Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00155:Myc'

920

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 #

IGL00155

Quality Score

Status

Chromosome

Chromosomal Location

61857240-61862223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61861669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 425 (H425R)

Ref Sequence

ENSEMBL: ENSMUSP00000130285 (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
AA Change: H426R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022971
Gene: ENSMUSG00000022346
AA Change: H426R

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
AA Change: H411R

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

SMART Domains

Protein: ENSMUSP00000124758
Gene: ENSMUSG00000022346
AA Change: H411R

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
AA Change: H411R

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

SMART Domains

Protein: ENSMUSP00000123852
Gene: ENSMUSG00000022346
AA Change: H411R

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
AA Change: H411R

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

SMART Domains

Protein: ENSMUSP00000123821
Gene: ENSMUSG00000022346
AA Change: H411R

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
AA Change: H425R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130285
Gene: ENSMUSG00000022346
AA Change: H425R

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
AA Change: H426R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140183
Gene: ENSMUSG00000022346
AA Change: H426R

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
AA Change: H425R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141139
Gene: ENSMUSG00000022346
AA Change: H425R

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,235 (GRCm39)	F498S	probably damaging	Het
Arhgap11a	A	G	2: 113,664,601 (GRCm39)	S561P	probably benign	Het
Best3	T	C	10: 116,824,632 (GRCm39)	Y33H	probably damaging	Het
Cd209b	T	A	8: 3,969,945 (GRCm39)		probably benign	Het
Cep152	A	G	2: 125,405,808 (GRCm39)	S1575P	probably benign	Het
Crabp2	A	G	3: 87,859,506 (GRCm39)	Y52C	probably damaging	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Ctnna2	A	T	6: 76,957,744 (GRCm39)	W137R	probably damaging	Het
Cxcl9	T	A	5: 92,471,728 (GRCm39)	H104L	possibly damaging	Het
Ddr2	A	G	1: 169,811,996 (GRCm39)	I742T	possibly damaging	Het
Frem1	A	G	4: 82,877,626 (GRCm39)	V223A	possibly damaging	Het
Fzd10	T	A	5: 128,678,592 (GRCm39)	I104N	probably damaging	Het
Greb1	A	G	12: 16,761,962 (GRCm39)	S473P	probably damaging	Het
Gtf2i	T	C	5: 134,271,602 (GRCm39)	Y873C	probably damaging	Het
Igsf6	T	A	7: 120,669,876 (GRCm39)	K89*	probably null	Het
Ints3	A	G	3: 90,313,636 (GRCm39)	F331L	probably damaging	Het
Kcnh3	A	T	15: 99,140,354 (GRCm39)	H1080L	possibly damaging	Het
Mettl15	A	T	2: 108,923,521 (GRCm39)	Y300*	probably null	Het
Mms19	A	G	19: 41,936,672 (GRCm39)	F654L	probably benign	Het
Ntn1	G	T	11: 68,117,445 (GRCm39)		probably benign	Het
Ormdl2	C	A	10: 128,655,944 (GRCm39)	G69W	probably damaging	Het
Pdpr	T	C	8: 111,828,704 (GRCm39)	V69A	possibly damaging	Het
Rbbp6	T	C	7: 122,587,908 (GRCm39)	I254T	probably damaging	Het
Sema6d	A	G	2: 124,501,785 (GRCm39)	R543G	possibly damaging	Het
Slc18a1	C	T	8: 69,503,998 (GRCm39)	A314T	probably damaging	Het
Slc22a26	A	G	19: 7,760,201 (GRCm39)	L514P	probably damaging	Het
Slc22a28	A	C	19: 8,107,567 (GRCm39)	S167A	possibly damaging	Het
Speer1m	A	G	5: 11,971,377 (GRCm39)	S110G	possibly damaging	Het
Tchh	A	G	3: 93,352,606 (GRCm39)	E682G	unknown	Het
Thbs2	A	T	17: 14,889,097 (GRCm39)	M1134K	probably damaging	Het
Tmem26	A	G	10: 68,611,184 (GRCm39)	S218G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,254 (GRCm39)	S208R	probably benign	Het
Tnfrsf8	T	C	4: 145,019,161 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,596,875 (GRCm39)	S3872P	probably benign	Het
Vmn1r69	T	C	7: 10,313,879 (GRCm39)	N205S	probably benign	Het
Vmn2r54	T	A	7: 12,365,840 (GRCm39)		probably benign	Het
Wwtr1	A	T	3: 57,370,942 (GRCm39)	M328K	possibly damaging	Het
Zfp64	G	A	2: 168,768,601 (GRCm39)	S337L	probably benign	Het

Other mutations in Myc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02372:Myc	APN	15	61,859,707 (GRCm39)	missense	probably damaging	1.00
IGL02400:Myc	APN	15	61,861,760 (GRCm39)	unclassified	probably benign
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

2011-07-12