Mutagenetix > Incidental Mutation

Incidental Mutation 'R7376:Mybl2'

572369

Institutional Source

Beutler Lab

Gene Symbol

Mybl2

Ensembl Gene

ENSMUSG00000017861

Gene Name

myeloblastosis oncogene-like 2

Synonyms

Bmyb, B-Myb

MMRRC Submission

045459-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

162896607-162926608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162924513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 627 (G627D)

Ref Sequence

ENSEMBL: ENSMUSP00000018005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018005] [ENSMUST00000094653] [ENSMUST00000142729]

AlphaFold

P48972

PDB Structure

Solution Structure of RSGI RUH-050, a myb DNA-binding domain in mouse cDNA [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018005
AA Change: G627D

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000018005
Gene: ENSMUSG00000017861
AA Change: G627D

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

probably benign
Transcript: ENSMUST00000094653

SMART Domains

Protein: ENSMUSP00000092237
Gene: ENSMUSG00000070708

Domain	Start	End	E-Value	Type
Pfam:zf-U11-48K	6	30	2.6e-14	PFAM
Pfam:zf-U11-48K	40	63	1.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142729
AA Change: G228D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114710
Gene: ENSMUSG00000017861
AA Change: G228D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (60/61)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,118 (GRCm39)	I994V	probably benign	Het
Acan	T	G	7: 78,738,055 (GRCm39)		probably null	Het
Adamts12	G	A	15: 11,277,425 (GRCm39)	V680I	possibly damaging	Het
Adgrg7	T	C	16: 56,545,342 (GRCm39)	I712V	probably damaging	Het
Adgrl3	A	G	5: 81,942,597 (GRCm39)	H1477R	probably damaging	Het
Adgrv1	T	A	13: 81,666,245 (GRCm39)	D1937V	probably damaging	Het
Alms1	T	C	6: 85,599,088 (GRCm39)	S1305P	probably benign	Het
Banp	T	A	8: 122,701,236 (GRCm39)	M39K	probably damaging	Het
Bbs10	A	G	10: 111,135,111 (GRCm39)	T75A	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Bltp3b	G	A	10: 89,645,518 (GRCm39)	G1197D	probably damaging	Het
Brinp2	C	T	1: 158,078,938 (GRCm39)	C295Y	probably damaging	Het
Card11	C	T	5: 140,883,993 (GRCm39)	V429I	probably benign	Het
Cdca3	G	A	6: 124,809,538 (GRCm39)	R184H	probably benign	Het
Cep104	A	G	4: 154,067,509 (GRCm39)		probably null	Het
Clspn	A	G	4: 126,484,430 (GRCm39)	K1196R	possibly damaging	Het
Cntnap5b	A	G	1: 99,894,994 (GRCm39)	T89A	possibly damaging	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crat	T	A	2: 30,296,477 (GRCm39)	I330F	probably damaging	Het
Ctbp2	G	T	7: 132,615,697 (GRCm39)	Q413K	possibly damaging	Het
D630045J12Rik	T	C	6: 38,151,238 (GRCm39)	E1220G	probably damaging	Het
Dap	A	G	15: 31,235,985 (GRCm39)	D41G	probably damaging	Het
Dnah14	A	G	1: 181,590,967 (GRCm39)	I3287V	probably benign	Het
Dsp	A	G	13: 38,356,819 (GRCm39)	H233R	probably damaging	Het
Dst	T	C	1: 34,231,770 (GRCm39)	I3121T	probably benign	Het
Espnl	T	G	1: 91,250,036 (GRCm39)	L61R	probably damaging	Het
Evc2	T	C	5: 37,527,983 (GRCm39)	S331P	possibly damaging	Het
Gars1	A	G	6: 55,050,344 (GRCm39)	E535G	probably benign	Het
Hfm1	A	G	5: 107,043,084 (GRCm39)	I650T	possibly damaging	Het
Iyd	T	A	10: 3,495,690 (GRCm39)	I116N	probably damaging	Het
Kif16b	A	G	2: 142,553,792 (GRCm39)	L1002S	probably damaging	Het
Kifbp	C	T	10: 62,394,843 (GRCm39)	V600I	possibly damaging	Het
Lgi1	G	A	19: 38,272,468 (GRCm39)	G113D	probably damaging	Het
Lgi2	G	A	5: 52,695,604 (GRCm39)	R452C	probably damaging	Het
Man2b2	T	G	5: 36,970,722 (GRCm39)	N764T	probably damaging	Het
Mrps18b	A	G	17: 36,221,587 (GRCm39)	I246T	probably benign	Het
Muc5b	A	G	7: 141,426,287 (GRCm39)	T4795A	possibly damaging	Het
Ndufb8	C	T	19: 44,543,794 (GRCm39)	R16K	probably benign	Het
Or5k17	A	T	16: 58,746,121 (GRCm39)	V271E	possibly damaging	Het
P4htm	C	T	9: 108,457,991 (GRCm39)	V335M	probably damaging	Het
Pbx3	A	G	2: 34,094,889 (GRCm39)	I249T	probably damaging	Het
Plod3	G	T	5: 137,019,335 (GRCm39)	V360L	probably benign	Het
Podxl2	C	T	6: 88,826,632 (GRCm39)	D161N	probably benign	Het
Polr1b	G	T	2: 128,960,993 (GRCm39)	V651L	probably benign	Het
Prr14	T	C	7: 127,075,749 (GRCm39)	S586P	probably benign	Het
Pum3	C	T	19: 27,371,728 (GRCm39)	G575D	probably benign	Het
Rnf157	C	A	11: 116,251,192 (GRCm39)	A111S	probably benign	Het
Robo3	A	G	9: 37,344,212 (GRCm39)	L29P	probably damaging	Het
Smarca5	T	C	8: 81,452,680 (GRCm39)	N342S	probably damaging	Het
Specc1	T	A	11: 62,009,078 (GRCm39)	I198K	probably benign	Het
Tmem177	A	T	1: 119,837,744 (GRCm39)	*312R	probably null	Het
Tom1l2	A	T	11: 60,152,026 (GRCm39)	M172K	probably benign	Het
Tsc22d4	T	C	5: 137,756,414 (GRCm39)	V3A	unknown	Het
Vmn1r128	G	T	7: 21,083,668 (GRCm39)	G124V	probably damaging	Het
Vmn1r15	T	C	6: 57,235,342 (GRCm39)	I70T	probably benign	Het
Vmn2r60	A	G	7: 41,844,631 (GRCm39)	T665A	probably damaging	Het
Vmn2r83	T	C	10: 79,314,790 (GRCm39)	F346S	probably benign	Het
Wdr7	T	A	18: 63,910,691 (GRCm39)	D694E	probably 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
R0488:Mybl2	UTSW	2	162,914,534 (GRCm39)	unclassified	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
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'- TAGACTTCCGGATCATAAAGGGAC -3'
(R):5'- AGGAACTCACAAGTCAGGCC -3'

Sequencing Primer
(F):5'- TCATAAAGGGACCTGGGCCTTG -3'
(R):5'- TCACAAGTCAGGCCCTGGG -3'

Posted On

2019-09-13