Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Mtbp'

190709

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

039745-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55420804-55489819 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 55434690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129396 (fasta)

Gene Model

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

AlphaFold

Q8BJS8

Predicted Effect

probably null
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 null
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: ENSMUST00000169517

Predicted Effect

probably null
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

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,678,448 (GRCm39)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,748,998 (GRCm39)	R283L	probably benign	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm39)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,415,427 (GRCm39)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,905,284 (GRCm39)	T1108M	probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cdc40	T	C	10: 40,717,372 (GRCm39)	K440E	probably damaging	Het
Cenpe	G	A	3: 134,971,694 (GRCm39)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,390,361 (GRCm39)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,898,172 (GRCm39)	L8F	probably benign	Het
Col17a1	T	C	19: 47,637,442 (GRCm39)		probably benign	Het
Coro6	A	T	11: 77,360,293 (GRCm39)	N421I	probably benign	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 65,832,826 (GRCm39)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,287,240 (GRCm39)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,308,769 (GRCm39)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,160,379 (GRCm39)	N117I	probably benign	Het
Dnajc3	A	G	14: 119,195,307 (GRCm39)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,390,403 (GRCm39)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,595,862 (GRCm39)	T58A	probably benign	Het
Gjd3	A	G	11: 102,691,706 (GRCm39)	I99T	possibly damaging	Het
Glce	T	C	9: 61,977,857 (GRCm39)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,641,704 (GRCm39)	T125A	possibly damaging	Het
Ifi27l2a	T	A	12: 103,406,202 (GRCm39)		probably null	Het
Jph1	C	T	1: 17,167,456 (GRCm39)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Klra9	A	T	6: 130,166,659 (GRCm39)		probably null	Het
Kmo	A	T	1: 175,484,289 (GRCm39)	M340L	probably benign	Het
Lama1	T	C	17: 68,024,181 (GRCm39)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,308,104 (GRCm39)		probably null	Het
Mgat5	C	A	1: 127,248,375 (GRCm39)	N92K	probably benign	Het
Mib2	T	A	4: 155,739,256 (GRCm39)	I908F	probably damaging	Het
Mical1	T	G	10: 41,356,359 (GRCm39)	L304R	probably damaging	Het
Myo3a	T	C	2: 22,455,004 (GRCm39)	Y70H	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,218,029 (GRCm39)	N378K	probably damaging	Het
Oog4	G	A	4: 143,166,484 (GRCm39)	L107F	probably damaging	Het
Or2g25	A	G	17: 37,970,799 (GRCm39)	S142P	probably benign	Het
Or4k40	T	A	2: 111,251,003 (GRCm39)	M98L	probably benign	Het
Or6x1	A	G	9: 40,099,161 (GRCm39)	Y250C	probably damaging	Het
Or8k20	T	A	2: 86,106,337 (GRCm39)	T165S	probably damaging	Het
Pfdn6	T	C	17: 34,158,528 (GRCm39)	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,107,971 (GRCm39)	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Rai1	A	G	11: 60,078,428 (GRCm39)	T831A	probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,105,171 (GRCm39)	I744L	probably benign	Het
Rora	T	A	9: 69,282,771 (GRCm39)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,873,967 (GRCm39)	S23T	probably damaging	Het
Ryr1	T	C	7: 28,746,928 (GRCm39)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,230,180 (GRCm39)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,236,373 (GRCm39)	G296C	probably benign	Het
Scn7a	T	C	2: 66,535,447 (GRCm39)	T435A	probably benign	Het
Shank2	G	T	7: 143,964,890 (GRCm39)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,802,770 (GRCm39)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,809,458 (GRCm39)	R346W	probably damaging	Het
Spata20	A	T	11: 94,371,340 (GRCm39)	C675S	probably benign	Het
Suclg2	A	T	6: 95,563,997 (GRCm39)	I196N	probably damaging	Het
Sv2b	G	A	7: 74,798,807 (GRCm39)	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm39)	I2386V	probably benign	Het
Taf13	A	T	3: 108,488,445 (GRCm39)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,790,606 (GRCm39)	T976A	probably benign	Het
Tax1bp1	A	G	6: 52,706,311 (GRCm39)	Y104C	probably damaging	Het
Tfeb	T	C	17: 48,099,911 (GRCm39)		probably null	Het
Tlr9	T	C	9: 106,101,248 (GRCm39)	Y180H	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,356,499 (GRCm39)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,339,895 (GRCm39)	E280G	probably damaging	Het
Urm1	T	C	2: 29,731,437 (GRCm39)	W44R	probably damaging	Het
Usp32	A	T	11: 84,933,406 (GRCm39)	I34N	probably benign	Het
Vars1	T	C	17: 35,233,728 (GRCm39)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,869,894 (GRCm39)	V206D	probably damaging	Het
Vim	T	C	2: 13,583,270 (GRCm39)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,498,997 (GRCm39)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,604,132 (GRCm39)	N770S	probably damaging	Het
Wdr33	T	A	18: 32,029,684 (GRCm39)	L961Q	unknown	Het
Xylt2	A	G	11: 94,559,575 (GRCm39)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zc3h6	T	C	2: 128,858,654 (GRCm39)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	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
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'- ATATATGCATTCATGGGAGGGTGGGA -3'
(R):5'- ACCGCATCAAGGAAGCAAGGTTCA -3'

Sequencing Primer
(F):5'- TGGGAGAAAGAAATGGGGTG -3'
(R):5'- AGGTTCAGGCAGCTCCATATC -3'

Posted On

2014-05-14