Mutagenetix > Incidental Mutation

Incidental Mutation 'R0387:Mtbp'

31374

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

038593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55420804-55489819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55474425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 280 (I280V)

Ref Sequence

ENSEMBL: ENSMUSP00000128615 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022998
AA Change: I653V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: I653V

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

possibly damaging
Transcript: ENSMUST00000169667
AA Change: I280V

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: I280V

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

SMART Domains

Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369

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

0.0631

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.2%
20x: 85.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,932,075 (GRCm39)		probably null	Het
Abcc9	T	A	6: 142,585,230 (GRCm39)	K825*	probably null	Het
Afp	T	C	5: 90,645,150 (GRCm39)	C189R	probably damaging	Het
Akap9	T	C	5: 4,001,678 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,753,975 (GRCm39)	T1652S	possibly damaging	Het
Atg4b	C	A	1: 93,714,278 (GRCm39)	Q354K	probably benign	Het
Atxn2	T	C	5: 121,940,206 (GRCm39)	S388P	possibly damaging	Het
C2cd3	T	A	7: 100,071,714 (GRCm39)		probably benign	Het
Cacna2d2	C	A	9: 107,391,080 (GRCm39)	T403K	probably damaging	Het
Cap2	C	T	13: 46,713,992 (GRCm39)	H79Y	probably damaging	Het
Car10	G	T	11: 93,473,847 (GRCm39)		probably null	Het
Ccno	T	C	13: 113,126,401 (GRCm39)	L290P	probably damaging	Het
Cfap69	T	C	5: 5,639,303 (GRCm39)	K624E	probably damaging	Het
Ctnna3	A	G	10: 64,421,909 (GRCm39)	M568V	probably benign	Het
Cyp1b1	C	A	17: 80,021,203 (GRCm39)	V180L	probably benign	Het
Cyp2u1	G	T	3: 131,089,201 (GRCm39)		probably null	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnm1	C	T	2: 32,210,593 (GRCm39)	G1S	possibly damaging	Het
Dnmt1	A	G	9: 20,829,509 (GRCm39)	L698P	probably damaging	Het
Dock10	C	A	1: 80,517,993 (GRCm39)	C1327F	probably damaging	Het
Dph3b-ps	A	G	13: 106,683,363 (GRCm39)		noncoding transcript	Het
Dpyd	G	A	3: 119,220,875 (GRCm39)	D949N	probably benign	Het
Dync2li1	A	G	17: 84,962,768 (GRCm39)	K345E	possibly damaging	Het
Eml2	T	A	7: 18,916,184 (GRCm39)		probably null	Het
Exoc7	A	G	11: 116,185,227 (GRCm39)		probably benign	Het
Faah	A	T	4: 115,862,889 (GRCm39)	C113*	probably null	Het
Fcf1	T	A	12: 85,019,776 (GRCm39)	D16E	probably benign	Het
Fcgbp	T	C	7: 27,790,879 (GRCm39)		probably benign	Het
Ghr	A	G	15: 3,349,373 (GRCm39)	S602P	probably benign	Het
Gm5114	T	C	7: 39,058,233 (GRCm39)	D462G	probably benign	Het
Gm8186	T	A	17: 26,318,000 (GRCm39)	S66C	probably damaging	Het
