Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00796:Myb'

12140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myb

Ensembl Gene

ENSMUSG00000019982

Gene Name

myeloblastosis oncogene

Synonyms

c-myb

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00796

Quality Score

Status

Chromosome

Chromosomal Location

21000834-21036883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 21017698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 631 (Q631P)

Ref Sequence

ENSEMBL: ENSMUSP00000139699 (fasta)

Gene Model

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

AlphaFold

P06876

Predicted Effect

probably benign
Transcript: ENSMUST00000020158
AA Change: Q512P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020158
Gene: ENSMUSG00000019982
AA Change: Q512P

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

noncoding transcript
Transcript: ENSMUST00000180680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186446

Predicted Effect

probably benign
Transcript: ENSMUST00000188495
AA Change: Q631P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139699
Gene: ENSMUSG00000019982
AA Change: Q631P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216985

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,742 (GRCm39)	T143A	probably benign	Het
Alk	T	A	17: 72,212,137 (GRCm39)	N802I	possibly damaging	Het
Aspn	A	G	13: 49,710,893 (GRCm39)	I179M	probably damaging	Het
Bptf	A	G	11: 106,945,376 (GRCm39)	L2506P	probably damaging	Het
Cacna1f	T	A	X: 7,497,270 (GRCm39)	D1594E	probably damaging	Het
Chd7	T	A	4: 8,847,271 (GRCm39)	N1671K	possibly damaging	Het
Dnah7b	T	C	1: 46,250,497 (GRCm39)	V1706A	probably damaging	Het
Elmo2	A	T	2: 165,133,934 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,291,959 (GRCm39)	S1108P	probably benign	Het
Fam53a	A	T	5: 33,758,171 (GRCm39)	D317E	probably benign	Het
Gria2	T	C	3: 80,618,097 (GRCm39)	N313D	probably benign	Het
Itch	A	T	2: 155,051,002 (GRCm39)	H563L	probably damaging	Het
Kdm1a	G	A	4: 136,281,558 (GRCm39)	A651V	probably damaging	Het
Myh9	A	T	15: 77,681,195 (GRCm39)		probably benign	Het
Nars2	C	A	7: 96,680,786 (GRCm39)	L319I	probably benign	Het
Nars2	T	A	7: 96,680,787 (GRCm39)	L319Q	probably benign	Het
Pdcl2	G	A	5: 76,467,022 (GRCm39)	T57I	probably damaging	Het
Pde6g	T	A	11: 120,341,390 (GRCm39)	I17L	probably benign	Het
Ppp1r9a	T	A	6: 5,157,014 (GRCm39)	M964K	probably benign	Het
Ssxb2	A	G	X: 8,324,459 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,509,349 (GRCm39)	T8A	probably benign	Het
Zdbf2	T	C	1: 63,346,364 (GRCm39)	M1581T	probably benign	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
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
R8829:Myb	UTSW	10	21,021,130 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2012-12-06