Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Mybbp1a'

531636

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72447566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 694 (V694A)

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 benign
Transcript: ENSMUST00000045633
AA Change: V694A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: V694A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,953,467	V316A	probably benign	Het
Acad12	T	C	5: 121,609,845	Y170C	probably damaging	Het
Acss2	T	C	2: 155,560,685	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,522,004	I422V	probably damaging	Het
AI481877	T	C	4: 59,049,066	M1100V	probably benign	Het
Aldh18a1	A	G	19: 40,568,344	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,801,069	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,454,024		probably benign	Het
Coa4	G	A	7: 100,539,253	V58M	probably damaging	Het
Crybg1	T	C	10: 43,999,171	N647S	probably benign	Het
D3Ertd254e	T	A	3: 36,165,452	C541*	probably null	Het
Dync1h1	G	A	12: 110,629,679	G1547S	probably damaging	Het
Espnl	A	G	1: 91,322,221	D30G	probably benign	Het
Fasl	T	A	1: 161,781,835	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,092,689	E349G	probably damaging	Het
Gen1	A	G	12: 11,262,530	V13A	possibly damaging	Het
Gm4559	A	G	7: 142,274,108	C86R	unknown	Het
H2-M9	T	C	17: 36,642,233	N61D	probably damaging	Het
H6pd	C	T	4: 149,982,790	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,501,188		probably null	Het
Hnrnpd	C	A	5: 99,978,424	K67N	probably benign	Het
Hspg2	T	C	4: 137,508,398	S170P	probably damaging	Het
Igsf10	G	T	3: 59,319,244	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,912,615		probably null	Het
Katnb1	T	C	8: 95,095,642	Y298H	probably benign	Het
Kif21a	A	T	15: 90,935,730	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,850,193	C119*	probably null	Het
Lcn2	C	T	2: 32,387,027		probably null	Het
Lmf2	A	T	15: 89,352,033	S588T	probably benign	Het
Mboat7	A	G	7: 3,685,836	L231P	probably benign	Het
Mier2	T	C	10: 79,544,713	R288G	probably damaging	Het
Ndnf	C	A	6: 65,703,063	L109I	probably benign	Het
Nfkb1	C	A	3: 135,615,303	E230D	probably benign	Het
Nostrin	A	G	2: 69,183,927	K409R	probably benign	Het
Olfr1082	T	A	2: 86,594,421	M136L	probably damaging	Het
Olfr338	A	G	2: 36,376,842	Q22R	probably benign	Het
Olfr338	C	A	2: 36,376,951	Y58*	probably null	Het
Pdpr	C	A	8: 111,124,611	T534N	probably benign	Het
Plekhf1	G	A	7: 38,222,064	Q27*	probably null	Het
Ppp6c	A	T	2: 39,197,581	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,709,101		probably benign	Het
Prrg2	A	G	7: 45,060,225	F83L	probably damaging	Het
Rab11fip3	T	G	17: 25,991,718	D938A	probably damaging	Het
Rai1	A	G	11: 60,188,794	N1228S	probably benign	Het
Ryr1	G	T	7: 29,064,874	T3060K	probably benign	Het
Scube2	A	G	7: 109,810,617	I557T	probably benign	Het
Setdb1	C	A	3: 95,326,401	R1066L	probably benign	Het
Slc35f3	T	C	8: 126,394,459	V353A	probably benign	Het
Slfn3	A	T	11: 83,214,601	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,229,165	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,242,481	K223*	probably null	Het
Tex2	A	C	11: 106,533,950	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,370,485	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,377,233	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,430,907	L26P	probably damaging	Het
Trim80	T	C	11: 115,441,201	I73T	probably damaging	Het
Tssk4	T	A	14: 55,650,475	Y43N	probably damaging	Het
Ttn	T	C	2: 76,711,495	T25389A	probably damaging	Het
Ttn	A	T	2: 76,747,944	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,866,137	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,908,204	T697S	probably benign	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
R4191:Mybbp1a	UTSW	11	72451287	missense	probably damaging	0.97
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
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'- TCAAAGTGCTACATGCCGCC -3'
(R):5'- GGGTCCACATCTTTGTCACG -3'

Sequencing Primer
(F):5'- CATCCCCACAGGCCGTTC -3'
(R):5'- CATTATCTGAGTCTTCGTCCTATGGG -3'

Posted On

2018-08-29