Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Myb'

673694

Institutional Source

Beutler Lab

Gene Symbol

Myb

Ensembl Gene

ENSMUSG00000019982

Gene Name

myeloblastosis oncogene

Synonyms

c-myb

MMRRC Submission

068731-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21000834-21036883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21021130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 433 (L433H)

Ref Sequence

ENSEMBL: ENSMUSP00000139699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020158] [ENSMUST00000188495]

AlphaFold

P06876

Predicted Effect

probably benign
Transcript: ENSMUST00000020158

SMART Domains

Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
SANT	39	88	9.52e-20	SMART
SANT	91	140	2.04e-19	SMART
SANT	143	191	1.75e-18	SMART
low complexity region	227	239	N/A	INTRINSIC
Pfam:LMSTEN	267	313	4e-29	PFAM
Pfam:Cmyb_C	399	559	1.5e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188495
AA Change: L433H

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: L433H

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
SANT	39	88	9.52e-20	SMART
SANT	91	140	2.04e-19	SMART
SANT	143	191	1.75e-18	SMART
low complexity region	227	239	N/A	INTRINSIC
Pfam:LMSTEN	266	313	3.6e-32	PFAM
low complexity region	409	421	N/A	INTRINSIC
Pfam:Cmyb_C	516	682	8.5e-66	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for deficient alleles of this gene display severe hematopoietic abnormalities. Red and white blood cells and platelets are all affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	T	3: 59,939,240 (GRCm39)	I5F	probably benign	Het
Abca13	A	T	11: 9,571,881 (GRCm39)	D4814V	probably damaging	Het
Adgrl1	A	G	8: 84,665,458 (GRCm39)	N1382D		Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
B3galt9	T	A	2: 34,728,634 (GRCm39)	N144K	probably benign	Het
Bach2	A	T	4: 32,562,028 (GRCm39)	E165V	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Ccpg1	A	T	9: 72,917,633 (GRCm39)	D255V	probably benign	Het
Cdhr2	A	T	13: 54,865,930 (GRCm39)	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,042,920 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,717,582 (GRCm39)	D2216G	probably benign	Het
Cenpu	T	C	8: 47,026,496 (GRCm39)	L294P	probably damaging	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Ctnna2	G	A	6: 77,582,205 (GRCm39)	R352*	probably null	Het
D630003M21Rik	C	A	2: 158,058,856 (GRCm39)	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,294,051 (GRCm39)	Q236*	probably null	Het
Ddx60	T	G	8: 62,393,695 (GRCm39)	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Frem1	T	C	4: 82,918,431 (GRCm39)	R504G	probably damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Gprc6a	A	C	10: 51,491,295 (GRCm39)	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,574,179 (GRCm39)	Y118H	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Htr1d	A	T	4: 136,170,554 (GRCm39)	H261L	probably benign	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,459,534 (GRCm39)	V21A	probably benign	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Knstrn	C	T	2: 118,654,222 (GRCm39)	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,214,084 (GRCm39)	K22N	probably damaging	Het
Mpo	T	A	11: 87,694,250 (GRCm39)	F660Y	probably damaging	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Ncoa3	A	G	2: 165,892,068 (GRCm39)	Y148C	probably damaging	Het
Nktr	T	A	9: 121,583,330 (GRCm39)	S1432T	unknown	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or6x1	T	A	9: 40,099,209 (GRCm39)	F266Y	probably benign	Het
Or8d23	G	T	9: 38,842,190 (GRCm39)	C241F	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pcx	A	G	19: 4,651,968 (GRCm39)	D72G	probably damaging	Het
Pebp4	A	G	14: 70,285,916 (GRCm39)	D193G	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Piezo1	A	C	8: 123,217,753 (GRCm39)	M1265R		Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Ptger3	A	G	3: 157,273,423 (GRCm39)	T257A	probably damaging	Het
Relt	T	A	7: 100,499,479 (GRCm39)	S147C	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,313,961 (GRCm39)	D1919V	probably benign	Het
Septin8	G	A	11: 53,422,865 (GRCm39)	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,443,257 (GRCm39)	I19V	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Syne1	T	C	10: 5,058,685 (GRCm39)	E7276G	probably benign	Het
Syt1	C	A	10: 108,478,193 (GRCm39)	C77F	probably benign	Het
Tcf20	T	A	15: 82,739,915 (GRCm39)	K512M	probably damaging	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trank1	T	C	9: 111,176,591 (GRCm39)	S288P	probably benign	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Ttbk1	C	A	17: 46,757,821 (GRCm39)	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,192,344 (GRCm39)	Y418*	probably null	Het

