Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00799:Mtbp'

12114

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtbp

Ensembl Gene

ENSMUSG00000022369

Gene Name

Mdm2, transformed 3T3 cell double minute p53 binding protein

Synonyms

MDM2BP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00799

Quality Score

Status

Chromosome

Chromosomal Location

55420804-55489819 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 55480904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 290 (L290*)

Ref Sequence

ENSEMBL: ENSMUSP00000128615 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

probably null
Transcript: ENSMUST00000022998
AA Change: L663*

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: L663*

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

noncoding transcript
Transcript: ENSMUST00000166449

Predicted Effect

probably null
Transcript: ENSMUST00000169667
AA Change: L290*

SMART Domains

Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: L290*

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

noncoding transcript
Transcript: ENSMUST00000171146

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 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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	A	T	4: 144,281,843 (GRCm39)	H316Q	probably benign	Het
Boc	G	T	16: 44,313,318 (GRCm39)	D515E	probably benign	Het
Cenpe	T	A	3: 134,934,678 (GRCm39)		probably null	Het
Ctcf	A	G	8: 106,403,968 (GRCm39)	D608G	unknown	Het
Dab2ip	A	G	2: 35,597,787 (GRCm39)	I99V	probably benign	Het
Ecpas	T	A	4: 58,828,047 (GRCm39)	I981F	possibly damaging	Het
Ehd2	C	T	7: 15,697,392 (GRCm39)	A139T	possibly damaging	Het
Fam151b	C	A	13: 92,614,361 (GRCm39)	K42N	probably damaging	Het
Gapvd1	A	T	2: 34,589,872 (GRCm39)	D1002E	probably benign	Het
Gusb	T	C	5: 130,028,222 (GRCm39)	Y290C	probably damaging	Het
Hoxd10	A	G	2: 74,522,786 (GRCm39)	S155G	probably benign	Het
Hp	A	G	8: 110,302,250 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,854,497 (GRCm39)	S112P	probably damaging	Het
Iqgap2	A	G	13: 95,794,452 (GRCm39)		probably benign	Het
Nr5a2	T	A	1: 136,818,536 (GRCm39)	D330V	probably damaging	Het
R3hdm1	T	A	1: 128,102,700 (GRCm39)	L157Q	probably damaging	Het
Rad21	A	T	15: 51,839,521 (GRCm39)	D116E	possibly damaging	Het
Slc23a3	A	T	1: 75,109,925 (GRCm39)	I114N	possibly damaging	Het
Syne1	A	G	10: 5,347,878 (GRCm38)	I1140L	probably benign	Het

Other mutations in Mtbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06