Mutagenetix > Incidental Mutation

Incidental Mutation 'R4191:Mybbp1a'

318325

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

MMRRC Submission

041022-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72451287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1283 (E1283G)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045303] [ENSMUST00000045633]

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045303

SMART Domains

Protein: ENSMUSP00000044418
Gene: ENSMUSG00000040447

Domain	Start	End	E-Value	Type
low complexity region	5	53	N/A	INTRINSIC
Pfam:Sugar_tr	104	308	7.6e-16	PFAM
Pfam:OATP	106	427	7.2e-13	PFAM
Pfam:MFS_1	108	476	2.7e-37	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045633
AA Change: E1283G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: E1283G

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:DNA_pol_phi	70	835	1.2e-194	PFAM
low complexity region	839	852	N/A	INTRINSIC
low complexity region	1080	1090	N/A	INTRINSIC
low complexity region	1109	1122	N/A	INTRINSIC
low complexity region	1259	1269	N/A	INTRINSIC
low complexity region	1314	1329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144923

Predicted Effect

probably benign
Transcript: ENSMUST00000144940

SMART Domains

Protein: ENSMUSP00000120722
Gene: ENSMUSG00000040447

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Meta Mutation Damage Score

0.1041

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality before blastocyst formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	C	T	17: 47,436,637	R61H	probably damaging	Het
Abcc1	A	G	16: 14,389,864	T22A	probably damaging	Het
Ache	A	T	5: 137,291,072	I347F	probably damaging	Het
Adgrl1	C	G	8: 83,938,940	R1464G	probably benign	Het
Cdh11	T	C	8: 102,650,748	D422G	probably damaging	Het
Cdx1	C	T	18: 61,020,438	S176N	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Cyct	G	T	2: 76,354,191	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,011,348	L256Q	probably damaging	Het
Disp1	G	T	1: 183,089,173	A561E	probably damaging	Het
Donson	C	A	16: 91,688,592	A41S	possibly damaging	Het
Gldc	T	C	19: 30,145,658	E279G	probably damaging	Het
Gpr160	A	T	3: 30,896,714	I312F	possibly damaging	Het
H2-Eb2	G	A	17: 34,344,555		probably benign	Het
Igdcc4	A	G	9: 65,124,151	Q457R	probably benign	Het
Irf2bp2	T	C	8: 126,593,345	D31G	probably damaging	Het
Klrb1	T	A	6: 128,713,634	K42*	probably null	Het
Lrrfip1	A	T	1: 91,110,399	E446D	probably benign	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,689,969	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,981,119	S245G	probably benign	Het
Myh2	A	G	11: 67,177,400	S285G	possibly damaging	Het
Myh7b	A	G	2: 155,633,399	D1876G	probably benign	Het
Nr4a2	T	C	2: 57,112,379	S21G	probably damaging	Het
Olfr1049	C	A	2: 86,255,322	V124L	probably benign	Het
Olfr1384	T	A	11: 49,513,812	M58K	probably damaging	Het
Olfr251	T	A	9: 38,378,352	M157K	probably damaging	Het
Olfr843	A	G	9: 19,249,087	V104A	probably benign	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Pcsk6	T	C	7: 66,025,308	S476P	probably damaging	Het
Pex10	T	C	4: 155,067,905		probably null	Het
Pgf	T	C	12: 85,171,787	D63G	probably benign	Het
Piwil4	A	G	9: 14,715,000	S465P	probably damaging	Het
Plcb1	A	C	2: 135,345,090	H759P	probably damaging	Het
Pmfbp1	A	T	8: 109,527,628	M432L	probably benign	Het
Prodh	C	T	16: 18,073,640	V480I	probably benign	Het
Rmnd1	A	T	10: 4,410,809		probably benign	Het
Senp2	G	T	16: 22,046,667	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,839,013	I1274V	probably damaging	Het
Tep1	T	C	14: 50,836,806	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 116,109,941	T298A	probably damaging	Het
Tlk1	G	A	2: 70,725,547	R423C	probably damaging	Het
Trove2	T	C	1: 143,770,786	I74V	probably benign	Het
Trp53rkb	T	C	2: 166,795,475	I117T	probably damaging	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Zfp112	A	G	7: 24,126,143	D512G	probably benign	Het
Zfyve19	A	G	2: 119,210,831	K76R	possibly damaging	Het

