Mutagenetix > Incidental Mutation

Incidental Mutation 'R7655:Mtbp'

591161

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7655 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

55557408-55626423 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55609526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 629 (V629L)

Ref Sequence

ENSEMBL: ENSMUSP00000129396 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

probably benign
Transcript: ENSMUST00000022998

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369

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

SMART Domains

Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369

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

unknown
Transcript: ENSMUST00000170046
AA Change: V629L

SMART Domains

Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: V629L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	G	12: 83,992,917	Y400C	probably benign	Het
Agbl1	A	G	7: 76,409,332	M237V		Het
Arntl2	A	G	6: 146,806,442	T21A	probably benign	Het
Atrnl1	C	A	19: 57,611,379	S9*	probably null	Het
BC031181	A	T	18: 75,009,335	K71*	probably null	Het
Brpf1	A	T	6: 113,314,874	M294L	probably benign	Het
Camk2g	T	G	14: 20,739,342	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,118,465	R94W	probably damaging	Het
Cd244	T	A	1: 171,577,255	L225Q	probably damaging	Het
Chsy1	G	T	7: 66,171,030	V338F	probably damaging	Het
Col14a1	A	G	15: 55,362,450	I170V	unknown	Het
Col6a2	G	T	10: 76,607,756	Q492K	probably benign	Het
Dnah12	G	T	14: 26,859,316	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,496,005	S2699G	possibly damaging	Het
Fam206a	A	G	4: 56,804,218	I78V	probably benign	Het
Fsip2	A	G	2: 82,977,542	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,769,667	A127T	probably benign	Het
Glp1r	T	C	17: 30,930,598		probably null	Het
Gm15922	T	C	7: 3,739,282	E82G	probably damaging	Het
Gm19410	A	T	8: 35,809,099	M1637L	probably benign	Het
Gm906	T	G	13: 50,247,086	K401N	probably benign	Het
Grm5	T	G	7: 88,130,251	D998E	probably benign	Het
Krtcap3	A	G	5: 31,252,560	T157A	probably damaging	Het
Luc7l2	A	G	6: 38,603,464	R333G	unknown	Het
Mdc1	T	G	17: 35,850,881	S895R	probably benign	Het
Mef2a	G	A	7: 67,295,394	T80M	probably damaging	Het
Mitd1	T	A	1: 37,885,275	I65F	probably benign	Het
Mms19	A	G	19: 41,944,572	L1026P	probably damaging	Het
Ncapd3	T	A	9: 27,055,505	I545N	possibly damaging	Het
Nin	G	A	12: 70,042,768	T1291M		Het
Olfr1487	A	T	19: 13,619,833	I181F	probably damaging	Het
Olfr419	T	A	1: 174,250,218	K236N	probably damaging	Het
Orc3	G	T	4: 34,587,032	C352*	probably null	Het
Oxct2b	G	A	4: 123,117,757	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,479,405	T473S	probably benign	Het
Phkg2	G	A	7: 127,582,902	G365D	probably damaging	Het
Ppp2r3a	A	T	9: 101,211,712	F471I	probably benign	Het
Prl3d1	T	C	13: 27,100,035	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,984,128	F14L	probably benign	Het
Prox1	A	G	1: 190,162,221	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,540,983	F881I	probably benign	Het
Rab3ip	A	G	10: 116,914,139	I363T	probably benign	Het
Rapgef3	T	C	15: 97,761,209	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,694,453	P1559L	probably benign	Het
Rnf180	T	C	13: 105,167,588	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,730,986	I53T	probably benign	Het
Rtl1	T	C	12: 109,591,008	I1466V	unknown	Het
Saxo2	A	G	7: 82,635,351	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,670,380	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,865,497	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,763,244	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,105,908	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,996,563	H98P	possibly damaging	Het
T2	T	A	17: 8,418,215	C337*	probably null	Het
Tbc1d19	A	G	5: 53,897,035	Y455C	probably damaging	Het
Thbd	A	G	2: 148,407,420	L176P	probably damaging	Het
Tmem116	A	G	5: 121,452,189		probably null	Het
Tmem25	C	T	9: 44,798,343	V54I	possibly damaging	Het
Trpm4	C	T	7: 45,321,809	V378I	probably benign	Het
Trrap	G	T	5: 144,842,612	W3129C	probably damaging	Het
Ttn	A	T	2: 76,728,316	D29740E	probably damaging	Het
Vcan	C	T	13: 89,685,114	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,910,982	D388E	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
R0280:Mtbp	UTSW	15	55586461	missense	probably benign	0.04
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	splice site	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
R7656:Mtbp	UTSW	15	55609526	missense	unknown
R8472:Mtbp	UTSW	15	55586352	missense	probably damaging	0.99
R9215:Mtbp	UTSW	15	55620639	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCACCTTAGAGTGCACCAAG -3'
(R):5'- CAGGGTTGGCCTTTACATGG -3'

Sequencing Primer
(F):5'- CCTTAGAGTGCACCAAGGGAATAAG -3'
(R):5'- CATGGTGACGTGCAGAGTG -3'

Posted On

2019-11-12