.99
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
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 On2016-08-02