Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Mybbp1a'

308193

Institutional Source

Beutler Lab

Gene Symbol

Mybbp1a

Ensembl Gene

ENSMUSG00000040463

Gene Name

MYB binding protein (P160) 1a

Synonyms

p160MBP, p67MBP

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72441355-72451768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72446037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 565 (T565I)

Ref Sequence

ENSEMBL: ENSMUSP00000044827 (fasta)

Gene Model

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

AlphaFold

Q7TPV4

Predicted Effect

probably benign
Transcript: ENSMUST00000045633
AA Change: T565I

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044827
Gene: ENSMUSG00000040463
AA Change: T565I

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: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (65/65)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,624,283	K845E	possibly damaging	Het
4930447C04Rik	A	G	12: 72,913,256	M80T	unknown	Het
4930578I06Rik	A	G	14: 63,986,183	L48P	probably damaging	Het
Abcc9	A	G	6: 142,679,314	S452P	probably benign	Het
Adgrb2	T	C	4: 130,013,626	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,427,005		probably null	Het
Adgrl4	A	G	3: 151,439,277	N21S	probably benign	Het
Adss	A	T	1: 177,784,951	Y77*	probably null	Het
Ahnak	A	T	19: 9,007,088	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,773,891	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,142,175	D2124V	possibly damaging	Het
Ankrd28	A	T	14: 31,732,025		probably benign	Het
Bbs12	C	A	3: 37,320,563	L387I	probably damaging	Het
BC023105	T	C	18: 60,442,499		noncoding transcript	Het
Cbwd1	A	T	19: 24,955,405	V88D	probably damaging	Het
Ciita	T	C	16: 10,511,084	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,669,645		probably benign	Het
Clec9a	G	A	6: 129,410,286	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,077	Q382L	possibly damaging	Het
Dock2	A	T	11: 34,707,342	I334N	probably damaging	Het
Dock9	G	T	14: 121,625,205	T833K	probably benign	Het
Drd2	G	A	9: 49,402,142	V204I	probably benign	Het
Fam120a	A	T	13: 48,885,866	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,771,789	E1025G	unknown	Het
Fsip2	G	A	2: 82,944,160	D64N	probably benign	Het
Gm12794	T	A	4: 101,941,138	V102E	probably damaging	Het
Gm14496	T	A	2: 182,000,196	C553*	probably null	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Homo
Gm15587	C	G	5: 24,367,469		probably benign	Het
Gm1966	A	T	7: 106,597,423		noncoding transcript	Het
Gm6020	C	T	19: 61,183,953	H22Y	possibly damaging	Het
Hexa	A	G	9: 59,557,303	T159A	probably benign	Het
Hmcn1	C	G	1: 150,819,500	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,138,233	F22S	probably damaging	Het
Il5ra	T	A	6: 106,731,913	N289Y	probably damaging	Het
Ilf2	T	C	3: 90,487,460		probably benign	Het
Irf2	A	T	8: 46,807,353	R107*	probably null	Het
Kcnk6	T	C	7: 29,225,650	I180M	probably benign	Het
Krtap5-3	G	A	7: 142,202,242		probably benign	Het
Lrig1	C	T	6: 94,654,878	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,498,761	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,481,351	V521A	probably benign	Het
Macf1	T	G	4: 123,455,042	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,474,712	E2085D	probably benign	Het
Maml1	C	T	11: 50,266,641	A236T	probably benign	Het
Mdc1	C	A	17: 35,854,225	T1481K	probably benign	Het
Mecp2	C	T	X: 74,037,175	A79T	probably damaging	Homo
Med24	A	G	11: 98,707,282		probably benign	Het
Mfap3l	T	C	8: 60,671,390	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,149,328	I554T	probably benign	Het
Mpped2	T	C	2: 106,699,445	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,106,528	T948K	probably damaging	Het
Mtus1	C	T	8: 41,084,325	S118N	probably damaging	Het
Mtx3	A	G	13: 92,847,683	E156G	probably benign	Het
Myh2	G	A	11: 67,180,850	V498M	probably damaging	Het
Myo15b	G	A	11: 115,887,073	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,760,403		probably null	Het
Ndufa2	T	A	18: 36,744,520		probably benign	Het
Nipal2	T	C	15: 34,625,021	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,834,062	N507S	possibly damaging	Het
Olfr1271	A	G	2: 90,265,569	L287P	probably damaging	Het
Olfr875	T	A	9: 37,772,867	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,487,385		probably null	Het
Pcyt2	A	G	11: 120,617,851	M1T	probably null	Het
Pear1	C	A	3: 87,810,575		probably benign	Het
Pla2g2d	T	C	4: 138,775,815	M1T	probably null	Het
Plekhg6	T	C	6: 125,363,343	T685A	probably damaging	Het
Pxk	T	C	14: 8,151,540	S452P	probably damaging	Het
Rab42	A	T	4: 132,303,218	D40E	probably benign	Het
Rapgef6	A	C	11: 54,660,828	T836P	probably damaging	Het
Rtn1	A	G	12: 72,236,533		probably benign	Het
Serpina3a	A	G	12: 104,116,103	D45G	probably benign	Het
Slco6b1	A	G	1: 96,922,061		noncoding transcript	Het
Smad9	CTTT	CTT	3: 54,789,179		probably benign	Het
Sntb1	T	A	15: 55,749,349	R278*	probably null	Het
Spice1	T	G	16: 44,365,626	S111A	probably damaging	Het
Stk40	T	A	4: 126,125,745	L90Q	probably damaging	Het
Syk	A	G	13: 52,640,790	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,813,398	V170M	possibly damaging	Het
Tcf12	A	T	9: 71,858,534	D541E	possibly damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tlr4	T	C	4: 66,841,172	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,863,499	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,709,045	I112T	probably benign	Het
Tmod1	C	T	4: 46,097,069		silent	Het
Trbc1	G	A	6: 41,535,636		probably benign	Het
Tril	A	G	6: 53,819,592	L215P	probably damaging	Het
Trim24	G	T	6: 37,957,078	R652L	probably damaging	Het
Ttn	G	A	2: 76,792,807	P15429S	probably damaging	Het
Ttn	T	A	2: 76,875,958		probably benign	Het
Tubgcp2	A	G	7: 139,999,270	V701A	probably damaging	Het
Tubgcp2	A	G	7: 140,006,156	F407L	probably damaging	Het
Usp45	T	C	4: 21,784,811		probably benign	Het
Vmn1r30	A	C	6: 58,435,490	L119R	possibly damaging	Het
Washc5	A	C	15: 59,359,325	L363R	probably damaging	Het
Zan	T	C	5: 137,389,328	T4874A	unknown	Het
Zfp420	A	T	7: 29,874,508	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,588,442	R497L	probably damaging	Het
Zmat4	A	G	8: 24,015,161	N139S	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
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
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'- GCTGTCTTGTGAAACCTCCC -3'
(R):5'- ATACCTTGAAGATGTGGAGGCC -3'

Sequencing Primer
(F):5'- GTGAAACCTCCCTCCCTCTTAC -3'
(R):5'- CCACCAGAAGCAGCAGGTG -3'

Posted On

2015-04-17