Mutagenetix > Incidental Mutation

Incidental Mutation 'R0488:Mybl2'

42396

Institutional Source

Beutler Lab

Gene Symbol

Mybl2

Ensembl Gene

ENSMUSG00000017861

Gene Name

myeloblastosis oncogene-like 2

Synonyms

Bmyb, B-Myb

MMRRC Submission

038687-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0488 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

162896607-162926608 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 162914534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018005] [ENSMUST00000142729]

AlphaFold

P48972

Predicted Effect

probably benign
Transcript: ENSMUST00000018005

SMART Domains

Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861

Domain	Start	End	E-Value	Type
SANT	30	79	1.38e-16	SMART
SANT	82	131	5.77e-19	SMART
SANT	134	182	2.12e-17	SMART
low complexity region	232	252	N/A	INTRINSIC
low complexity region	339	366	N/A	INTRINSIC
Pfam:Cmyb_C	454	610	6.4e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138414

Predicted Effect

probably benign
Transcript: ENSMUST00000142729

SMART Domains

Protein: ENSMUSP00000114710
Gene: ENSMUSG00000017861

Domain	Start	End	E-Value	Type
Pfam:Cmyb_C	16	71	1.9e-23	PFAM
Pfam:Cmyb_C	99	215	4e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184607

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos shortly after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	G	11: 46,029,757 (GRCm39)	L734R	probably damaging	Het
Adgrf1	T	C	17: 43,621,302 (GRCm39)	I513T	probably damaging	Het
Adgrl2	A	G	3: 148,552,541 (GRCm39)	V654A	probably damaging	Het
Agl	A	T	3: 116,548,611 (GRCm39)	Y1249*	probably null	Het
Ankar	T	A	1: 72,697,891 (GRCm39)	Q996H	probably damaging	Het
Aqp12	T	C	1: 92,936,378 (GRCm39)	Y235H	probably damaging	Het
Arsb	T	C	13: 94,077,013 (GRCm39)	V460A	probably benign	Het
Baiap3	A	G	17: 25,467,444 (GRCm39)		probably null	Het
Cd44	T	C	2: 102,664,564 (GRCm39)		probably benign	Het
Clec4b1	T	A	6: 123,048,441 (GRCm39)	I192N	probably damaging	Het
Cplane2	A	G	4: 140,941,712 (GRCm39)	D14G	probably benign	Het
Cps1	A	C	1: 67,187,967 (GRCm39)		probably benign	Het
Dab2	T	C	15: 6,454,135 (GRCm39)	L215S	probably damaging	Het
E2f4	G	A	8: 106,025,171 (GRCm39)	V84I	probably damaging	Het
Edem2	T	C	2: 155,558,043 (GRCm39)	T197A	probably damaging	Het
Eno2	T	A	6: 124,740,837 (GRCm39)	M121L	probably benign	Het
Ephb1	A	G	9: 101,841,207 (GRCm39)	V757A	probably damaging	Het
Etv5	T	A	16: 22,231,695 (GRCm39)	I106F	probably damaging	Het
Foxj3	T	A	4: 119,477,187 (GRCm39)	Y298*	probably null	Het
Gm12185	A	G	11: 48,798,666 (GRCm39)	L609S	probably damaging	Het
Gm5884	T	C	6: 128,623,031 (GRCm39)		noncoding transcript	Het
Havcr1	A	G	11: 46,643,398 (GRCm39)	Y106C	probably damaging	Het
Jmjd1c	A	G	10: 67,076,506 (GRCm39)	N2110S	probably damaging	Het
Kif2b	T	C	11: 91,467,798 (GRCm39)	K162E	probably benign	Het
Micu2	T	C	14: 58,169,699 (GRCm39)	Y217C	probably benign	Het
Mink1	G	T	11: 70,488,030 (GRCm39)	G32C	probably damaging	Het
Mnat1	T	A	12: 73,217,413 (GRCm39)	N96K	probably damaging	Het
Mpp2	G	T	11: 101,952,427 (GRCm39)	R349S	possibly damaging	Het
Mrpl13	T	A	15: 55,402,544 (GRCm39)	I59F	probably benign	Het
Otogl	T	C	10: 107,639,466 (GRCm39)	E1382G	probably benign	Het
Pclo	A	G	5: 14,719,313 (GRCm39)	E1150G	unknown	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Pla2g4a	G	A	1: 149,747,196 (GRCm39)	T322M	probably damaging	Het
Pramel11	A	T	4: 143,621,973 (GRCm39)	Y461N	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptprg	A	T	14: 12,220,653 (GRCm38)	D455V	probably damaging	Het
Ptprt	T	C	2: 161,395,745 (GRCm39)	T1162A	probably damaging	Het
Rad51ap1	T	C	6: 126,911,723 (GRCm39)	N55D	possibly damaging	Het
Rc3h2	T	C	2: 37,279,600 (GRCm39)	E543G	probably damaging	Het
Rimklb	G	A	6: 122,437,934 (GRCm39)	T103I	probably benign	Het
Samd4b	T	C	7: 28,113,662 (GRCm39)	Y101C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tubgcp5	T	A	7: 55,479,086 (GRCm39)	S979T	probably damaging	Het
Vmn2r93	G	A	17: 18,546,311 (GRCm39)	E728K	probably damaging	Het
Wdr17	T	C	8: 55,146,087 (GRCm39)		probably benign	Het
Wdr90	T	C	17: 26,067,591 (GRCm39)	Y1457C	probably damaging	Het
Wsb1	T	C	11: 79,135,326 (GRCm39)	D225G	probably damaging	Het
Xirp2	T	C	2: 67,345,165 (GRCm39)	S2469P	possibly damaging	Het
Zeb1	T	A	18: 5,772,455 (GRCm39)	C915S	probably damaging	Het
Znfx1	C	A	2: 166,884,483 (GRCm39)	R923L	possibly damaging	Het

