Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Mtbp'

66285

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

038480-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0242 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

55420804-55489819 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55440882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 356 (N356K)

Ref Sequence

ENSEMBL: ENSMUSP00000129396 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022998
AA Change: N356K

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: N356K

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

possibly damaging
Transcript: ENSMUST00000170046
AA Change: N356K

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: N356K

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

0.1795

Coding Region Coverage

1x: 98.7%
3x: 97.2%
10x: 90.8%
20x: 69.4%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,601,676 (GRCm39)	D230G	probably benign	Het
Abhd13	A	G	8: 10,037,561 (GRCm39)	I53V	probably benign	Het
Adgrl2	A	C	3: 148,544,821 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,794,088 (GRCm39)	A596V	probably damaging	Het
Aldh3b2	T	A	19: 4,029,414 (GRCm39)	Y262*	probably null	Het
Ambn	A	G	5: 88,615,831 (GRCm39)	Q420R	possibly damaging	Het
Arhgap9	C	A	10: 127,165,407 (GRCm39)	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,019,933 (GRCm39)	G435E	probably damaging	Het
Armc12	A	T	17: 28,751,366 (GRCm39)	D120V	possibly damaging	Het
Asxl3	G	A	18: 22,649,738 (GRCm39)	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,776 (GRCm39)	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,546,437 (GRCm39)	T483M	probably damaging	Het
Caprin2	C	T	6: 148,744,452 (GRCm39)	S991N	probably damaging	Het
Cd96	T	C	16: 45,892,129 (GRCm39)	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,009,237 (GRCm39)	F480L	probably benign	Het
Celf5	T	C	10: 81,300,243 (GRCm39)	T258A	probably benign	Het
Clca3b	A	G	3: 144,547,226 (GRCm39)	S304P	probably benign	Het
Cmya5	A	T	13: 93,232,108 (GRCm39)	H993Q	probably benign	Het
Cnbp	A	T	6: 87,822,746 (GRCm39)	C6S	probably damaging	Het
Col14a1	C	T	15: 55,360,907 (GRCm39)	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,941,817 (GRCm39)	N11S	probably benign	Het
Cpvl	T	C	6: 53,909,485 (GRCm39)	H217R	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,369 (GRCm39)	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,668,710 (GRCm39)	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,777,562 (GRCm39)	D268G	probably benign	Het
Dnm1	T	A	2: 32,207,001 (GRCm39)	M535L	possibly damaging	Het
Dock7	A	T	4: 98,850,517 (GRCm39)	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,326,275 (GRCm39)	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,616,285 (GRCm39)	D3112G	possibly damaging	Het
Eno3	A	G	11: 70,548,761 (GRCm39)	E21G	probably null	Het
Fam120b	T	A	17: 15,643,186 (GRCm39)	V655D	probably damaging	Het
Fkbp5	A	T	17: 28,647,426 (GRCm39)	D136E	probably benign	Het
Gfer	A	G	17: 24,913,277 (GRCm39)	W192R	probably damaging	Het
Golgb1	C	T	16: 36,695,992 (GRCm39)	Q164*	probably null	Het
Gpnmb	A	G	6: 49,024,276 (GRCm39)	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,310,802 (GRCm39)	T414M	probably benign	Het
Helz2	C	T	2: 180,872,223 (GRCm39)	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 93,988,160 (GRCm39)	I19F	probably benign	Het
Incenp	T	C	19: 9,871,114 (GRCm39)	T172A	unknown	Het
Jmy	A	G	13: 93,578,126 (GRCm39)	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,077,508 (GRCm39)	T36A	probably benign	Het
