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

p67MBP, p160MBP

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72332181-72342594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72338392 bp (GRCm39)

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: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	Het

Other mutations in Mybbp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Mybbp1a	APN	11	72,334,393 (GRCm39)	missense	probably damaging	1.00
IGL03240:Mybbp1a	APN	11	72,336,492 (GRCm39)	missense	possibly damaging	0.95
IGL03271:Mybbp1a	APN	11	72,334,744 (GRCm39)	splice site	probably benign
IGL03344:Mybbp1a	APN	11	72,336,028 (GRCm39)	missense	probably damaging	1.00
fratelli	UTSW	11	72,336,538 (GRCm39)	missense	probably benign	0.02
primi	UTSW	11	72,333,727 (GRCm39)	splice site	probably null
sorelli	UTSW	11	72,338,585 (GRCm39)	missense	possibly damaging	0.94
R0276:Mybbp1a	UTSW	11	72,340,933 (GRCm39)	splice site	probably null
R0437:Mybbp1a	UTSW	11	72,339,674 (GRCm39)	missense	possibly damaging	0.75
R0551:Mybbp1a	UTSW	11	72,339,202 (GRCm39)	missense	probably benign	0.06
R1394:Mybbp1a	UTSW	11	72,334,474 (GRCm39)	missense	probably damaging	1.00
R1667:Mybbp1a	UTSW	11	72,336,043 (GRCm39)	missense	probably benign	0.00
R1888:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1888:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1891:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R1894:Mybbp1a	UTSW	11	72,336,863 (GRCm39)	missense	probably benign	0.18
R2074:Mybbp1a	UTSW	11	72,332,271 (GRCm39)	missense	probably benign	0.01
R2257:Mybbp1a	UTSW	11	72,337,021 (GRCm39)	missense	probably benign	0.10
R3739:Mybbp1a	UTSW	11	72,339,563 (GRCm39)	missense	possibly damaging	0.77
R3983:Mybbp1a	UTSW	11	72,337,996 (GRCm39)	missense	probably damaging	1.00
R4191:Mybbp1a	UTSW	11	72,342,113 (GRCm39)	missense	probably damaging	0.97
R4660:Mybbp1a	UTSW	11	72,336,538 (GRCm39)	missense	probably benign	0.02
R4667:Mybbp1a	UTSW	11	72,338,797 (GRCm39)	missense	possibly damaging	0.94
R4769:Mybbp1a	UTSW	11	72,336,466 (GRCm39)	missense	probably damaging	1.00
R4982:Mybbp1a	UTSW	11	72,336,040 (GRCm39)	missense	probably damaging	0.99
R5451:Mybbp1a	UTSW	11	72,338,939 (GRCm39)	missense	probably damaging	0.99
R5514:Mybbp1a	UTSW	11	72,341,462 (GRCm39)	missense	possibly damaging	0.61
R5548:Mybbp1a	UTSW	11	72,336,998 (GRCm39)	missense	probably damaging	1.00
R5673:Mybbp1a	UTSW	11	72,335,751 (GRCm39)	missense	probably benign	0.30
R5947:Mybbp1a	UTSW	11	72,333,257 (GRCm39)	missense	probably damaging	1.00
R6161:Mybbp1a	UTSW	11	72,336,838 (GRCm39)	missense	probably damaging	1.00
R7154:Mybbp1a	UTSW	11	72,338,468 (GRCm39)	splice site	probably null
R7227:Mybbp1a	UTSW	11	72,338,585 (GRCm39)	missense	possibly damaging	0.94
R7238:Mybbp1a	UTSW	11	72,334,338 (GRCm39)	missense	probably damaging	1.00
R7441:Mybbp1a	UTSW	11	72,342,101 (GRCm39)	missense	probably benign	0.01
R7833:Mybbp1a	UTSW	11	72,333,727 (GRCm39)	splice site	probably null
R8213:Mybbp1a	UTSW	11	72,335,547 (GRCm39)	missense	probably damaging	1.00
R8324:Mybbp1a	UTSW	11	72,336,114 (GRCm39)	critical splice donor site	probably null
R8474:Mybbp1a	UTSW	11	72,338,563 (GRCm39)	missense	probably benign	0.01
R8972:Mybbp1a	UTSW	11	72,337,076 (GRCm39)	missense	probably benign	0.35
R9018:Mybbp1a	UTSW	11	72,334,420 (GRCm39)	missense	probably benign	0.09
R9380:Mybbp1a	UTSW	11	72,333,668 (GRCm39)	missense	probably benign	0.24
R9505:Mybbp1a	UTSW	11	72,339,897 (GRCm39)	missense	probably benign	0.26
X0050:Mybbp1a	UTSW	11	72,332,503 (GRCm39)	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