Other mutations in Myb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Myb	APN	10	21,017,725 (GRCm39)	missense	probably damaging	0.99
IGL00707:Myb	APN	10	21,024,283 (GRCm39)	missense	probably damaging	1.00
IGL00796:Myb	APN	10	21,017,698 (GRCm39)	missense	probably benign	0.00
IGL01012:Myb	APN	10	21,022,159 (GRCm39)	missense	probably benign	0.03
IGL01082:Myb	APN	10	21,028,843 (GRCm39)	missense	probably damaging	1.00
IGL01365:Myb	APN	10	21,028,401 (GRCm39)	missense	probably benign	0.31
IGL01906:Myb	APN	10	21,028,533 (GRCm39)	missense	probably damaging	1.00
IGL02560:Myb	APN	10	21,028,347 (GRCm39)	missense	probably damaging	1.00
Huang_river	UTSW	10	21,028,516 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Myb	UTSW	10	21,028,521 (GRCm39)	missense	probably damaging	0.98
R0385:Myb	UTSW	10	21,030,611 (GRCm39)	missense	possibly damaging	0.73
R0442:Myb	UTSW	10	21,002,095 (GRCm39)	missense	probably benign	0.05
R0759:Myb	UTSW	10	21,020,927 (GRCm39)	missense	probably benign	0.01
R0882:Myb	UTSW	10	21,032,259 (GRCm39)	missense	possibly damaging	0.75
R0920:Myb	UTSW	10	21,002,133 (GRCm39)	missense	possibly damaging	0.80
R1401:Myb	UTSW	10	21,028,844 (GRCm39)	missense	probably damaging	1.00
R1651:Myb	UTSW	10	21,002,097 (GRCm39)	missense	probably damaging	1.00
R1752:Myb	UTSW	10	21,032,336 (GRCm39)	missense	possibly damaging	0.89
R1879:Myb	UTSW	10	21,017,876 (GRCm39)	missense	probably benign	0.24
R1971:Myb	UTSW	10	21,016,555 (GRCm39)	missense	probably benign	0.00
R4355:Myb	UTSW	10	21,028,516 (GRCm39)	missense	probably damaging	1.00
R4611:Myb	UTSW	10	21,021,223 (GRCm39)	missense	probably damaging	1.00
R4650:Myb	UTSW	10	21,028,840 (GRCm39)	missense	probably damaging	1.00
R4888:Myb	UTSW	10	21,002,137 (GRCm39)	missense	probably benign	0.01
R5121:Myb	UTSW	10	21,002,137 (GRCm39)	missense	probably benign	0.01
R5922:Myb	UTSW	10	21,028,826 (GRCm39)	missense	probably damaging	1.00
R5955:Myb	UTSW	10	21,028,398 (GRCm39)	missense	probably damaging	1.00
R6116:Myb	UTSW	10	21,030,653 (GRCm39)	missense	probably damaging	1.00
R6150:Myb	UTSW	10	21,017,668 (GRCm39)	missense	probably damaging	1.00
R6207:Myb	UTSW	10	21,021,221 (GRCm39)	missense	probably benign
R6656:Myb	UTSW	10	21,028,844 (GRCm39)	missense	probably damaging	1.00
R6801:Myb	UTSW	10	21,020,865 (GRCm39)	splice site	probably null
R6824:Myb	UTSW	10	21,021,019 (GRCm39)	missense	probably benign	0.00
R6884:Myb	UTSW	10	21,028,431 (GRCm39)	missense	probably damaging	1.00
R6977:Myb	UTSW	10	21,028,551 (GRCm39)	missense	probably damaging	0.96
R7562:Myb	UTSW	10	21,017,653 (GRCm39)	splice site	probably null
R7651:Myb	UTSW	10	21,032,273 (GRCm39)	missense	probably damaging	1.00
R7747:Myb	UTSW	10	21,032,324 (GRCm39)	missense	possibly damaging	0.89
R8346:Myb	UTSW	10	21,002,136 (GRCm39)	missense	probably benign	0.00
R8683:Myb	UTSW	10	21,026,405 (GRCm39)	missense	possibly damaging	0.53
R9227:Myb	UTSW	10	21,030,612 (GRCm39)	missense	probably benign	0.03
R9228:Myb	UTSW	10	21,030,612 (GRCm39)	missense	probably benign	0.03
R9240:Myb	UTSW	10	21,016,500 (GRCm39)	missense	probably damaging	1.00
R9304:Myb	UTSW	10	21,028,516 (GRCm39)	missense	probably damaging	1.00
R9408:Myb	UTSW	10	21,026,275 (GRCm39)	missense	probably benign	0.21
R9517:Myb	UTSW	10	21,030,612 (GRCm39)	missense	probably benign	0.03
R9576:Myb	UTSW	10	21,030,612 (GRCm39)	missense	probably benign	0.03
R9577:Myb	UTSW	10	21,030,612 (GRCm39)	missense	probably benign	0.03
R9610:Myb	UTSW	10	21,030,627 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAACGCTTGAGAGTTGAGC -3'
(R):5'- ATGCACCGCTGTAATCCCTG -3'

Sequencing Primer
(F):5'- AGAGTTGAGCTGATGACGTC -3'
(R):5'- CGCTGTAATCCCTGAGCTAGAAAG -3'

Posted On

2021-07-15