Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02400:Myc'

291870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myc

Ensembl Gene

ENSMUSG00000022346

Gene Name

myelocytomatosis oncogene

Synonyms

Niard, Myc2, bHLHe39, Nird, c-myc

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02400

Quality Score

Status

Chromosome

Chromosomal Location

61857240-61862223 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 61861760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022971] [ENSMUST00000159327] [ENSMUST00000159338] [ENSMUST00000160009] [ENSMUST00000161976] [ENSMUST00000167731] [ENSMUST00000188482] [ENSMUST00000191178]

AlphaFold

P01108

Predicted Effect

probably benign
Transcript: ENSMUST00000022971

SMART Domains

Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	16	360	7e-118	PFAM
HLH	375	427	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159327

SMART Domains

Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	345	1.4e-141	PFAM
HLH	360	412	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159338

Predicted Effect

probably benign
Transcript: ENSMUST00000160009

SMART Domains

Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	345	1.4e-141	PFAM
HLH	360	412	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161976

SMART Domains

Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	1	345	1.4e-141	PFAM
HLH	360	412	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167731

SMART Domains

Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	15	359	1.5e-141	PFAM
HLH	374	426	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188482

SMART Domains

Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	16	360	1.5e-141	PFAM
HLH	375	427	2.3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191178

SMART Domains

Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346

Domain	Start	End	E-Value	Type
Pfam:Myc_N	15	359	1.9e-141	PFAM
HLH	374	426	2.3e-14	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a multifunctional, nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. It functions as a transcription factor that regulates transcription of specific target genes. Mutations, overexpression, rearrangement and translocation of this gene have been associated with a variety of hematopoietic tumors, leukemias and lymphomas, including Burkitt lymphoma, in human. There is evidence to show that alternative translation initiations from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site result in the production of two isoforms with distinct N-termini, in human and mouse. Under conditions of stress, such as high cell densities and methionine deprivation, there is a specific and dramatic increase in the synthesis of the non-AUG initiated protein, suggesting its importance in times of adversity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mutations affect growth and development of heart, pericardium, neural tube, vasculogenesis and erythropoeisis. Homozygous null mutants die by embryonic day 10.5. Heterozygotes have reduced body size and multiorgan hypoplasia; females have small litters. [provided by MGI curators]

Allele List at MGI

All alleles(23) : Targeted(19) Gene trapped(4)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,290,644 (GRCm39)	I128V	possibly damaging	Het
Arfgef3	G	T	10: 18,522,005 (GRCm39)	Q674K	probably damaging	Het
Atp6v0a2	T	A	5: 124,798,849 (GRCm39)	N851K	probably benign	Het
Chrna7	A	G	7: 62,749,070 (GRCm39)	C471R	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Egflam	T	A	15: 7,276,534 (GRCm39)	K544M	probably benign	Het
Erbb3	A	C	10: 128,415,393 (GRCm39)	N385K	probably benign	Het
Fancm	A	G	12: 65,160,589 (GRCm39)	R1388G	probably damaging	Het
Gm10720	C	A	9: 3,016,900 (GRCm39)		probably null	Het
Gm20489	A	T	X: 100,306,944 (GRCm39)	N328K	possibly damaging	Het
Gm5828	G	T	1: 16,840,042 (GRCm39)		noncoding transcript	Het
Gnaq	T	C	19: 16,293,492 (GRCm39)	Y145H	probably damaging	Het
Itgbl1	A	G	14: 124,083,938 (GRCm39)	D148G	probably damaging	Het
Or10d5	A	G	9: 39,861,635 (GRCm39)	V144A	probably benign	Het
Or5m3b	A	T	2: 85,872,420 (GRCm39)	I254F	probably benign	Het
Or6c211	A	G	10: 129,505,752 (GRCm39)	V212A	probably damaging	Het
Padi3	T	G	4: 140,516,179 (GRCm39)	K567T	probably benign	Het
Pi4ka	T	C	16: 17,111,748 (GRCm39)	T1576A	probably damaging	Het
Pikfyve	A	G	1: 65,291,728 (GRCm39)	R1316G	probably damaging	Het
Ryr2	A	G	13: 11,620,130 (GRCm39)		probably benign	Het
Sash1	G	A	10: 8,609,411 (GRCm39)	R713*	probably null	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tnfsf4	T	A	1: 161,223,276 (GRCm39)	C42S	possibly damaging	Het
Tpp1	A	G	7: 105,396,238 (GRCm39)	I487T	possibly damaging	Het
Trim43a	T	A	9: 88,464,165 (GRCm39)	N25K	probably benign	Het
Tuft1	T	C	3: 94,542,809 (GRCm39)		probably benign	Het
Usp46	T	C	5: 74,197,713 (GRCm39)	H26R	probably benign	Het
Zfp560	A	T	9: 20,261,896 (GRCm39)	I85N	possibly damaging	Het

Other mutations in Myc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Myc	APN	15	61,861,669 (GRCm39)	missense	probably benign	0.03
IGL02372:Myc	APN	15	61,859,707 (GRCm39)	missense	probably damaging	1.00
IGL02677:Myc	APN	15	61,861,513 (GRCm39)	missense	probably damaging	1.00
IGL02834:Myc	APN	15	61,859,515 (GRCm39)	missense	probably damaging	1.00
IGL03330:Myc	APN	15	61,859,998 (GRCm39)	missense	probably benign
PIT1430001:Myc	UTSW	15	61,859,542 (GRCm39)	missense	probably damaging	1.00
R1245:Myc	UTSW	15	61,859,746 (GRCm39)	missense	probably damaging	0.96
R2105:Myc	UTSW	15	61,859,951 (GRCm39)	missense	probably damaging	1.00
R4373:Myc	UTSW	15	61,861,513 (GRCm39)	missense	probably damaging	0.99
R6774:Myc	UTSW	15	61,860,128 (GRCm39)	critical splice donor site	probably null
R6813:Myc	UTSW	15	61,860,001 (GRCm39)	missense	probably damaging	1.00
R7371:Myc	UTSW	15	61,860,031 (GRCm39)	missense	probably damaging	0.97
R8376:Myc	UTSW	15	61,859,395 (GRCm39)	missense	possibly damaging	0.94
R9729:Myc	UTSW	15	61,859,935 (GRCm39)	missense	probably damaging	0.99
RF020:Myc	UTSW	15	61,857,672 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16