Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00672:Trp53bp2'

14595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00672

Quality Score

Status

Chromosome

Chromosomal Location

182409172-182462432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 182440976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 205 (H205L)

Ref Sequence

ENSEMBL: ENSMUSP00000112508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117245]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117245
AA Change: H205L

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: H205L

Domain	Start	End	E-Value	Type
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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,746,436		probably benign	Het
Adamts20	A	G	15: 94,341,105	I744T	probably damaging	Het
Akap11	G	A	14: 78,511,341	A1202V	probably damaging	Het
C130032M10Rik	A	G	9: 114,515,830	V340A	probably damaging	Het
Csnk1g1	G	T	9: 66,007,746	S229I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,697	S410G	probably benign	Het
Eif2s2	T	A	2: 154,887,709	I98L	probably benign	Het
En1	T	C	1: 120,606,938	F319L	unknown	Het
Fmnl3	A	T	15: 99,325,681	Y345N	probably damaging	Het
Fras1	T	C	5: 96,759,450		probably benign	Het
Gm12695	A	G	4: 96,749,182	L366P	probably damaging	Het
Golga3	T	C	5: 110,212,244	L1156S	probably damaging	Het
Gpcpd1	G	T	2: 132,530,548		probably benign	Het
Hvcn1	C	A	5: 122,238,471	F155L	probably benign	Het
Jcad	T	C	18: 4,674,835	S866P	possibly damaging	Het
Kdm4c	A	G	4: 74,343,514	N642S	probably benign	Het
Kif2c	T	C	4: 117,178,246	I2V	probably benign	Het
Klri2	T	A	6: 129,733,071	I189F	probably damaging	Het
Lair1	T	A	7: 4,028,731	T126S	probably benign	Het
Lins1	A	T	7: 66,714,531	K725*	probably null	Het
Lman2l	T	A	1: 36,438,834		probably null	Het
Map3k10	T	C	7: 27,661,601	K496E	probably damaging	Het
Nr2f2	A	G	7: 70,357,766	S170P	possibly damaging	Het
Polr1b	G	A	2: 129,125,472	M928I	probably damaging	Het
Rffl	G	A	11: 82,818,484	P38S	probably damaging	Het
Rtl1	T	C	12: 109,593,000	S802G	probably benign	Het
Sema5a	A	G	15: 32,618,880	E518G	probably benign	Het
Smdt1	G	A	15: 82,346,183	V34I	possibly damaging	Het
Ssr3	C	A	3: 65,391,410	A59S	probably benign	Het
Stk4	A	G	2: 164,118,079	K59E	probably benign	Het
Syne2	C	T	12: 76,064,184	T1024M	probably damaging	Het
Taf5	A	T	19: 47,082,301	D723V	probably damaging	Het
Tescl	T	C	7: 24,333,610	T97A	probably benign	Het
Thada	A	T	17: 84,444,218	S443R	probably benign	Het
Ube4b	A	G	4: 149,381,366	V209A	probably benign	Het
Zfp957	G	T	14: 79,213,398	D320E	unknown	Het
Zfr2	T	C	10: 81,242,085	S249P	probably damaging	Het
Zmpste24	A	G	4: 121,065,860	I386T	probably damaging	Het

Other mutations in Trp53bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03348:Trp53bp2	APN	1	182453748	missense	probably damaging	1.00
ganglion	UTSW	1	182428910	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
R8729:Trp53bp2	UTSW	1	182449022	missense	probably benign
R8850:Trp53bp2	UTSW	1	182428910	missense	probably damaging	1.00
R8921:Trp53bp2	UTSW	1	182446406	missense
R8982:Trp53bp2	UTSW	1	182435436	critical splice donor site	probably null
R8988:Trp53bp2	UTSW	1	182440868	missense	possibly damaging	0.94
R9135:Trp53bp2	UTSW	1	182458763	missense	probably damaging	0.99
R9424:Trp53bp2	UTSW	1	182446299	missense	possibly damaging	0.63
R9563:Trp53bp2	UTSW	1	182448813	missense	probably benign

Posted On

2012-12-06