Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Mybbp1a'

352786

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72445712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 510 (V510A)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

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

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045633
AA Change: V510A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: V510A

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: ENSMUST00000134119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,142	T343A	probably damaging	Het
Angptl4	A	T	17: 33,777,275		probably benign	Het
Antxr2	A	T	5: 98,004,054		probably null	Het
Ap1b1	T	A	11: 5,016,760	V145E	probably damaging	Het
Armc4	A	G	18: 7,211,609	V755A	possibly damaging	Het
Asns	G	T	6: 7,678,012	N355K	probably benign	Het
Asxl3	A	G	18: 22,516,477	T508A	probably benign	Het
B4galt7	T	A	13: 55,604,298	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777	P415S	probably benign	Het
Bbs9	G	A	9: 22,578,767	R278Q	probably benign	Het
Blzf1	C	T	1: 164,306,493		probably benign	Het
Btd	A	T	14: 31,667,803	T494S	probably benign	Het
Casp9	C	T	4: 141,813,623	T434I	probably benign	Het
Cavin2	T	C	1: 51,301,351	S396P	probably benign	Het
Ccnk	C	T	12: 108,202,316		probably benign	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Clip1	G	A	5: 123,579,374	T1284I	probably damaging	Het
Coch	T	C	12: 51,595,485	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,537	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,195,342	R457K	probably benign	Het
Dalrd3	T	C	9: 108,570,369	S129P	probably benign	Het
Ddx10	A	G	9: 53,236,398		probably null	Het
Dnah7b	A	T	1: 46,289,536	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,431,880	T10A	probably benign	Het
Eif2s2	G	A	2: 154,888,269	T36I	probably benign	Het
Fam118b	A	T	9: 35,235,255	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,203,379	I250N	probably damaging	Het
Gm11544	C	T	11: 94,845,480		noncoding transcript	Het
Gm13084	A	G	4: 143,811,865	S179P	probably benign	Het
Gm13088	T	A	4: 143,654,277	Y392F	probably benign	Het
Gm5709	C	T	3: 59,618,703		noncoding transcript	Het
Golgb1	T	A	16: 36,887,618	I107N	probably damaging	Het
Gpld1	T	C	13: 24,982,603		probably null	Het
Grik1	T	A	16: 87,923,131	T768S	probably damaging	Het
H2-T23	T	G	17: 36,030,216	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,711		probably benign	Het
Iqgap3	T	G	3: 88,120,176	L702R	probably damaging	Het
Itga8	A	G	2: 12,265,258	V139A	probably damaging	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,617,790	I353V	probably benign	Het
Kif27	T	C	13: 58,323,916	E786G	probably damaging	Het
Lingo4	T	A	3: 94,403,365	S537T	probably benign	Het
Lipo3	C	T	19: 33,620,960		probably benign	Het
Lrrc3	G	T	10: 77,894,032		probably benign	Het
Ltbp3	T	A	19: 5,748,786		probably null	Het
Lyg1	T	A	1: 37,946,861		probably benign	Het
Mcm9	T	C	10: 53,548,527	I656V	probably benign	Het
Mfsd8	T	A	3: 40,821,937	I427F	probably benign	Het
Mga	T	A	2: 119,938,623		probably benign	Het
Miga1	A	G	3: 152,287,518	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536	I42V	probably benign	Het
Nccrp1	G	T	7: 28,546,335	P135T	probably damaging	Het
Neb	T	A	2: 52,255,588	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,552,668	I171N	probably damaging	Het
Olfr1419	T	C	19: 11,871,048	H56R	possibly damaging	Het
Olfr525	T	C	7: 140,323,412	F238L	possibly damaging	Het
Olfr536	A	T	7: 140,504,020	F146L	probably benign	Het
Otop1	T	G	5: 38,300,024	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,162,271	V10A	possibly damaging	Het
Pgs1	T	C	11: 118,019,677	V538A	probably damaging	Het
Ppa2	A	T	3: 133,326,684	T97S	probably damaging	Het
Prdm10	G	A	9: 31,327,328	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,680,895	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,257,298	R55C	probably damaging	Het
Ptpn9	A	T	9: 57,036,498	T105S	probably benign	Het
Rundc1	T	A	11: 101,434,004	V512E	possibly damaging	Het
Scrib	G	A	15: 76,065,336	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,750,286	S26G	probably null	Het
Sec61a2	A	G	2: 5,873,693		probably benign	Het
Sema3c	T	C	5: 17,672,513	V206A	probably damaging	Het
Sgk2	C	T	2: 162,997,843	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,861,341	T592I	probably damaging	Het
Slc5a11	T	C	7: 123,265,263	Y361H	probably damaging	Het
Smc6	T	C	12: 11,274,007	V51A	probably damaging	Het
Stab1	A	T	14: 31,154,915	N817K	possibly damaging	Het
Swt1	A	T	1: 151,407,597	D336E	probably benign	Het
Taf13	T	A	3: 108,572,977		probably benign	Het
Tmub2	T	C	11: 102,285,019		probably benign	Het
Tnf	A	G	17: 35,200,180	S209P	probably benign	Het
Try10	A	G	6: 41,357,827	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,477,788	Y183*	probably null	Het
Ttc17	A	T	2: 94,364,429	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,401,946	P305L	probably damaging	Het
Tulp3	G	A	6: 128,323,054		probably benign	Het
Usp9x	A	G	X: 13,123,508	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505	V453A	probably damaging	Het
Vmn2r103	A	T	17: 19,811,815	N617I	probably damaging	Het
Xirp1	G	T	9: 120,016,992	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,792,250	V731G	probably benign	Het
Zfp534	C	T	4: 147,674,718	G498D	probably benign	Het
Zfp639	T	C	3: 32,520,530	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,378,838	H443R	probably 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
R4191:Mybbp1a	UTSW	11	72451287	missense	probably damaging	0.97
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'- GGTCAAACTAGAGAAGTGGCCC -3'
(R):5'- CTGGTGTCTGCCTGAACTTC -3'

Sequencing Primer
(F):5'- CTAGAGAAGTGGCCCTTGCATG -3'
(R):5'- TTCACACTGAGCGTCTGCAGTAG -3'

Posted On

2015-10-08