Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Mtbp'

37477

Institutional Source

Beutler Lab

Gene Symbol

Mtbp

Ensembl Gene

ENSMUSG00000022369

Gene Name

Mdm2, transformed 3T3 cell double minute p53 binding protein

Synonyms

MDM2BP

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

55557408-55626423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55586461 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 433 (T433I)

Ref Sequence

ENSEMBL: ENSMUSP00000129396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022998] [ENSMUST00000169667] [ENSMUST00000170046]

Predicted Effect

probably benign
Transcript: ENSMUST00000022998
AA Change: T433I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: T433I

Domain	Start	End	E-Value	Type
Pfam:MTBP_N	1	270	1.2e-116	PFAM
Pfam:MTBP_mid	287	626	1.4e-161	PFAM
Pfam:MTBP_C	630	884	1.3e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169667
AA Change: T60I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: T60I

Domain	Start	End	E-Value	Type
Pfam:MTBP_mid	1	253	2.3e-119	PFAM
Pfam:MTBP_C	257	511	2.5e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170046
AA Change: T433I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: T433I

Domain	Start	End	E-Value	Type
Pfam:MTBP_N	1	276	3.4e-145	PFAM
Pfam:MTBP_mid	286	626	3.1e-171	PFAM

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a reporter allele exhibit early embryonic lethality; interestingly, heterozygous mice are not tumor prone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	Het

Other mutations in Mtbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Mtbp	APN	15	55617508	nonsense	probably null
IGL00988:Mtbp	APN	15	55558498	unclassified	probably benign
IGL01608:Mtbp	APN	15	55557689	nonsense	probably null
IGL02422:Mtbp	APN	15	55563043	missense	possibly damaging	0.59
IGL02664:Mtbp	APN	15	55619643	missense	probably benign	0.01
IGL03160:Mtbp	APN	15	55620617	splice site	probably benign
R0008:Mtbp	UTSW	15	55586493	splice site	probably benign
R0008:Mtbp	UTSW	15	55586493	splice site	probably benign
R0242:Mtbp	UTSW	15	55577486	missense	possibly damaging	0.60
R0242:Mtbp	UTSW	15	55577486	missense	possibly damaging	0.60
R0302:Mtbp	UTSW	15	55625424	missense	probably damaging	0.99
R0387:Mtbp	UTSW	15	55611029	missense	possibly damaging	0.82
R0402:Mtbp	UTSW	15	55569070	nonsense	probably null
R0648:Mtbp	UTSW	15	55603201	missense	probably benign
R0735:Mtbp	UTSW	15	55562942	nonsense	probably null
R0845:Mtbp	UTSW	15	55563090	critical splice donor site	probably null
R1186:Mtbp	UTSW	15	55564671	missense	probably null	1.00
R1398:Mtbp	UTSW	15	55577537	nonsense	probably null
R1500:Mtbp	UTSW	15	55617555	missense	probably damaging	0.99
R1712:Mtbp	UTSW	15	55571294	critical splice acceptor site	probably null
R1893:Mtbp	UTSW	15	55557668	missense	probably benign	0.37
R1902:Mtbp	UTSW	15	55606715	missense	probably damaging	0.99
R1917:Mtbp	UTSW	15	55564677	splice site	probably benign
R2267:Mtbp	UTSW	15	55569160	critical splice donor site	probably null
R2268:Mtbp	UTSW	15	55569160	critical splice donor site	probably null
R2269:Mtbp	UTSW	15	55569160	critical splice donor site	probably null
R2383:Mtbp	UTSW	15	55566194	missense	probably damaging	1.00
R2512:Mtbp	UTSW	15	55577536	missense	probably damaging	0.98
R2924:Mtbp	UTSW	15	55619814	missense	probably benign	0.21
R2925:Mtbp	UTSW	15	55619814	missense	probably benign	0.21
R4164:Mtbp	UTSW	15	55609521	missense	probably benign
R4232:Mtbp	UTSW	15	55620677	nonsense	probably null
R4255:Mtbp	UTSW	15	55620685	missense	possibly damaging	0.66
R4438:Mtbp	UTSW	15	55603215	missense	probably benign	0.41
R5009:Mtbp	UTSW	15	55603187	missense	probably benign
R5132:Mtbp	UTSW	15	55558569	missense	possibly damaging	0.92
R5685:Mtbp	UTSW	15	55562772	missense	probably damaging	1.00
R5933:Mtbp	UTSW	15	55571327	missense	possibly damaging	0.92
R6377:Mtbp	UTSW	15	55557620	start codon destroyed	probably null	0.32
R6554:Mtbp	UTSW	15	55567249	missense	probably damaging	0.99
R6811:Mtbp	UTSW	15	55606546	intron	probably null
R6942:Mtbp	UTSW	15	55567200	missense	probably damaging	0.99
R7134:Mtbp	UTSW	15	55558565	missense	probably benign	0.00
R7374:Mtbp	UTSW	15	55562959	missense	possibly damaging	0.95
R7397:Mtbp	UTSW	15	55569151	missense	probably benign	0.06
R7520:Mtbp	UTSW	15	55577346	intron	probably benign
R7655:Mtbp	UTSW	15	55609526	missense	unknown
R7656:Mtbp	UTSW	15	55609526	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCGTGTGATAAGCACCATTTCTGG -3'
(R):5'- GCTATTTTGAGGCAGGGAGAGCAT -3'

Sequencing Primer
(F):5'- GATAAGCACCATTTCTGGTTCTTAGC -3'
(R):5'- CATGGACGTGAAGGTGGGTAG -3'

Posted On

2013-05-23