Other mutations in Mybl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02331:Mybl2	APN	2	162,916,605 (GRCm39)	missense	probably damaging	1.00
IGL03112:Mybl2	APN	2	162,904,456 (GRCm39)	missense	probably damaging	1.00
R0129:Mybl2	UTSW	2	162,901,411 (GRCm39)	splice site	probably benign
R0393:Mybl2	UTSW	2	162,903,528 (GRCm39)	splice site	probably benign
R0839:Mybl2	UTSW	2	162,917,688 (GRCm39)	missense	probably benign	0.00
R1268:Mybl2	UTSW	2	162,916,636 (GRCm39)	missense	probably benign	0.06
R1462:Mybl2	UTSW	2	162,914,628 (GRCm39)	missense	probably benign
R1462:Mybl2	UTSW	2	162,914,628 (GRCm39)	missense	probably benign
R1667:Mybl2	UTSW	2	162,917,616 (GRCm39)	missense	probably damaging	1.00
R1829:Mybl2	UTSW	2	162,901,503 (GRCm39)	missense	probably benign	0.41
R4793:Mybl2	UTSW	2	162,916,683 (GRCm39)	missense	probably damaging	1.00
R4953:Mybl2	UTSW	2	162,922,716 (GRCm39)	missense	probably damaging	1.00
R5738:Mybl2	UTSW	2	162,910,203 (GRCm39)	nonsense	probably null
R6524:Mybl2	UTSW	2	162,916,450 (GRCm39)	missense	possibly damaging	0.65
R6957:Mybl2	UTSW	2	162,914,728 (GRCm39)	missense	possibly damaging	0.86
R7223:Mybl2	UTSW	2	162,914,625 (GRCm39)	missense	probably benign	0.00
R7244:Mybl2	UTSW	2	162,924,605 (GRCm39)	missense	probably benign	0.10
R7376:Mybl2	UTSW	2	162,924,513 (GRCm39)	missense	possibly damaging	0.56
R7451:Mybl2	UTSW	2	162,914,626 (GRCm39)	missense	possibly damaging	0.86
R7623:Mybl2	UTSW	2	162,914,752 (GRCm39)	missense	probably damaging	1.00
R8463:Mybl2	UTSW	2	162,916,638 (GRCm39)	missense	probably damaging	0.99
R8865:Mybl2	UTSW	2	162,922,653 (GRCm39)	missense	probably benign	0.00
R8967:Mybl2	UTSW	2	162,914,806 (GRCm39)	missense	probably damaging	0.99
R9293:Mybl2	UTSW	2	162,910,135 (GRCm39)	missense	probably damaging	1.00
R9494:Mybl2	UTSW	2	162,917,843 (GRCm39)	missense	possibly damaging	0.87
R9614:Mybl2	UTSW	2	162,906,225 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCATCAGCCTCATTGGCCTC -3'
(R):5'- ACCTGCTGGGATCAACATACCGAC -3'

Sequencing Primer
(F):5'- gtccctgtgagttcctttga -3'
(R):5'- GAGAACTCCTGGTATTCACGC -3'

Posted On

2013-05-23