Gorab	C	T	1: 163,224,403 (GRCm39)	V133M	probably benign	Het
Gria1	G	A	11: 57,200,710 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,831,238 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,280,276 (GRCm39)	L378P	probably damaging	Het
Htr5b	A	T	1: 121,455,275 (GRCm39)	V215D	probably damaging	Het
Htra1	A	G	7: 130,581,208 (GRCm39)	T319A	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klrb1a	A	C	6: 128,586,697 (GRCm39)	H189Q	possibly damaging	Het
Lhfpl6	A	G	3: 52,950,749 (GRCm39)	T8A	probably benign	Het
Ly75	T	A	2: 60,136,748 (GRCm39)	Y1493F	probably benign	Het
Mfsd5	T	C	15: 102,189,531 (GRCm39)	I301T	possibly damaging	Het
Mlkl	C	T	8: 112,059,982 (GRCm39)	E135K	probably damaging	Het
Mrgprx2	A	C	7: 48,148,908 (GRCm39)	M1R	probably null	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Myo5c	A	T	9: 75,192,303 (GRCm39)		probably benign	Het
Nos3	A	G	5: 24,572,583 (GRCm39)	K174R	probably damaging	Het
Oas2	A	T	5: 120,883,737 (GRCm39)		probably benign	Het
Or8b40	T	A	9: 38,027,066 (GRCm39)		probably null	Het
Pi4kb	G	C	3: 94,892,051 (GRCm39)	E256Q	probably benign	Het
Pik3c2a	T	A	7: 115,972,979 (GRCm39)	I739F	probably damaging	Het
Pla2r1	T	A	2: 60,262,945 (GRCm39)	K1031N	probably benign	Het
Plk4	A	T	3: 40,767,319 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,849,792 (GRCm39)	C349R	probably damaging	Het
Polq	G	T	16: 36,909,679 (GRCm39)	E2354D	probably damaging	Het
Prss22	A	G	17: 24,212,903 (GRCm39)	L278P	probably damaging	Het
Prss3l	A	G	6: 41,420,303 (GRCm39)	I141T	possibly damaging	Het
Ptprk	G	A	10: 28,230,625 (GRCm39)	V239I	possibly damaging	Het
Raph1	T	G	1: 60,549,655 (GRCm39)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripor3	C	T	2: 167,825,692 (GRCm39)	W755*	probably null	Het
Rnd3	G	T	2: 51,038,243 (GRCm39)	D77E	probably damaging	Het
Ryr1	T	C	7: 28,782,792 (GRCm39)		probably benign	Het
Serpinb1a	C	T	13: 33,032,721 (GRCm39)	V63I	probably benign	Het
Six1	T	G	12: 73,092,815 (GRCm39)	Y129S	probably damaging	Het
Spata31d1a	G	A	13: 59,851,315 (GRCm39)	T271I	probably damaging	Het
Stab1	T	C	14: 30,870,058 (GRCm39)	D1387G	probably benign	Het
Stra6	T	A	9: 58,060,466 (GRCm39)	M625K	probably benign	Het
Syne1	T	C	10: 5,301,029 (GRCm39)	S900G	probably benign	Het
Tdpoz4	A	C	3: 93,704,007 (GRCm39)	K101N	probably benign	Het
Tigd2	T	C	6: 59,188,143 (GRCm39)	Y337H	probably benign	Het
Tnxb	A	G	17: 34,902,548 (GRCm39)	I1134V	probably benign	Het
Tspyl5	A	G	15: 33,687,081 (GRCm39)	I288T	probably damaging	Het
Ulk1	A	G	5: 110,936,663 (GRCm39)	V61A	possibly damaging	Het
Xxylt1	A	G	16: 30,776,194 (GRCm39)	Y381H	probably benign	Het
Zcchc9	T	A	13: 91,949,066 (GRCm39)	M12L	probably benign	Het
Zfp106	T	C	2: 120,358,953 (GRCm39)		probably null	Het
Zfp74	T	A	7: 29,634,179 (GRCm39)	T510S	probably benign	Het
Zfp808	A	G	13: 62,317,292 (GRCm39)	T14A	probably damaging	Het

