Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Mtbp'

390392

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

042600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5009 (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 55466583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 532 (D532G)

Ref Sequence

ENSEMBL: ENSMUSP00000129396 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

probably benign
Transcript: ENSMUST00000022998
AA Change: D532G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: D532G

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: D159G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: D159G

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: D532G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: D532G

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	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
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
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'- TCCAGGTAGGCCTTGAACAC -3'
(R):5'- GGACATGCTACTCTACTGATTAGC -3'

Sequencing Primer
(F):5'- GTAGGCCTTGAACACATTATAAAGCC -3'
(R):5'- CATGCATTTCTACAAACTCAA -3'

Posted On

2016-06-06