Kcnh4	T	C	11: 100,646,525 (GRCm39)	D267G	probably damaging	Het
Krt40	T	A	11: 99,429,568 (GRCm39)	E335D	probably damaging	Het
Krt86	T	A	15: 101,374,454 (GRCm39)	Y282*	probably null	Het
Lgi3	C	T	14: 70,772,255 (GRCm39)	R267*	probably null	Het
Lrp1b	T	A	2: 40,888,195 (GRCm39)	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,285,401 (GRCm39)	R542H	probably benign	Het
Mast4	G	A	13: 102,990,350 (GRCm39)	S57F	probably damaging	Het
Mia2	T	C	12: 59,155,642 (GRCm39)	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,561,738 (GRCm39)	R132Q	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myo5b	A	G	18: 74,794,787 (GRCm39)	H552R	possibly damaging	Het
Niban1	A	G	1: 151,593,967 (GRCm39)	D884G	probably benign	Het
Noxred1	A	G	12: 87,273,753 (GRCm39)	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933 (GRCm38)	D390V	possibly damaging	Het
Odad2	A	T	18: 7,211,516 (GRCm39)	V786D	probably damaging	Het
Or1r1	T	C	11: 73,874,538 (GRCm39)	S299G	probably benign	Het
Or6c1b	T	A	10: 129,273,217 (GRCm39)	Y179N	probably damaging	Het
Otog	G	T	7: 45,916,805 (GRCm39)	C914F	probably damaging	Het
Pank2	G	T	2: 131,122,117 (GRCm39)	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,399,788 (GRCm39)	S580T	probably benign	Het
Pdia3	T	C	2: 121,244,592 (GRCm39)	S2P	probably damaging	Het
Peli1	G	T	11: 21,092,602 (GRCm39)	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,441,935 (GRCm39)	C366*	probably null	Het
Pon3	T	A	6: 5,240,860 (GRCm39)	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,668,816 (GRCm39)	C532R	probably damaging	Het
Psd3	A	G	8: 68,210,738 (GRCm39)	M270T	probably damaging	Het
Pus1	A	T	5: 110,927,664 (GRCm39)	H30Q	probably benign	Het
Pwwp3a	T	C	10: 80,070,092 (GRCm39)	S354P	probably benign	Het
Rab7	A	T	6: 87,982,114 (GRCm39)	V87E	probably damaging	Het
Reln	A	G	5: 22,147,595 (GRCm39)		probably null	Het
S1pr3	A	G	13: 51,572,938 (GRCm39)	T40A	probably benign	Het
Senp7	T	A	16: 55,999,884 (GRCm39)	I853N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shroom1	T	G	11: 53,356,312 (GRCm39)		probably null	Het
Slc24a3	T	C	2: 145,448,584 (GRCm39)	I376T	probably benign	Het
Slc46a1	T	C	11: 78,359,493 (GRCm39)	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,666,733 (GRCm39)	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,674,286 (GRCm39)	I924N	probably damaging	Het
Slx4	T	A	16: 3,804,816 (GRCm39)	E666V	probably damaging	Het
Sorcs1	C	T	19: 50,216,659 (GRCm39)	G640E	probably damaging	Het
Spmap2l	G	T	5: 77,164,152 (GRCm39)	E52*	probably null	Het
Sptan1	A	T	2: 29,908,413 (GRCm39)	M1725L	probably benign	Het
Sync	G	A	4: 129,187,514 (GRCm39)	R182K	probably damaging	Het
Syne2	G	A	12: 76,144,808 (GRCm39)	G1586S	probably damaging	Het
Sytl1	G	T	4: 132,980,768 (GRCm39)	T522K	probably damaging	Het
Tex2	T	A	11: 106,410,781 (GRCm39)	K414*	probably null	Het
Thsd7a	G	A	6: 12,503,915 (GRCm39)	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,875,392 (GRCm39)	A451T	possibly damaging	Het
Ttn	A	T	2: 76,656,496 (GRCm39)		probably benign	Het
Uba2	T	C	7: 33,854,054 (GRCm39)	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,842,762 (GRCm39)	G361*	probably null	Het
Wbp2nl	C	T	15: 82,197,988 (GRCm39)	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,738,330 (GRCm39)	E212G	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
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
R0387:Mtbp	UTSW	15	55,474,425 (GRCm39)	missense	possibly damaging	0.82
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

Posted On

2013-08-19