Other mutations in Mtbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Mtbp	APN	15	55,480,904 (GRCm39)	nonsense	probably null
IGL00988:Mtbp	APN	15	55,421,894 (GRCm39)	unclassified	probably benign
IGL01608:Mtbp	APN	15	55,421,085 (GRCm39)	nonsense	probably null
IGL02422:Mtbp	APN	15	55,426,439 (GRCm39)	missense	possibly damaging	0.59
IGL02664:Mtbp	APN	15	55,483,039 (GRCm39)	missense	probably benign	0.01
IGL03160:Mtbp	APN	15	55,484,013 (GRCm39)	splice site	probably benign
R0008:Mtbp	UTSW	15	55,449,889 (GRCm39)	splice site	probably benign
R0008:Mtbp	UTSW	15	55,449,889 (GRCm39)	splice site	probably benign
R0242:Mtbp	UTSW	15	55,440,882 (GRCm39)	missense	possibly damaging	0.60
R0242:Mtbp	UTSW	15	55,440,882 (GRCm39)	missense	possibly damaging	0.60
R0280:Mtbp	UTSW	15	55,449,857 (GRCm39)	missense	probably benign	0.04
R0302:Mtbp	UTSW	15	55,488,820 (GRCm39)	missense	probably damaging	0.99
R0402:Mtbp	UTSW	15	55,432,466 (GRCm39)	nonsense	probably null
R0648:Mtbp	UTSW	15	55,466,597 (GRCm39)	missense	probably benign
R0735:Mtbp	UTSW	15	55,426,338 (GRCm39)	nonsense	probably null
R0845:Mtbp	UTSW	15	55,426,486 (GRCm39)	critical splice donor site	probably null
R1186:Mtbp	UTSW	15	55,428,067 (GRCm39)	missense	probably null	1.00
R1398:Mtbp	UTSW	15	55,440,933 (GRCm39)	nonsense	probably null
R1500:Mtbp	UTSW	15	55,480,951 (GRCm39)	missense	probably damaging	0.99
R1712:Mtbp	UTSW	15	55,434,690 (GRCm39)	critical splice acceptor site	probably null
R1893:Mtbp	UTSW	15	55,421,064 (GRCm39)	missense	probably benign	0.37
R1902:Mtbp	UTSW	15	55,470,111 (GRCm39)	missense	probably damaging	0.99
R1917:Mtbp	UTSW	15	55,428,073 (GRCm39)	splice site	probably benign
R2267:Mtbp	UTSW	15	55,432,556 (GRCm39)	critical splice donor site	probably null
R2268:Mtbp	UTSW	15	55,432,556 (GRCm39)	critical splice donor site	probably null
R2269:Mtbp	UTSW	15	55,432,556 (GRCm39)	critical splice donor site	probably null
R2383:Mtbp	UTSW	15	55,429,590 (GRCm39)	missense	probably damaging	1.00
R2512:Mtbp	UTSW	15	55,440,932 (GRCm39)	missense	probably damaging	0.98
R2924:Mtbp	UTSW	15	55,483,210 (GRCm39)	missense	probably benign	0.21
R2925:Mtbp	UTSW	15	55,483,210 (GRCm39)	missense	probably benign	0.21
R4164:Mtbp	UTSW	15	55,472,917 (GRCm39)	missense	probably benign
R4232:Mtbp	UTSW	15	55,484,073 (GRCm39)	nonsense	probably null
R4255:Mtbp	UTSW	15	55,484,081 (GRCm39)	missense	possibly damaging	0.66
R4438:Mtbp	UTSW	15	55,466,611 (GRCm39)	missense	probably benign	0.41
R5009:Mtbp	UTSW	15	55,466,583 (GRCm39)	missense	probably benign
R5132:Mtbp	UTSW	15	55,421,965 (GRCm39)	missense	possibly damaging	0.92
R5685:Mtbp	UTSW	15	55,426,168 (GRCm39)	missense	probably damaging	1.00
R5933:Mtbp	UTSW	15	55,434,723 (GRCm39)	missense	possibly damaging	0.92
R6377:Mtbp	UTSW	15	55,421,016 (GRCm39)	start codon destroyed	probably null	0.32
R6554:Mtbp	UTSW	15	55,430,645 (GRCm39)	missense	probably damaging	0.99
R6811:Mtbp	UTSW	15	55,469,942 (GRCm39)	splice site	probably null
R6942:Mtbp	UTSW	15	55,430,596 (GRCm39)	missense	probably damaging	0.99
R7134:Mtbp	UTSW	15	55,421,961 (GRCm39)	missense	probably benign	0.00
R7374:Mtbp	UTSW	15	55,426,355 (GRCm39)	missense	possibly damaging	0.95
R7397:Mtbp	UTSW	15	55,432,547 (GRCm39)	missense	probably benign	0.06
R7520:Mtbp	UTSW	15	55,440,742 (GRCm39)	intron	probably benign
R7655:Mtbp	UTSW	15	55,472,922 (GRCm39)	missense	unknown
R7656:Mtbp	UTSW	15	55,472,922 (GRCm39)	missense	unknown
R8472:Mtbp	UTSW	15	55,449,748 (GRCm39)	missense	probably damaging	0.99
R9215:Mtbp	UTSW	15	55,484,035 (GRCm39)	missense	possibly damaging	0.92
R9786:Mtbp	UTSW	15	55,481,032 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACCTCATGTAGGGAAAGAAGTCAGAT -3'
(R):5'- GTACGCAACACTAATCAAACTTAGCGG -3'

Sequencing Primer
(F):5'- CCCTTTTCATTTCAGGGAAAAGCC -3'
(R):5'- GTTCATCTACTCGTTTCTAAGCAAG -3'

Posted On

2013-04-24