Other mutations in Mybbp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Mybbp1a	APN	11	72443567	missense	probably damaging	1.00
IGL03240:Mybbp1a	APN	11	72445666	missense	possibly damaging	0.95
IGL03271:Mybbp1a	APN	11	72443918	splice site	probably benign
IGL03344:Mybbp1a	APN	11	72445202	missense	probably damaging	1.00
fratelli	UTSW	11	72445712	missense	probably benign	0.02
primi	UTSW	11	72442901	splice site	probably null
sorelli	UTSW	11	72447759	missense	possibly damaging	0.94
R0276:Mybbp1a	UTSW	11	72450107	splice site	probably null
R0437:Mybbp1a	UTSW	11	72448848	missense	possibly damaging	0.75
R0551:Mybbp1a	UTSW	11	72448376	missense	probably benign	0.06
R1394:Mybbp1a	UTSW	11	72443648	missense	probably damaging	1.00
R1667:Mybbp1a	UTSW	11	72445217	missense	probably benign	0.00
R1888:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1888:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1891:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R1894:Mybbp1a	UTSW	11	72446037	missense	probably benign	0.18
R2074:Mybbp1a	UTSW	11	72441445	missense	probably benign	0.01
R2257:Mybbp1a	UTSW	11	72446195	missense	probably benign	0.10
R3739:Mybbp1a	UTSW	11	72448737	missense	possibly damaging	0.77
R3983:Mybbp1a	UTSW	11	72447170	missense	probably damaging	1.00
R4660:Mybbp1a	UTSW	11	72445712	missense	probably benign	0.02
R4667:Mybbp1a	UTSW	11	72447971	missense	possibly damaging	0.94
R4769:Mybbp1a	UTSW	11	72445640	missense	probably damaging	1.00
R4982:Mybbp1a	UTSW	11	72445214	missense	probably damaging	0.99
R5451:Mybbp1a	UTSW	11	72448113	missense	probably damaging	0.99
R5514:Mybbp1a	UTSW	11	72450636	missense	possibly damaging	0.61
R5548:Mybbp1a	UTSW	11	72446172	missense	probably damaging	1.00
R5673:Mybbp1a	UTSW	11	72444925	missense	probably benign	0.30
R5947:Mybbp1a	UTSW	11	72442431	missense	probably damaging	1.00
R6161:Mybbp1a	UTSW	11	72446012	missense	probably damaging	1.00
R6785:Mybbp1a	UTSW	11	72447566	missense	probably benign	0.00
R7154:Mybbp1a	UTSW	11	72447642	splice site	probably null
R7227:Mybbp1a	UTSW	11	72447759	missense	possibly damaging	0.94
R7238:Mybbp1a	UTSW	11	72443512	missense	probably damaging	1.00
R7441:Mybbp1a	UTSW	11	72451275	missense	probably benign	0.01
R7833:Mybbp1a	UTSW	11	72442901	splice site	probably null
R8213:Mybbp1a	UTSW	11	72444721	missense	probably damaging	1.00
R8324:Mybbp1a	UTSW	11	72445288	critical splice donor site	probably null
R8474:Mybbp1a	UTSW	11	72447737	missense	probably benign	0.01
R8972:Mybbp1a	UTSW	11	72446250	missense	probably benign	0.35
R9018:Mybbp1a	UTSW	11	72443594	missense	probably benign	0.09
R9380:Mybbp1a	UTSW	11	72442842	missense	probably benign	0.24
R9505:Mybbp1a	UTSW	11	72449071	missense	probably benign	0.26
X0050:Mybbp1a	UTSW	11	72441677	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCTGCCACTGGTAAAGAC -3'
(R):5'- ACTCAAGGTGTCTGCACTC -3'

Sequencing Primer
(F):5'- CCCAGCACAGGCAAGAAG -3'
(R):5'- AAGGTGTCTGCACTCTCCTG -3'

Posted On

2015-06-10