Mutagenetix > Incidental Mutation

Incidental Mutation 'R2400:Myg1'

248667

Institutional Source

Beutler Lab

Gene Symbol

Myg1

Ensembl Gene

ENSMUSG00000001285

Gene Name

melanocyte proliferating gene 1

Synonyms

Gamm1

MMRRC Submission

040366-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R2400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102240144-102246574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 102246171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 349 (G349R)

Ref Sequence

ENSEMBL: ENSMUSP00000109312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001331] [ENSMUST00000041208] [ENSMUST00000113682] [ENSMUST00000229900] [ENSMUST00000230481] [ENSMUST00000231061] [ENSMUST00000228959]

AlphaFold

Q9JK81

Predicted Effect

probably damaging
Transcript: ENSMUST00000001331
AA Change: G295R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285
AA Change: G295R

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	161	4.8e-54	PFAM
Pfam:UPF0160	158	312	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000041208

SMART Domains

Protein: ENSMUSP00000044604
Gene: ENSMUSG00000036678

Domain	Start	End	E-Value	Type
WD40	136	179	3.7e0	SMART
WD40	181	221	4.75e1	SMART
WD40	232	273	1.17e-5	SMART
WD40	278	315	2.66e0	SMART
Blast:WD40	319	357	2e-15	BLAST
low complexity region	534	545	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113682
AA Change: G349R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285
AA Change: G349R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UPF0160	45	365	1.5e-143	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170078

Predicted Effect

unknown
Transcript: ENSMUST00000171244
AA Change: G303R

SMART Domains

Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285
AA Change: G303R

Domain	Start	End	E-Value	Type
Pfam:UPF0160	41	209	1.7e-76	PFAM
Pfam:UPF0160	204	306	3.3e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171733

Predicted Effect

probably benign
Transcript: ENSMUST00000230239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229589

Predicted Effect

probably benign
Transcript: ENSMUST00000229900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230710

Predicted Effect

probably benign
Transcript: ENSMUST00000230481

Predicted Effect

probably benign
Transcript: ENSMUST00000230406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Predicted Effect

probably benign
Transcript: ENSMUST00000231061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231099

Predicted Effect

probably benign
Transcript: ENSMUST00000228959

Meta Mutation Damage Score

0.9645

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display no gross abnormalities but altered sex-dependent anxiety-like behaviors in different tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,377,566 (GRCm39)	T133A	unknown	Het
Adgrl2	G	T	3: 148,557,570 (GRCm39)	S519R	probably damaging	Het
AU041133	A	T	10: 81,986,742 (GRCm39)	K132*	probably null	Het
Bhlhe22	A	G	3: 18,109,615 (GRCm39)	N222D	probably damaging	Het
Cep72	C	A	13: 74,197,096 (GRCm39)	A69S	probably damaging	Het
Csn1s2a	T	A	5: 87,928,014 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,900,030 (GRCm39)	F872I	probably benign	Het
Dhx57	T	C	17: 80,567,845 (GRCm39)	D746G	probably damaging	Het
Dnah17	T	A	11: 118,017,210 (GRCm39)		probably null	Het
Fgg	A	G	3: 82,915,494 (GRCm39)	D37G	possibly damaging	Het
Fnip2	G	T	3: 79,386,941 (GRCm39)	S958R	probably benign	Het
Gfpt1	A	G	6: 87,064,330 (GRCm39)	D640G	probably damaging	Het
Golgb1	C	A	16: 36,738,828 (GRCm39)	T2389K	possibly damaging	Het
Hmgcl	C	A	4: 135,679,679 (GRCm39)		probably null	Het
Mmp11	T	A	10: 75,761,344 (GRCm39)	T419S	probably benign	Het
Nkiras1	T	A	14: 18,280,011 (GRCm38)	V108E	possibly damaging	Het
Pcsk1	T	C	13: 75,238,245 (GRCm39)	L22P	probably benign	Het
Rnf213	T	C	11: 119,334,021 (GRCm39)	Y3077H	probably damaging	Het
Sec62	A	G	3: 30,864,681 (GRCm39)	N182D	unknown	Het
Serpinb5	A	G	1: 106,809,682 (GRCm39)	T363A	probably damaging	Het
Usf3	T	A	16: 44,036,110 (GRCm39)	S197T	probably benign	Het
Vmn2r11	T	A	5: 109,199,928 (GRCm39)	E508D	probably benign	Het
Wdr81	A	G	11: 75,339,861 (GRCm39)	F1376L	probably benign	Het
Zfp260	T	C	7: 29,804,126 (GRCm39)	S9P	possibly damaging	Het

Other mutations in Myg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Myg1	APN	15	102,242,773 (GRCm39)	missense	probably benign	0.00
IGL02188:Myg1	APN	15	102,245,876 (GRCm39)	missense	probably benign	0.08
IGL02373:Myg1	APN	15	102,245,268 (GRCm39)	missense	probably damaging	0.99
IGL02885:Myg1	APN	15	102,240,594 (GRCm39)	missense	probably damaging	1.00
IGL03066:Myg1	APN	15	102,242,801 (GRCm39)	unclassified	probably benign
R0583:Myg1	UTSW	15	102,246,225 (GRCm39)	nonsense	probably null
R0631:Myg1	UTSW	15	102,240,284 (GRCm39)	missense	probably benign	0.00
R0835:Myg1	UTSW	15	102,240,537 (GRCm39)	missense	probably damaging	1.00
R1016:Myg1	UTSW	15	102,242,786 (GRCm39)	missense	possibly damaging	0.50
R1466:Myg1	UTSW	15	102,245,825 (GRCm39)	missense	probably damaging	1.00
R1466:Myg1	UTSW	15	102,245,825 (GRCm39)	missense	probably damaging	1.00
R1757:Myg1	UTSW	15	102,240,264 (GRCm39)	missense	probably benign
R2428:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R2429:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R2431:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R2997:Myg1	UTSW	15	102,245,945 (GRCm39)	missense	probably null	1.00
R3683:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R3826:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R3827:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R3829:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
R4923:Myg1	UTSW	15	102,240,288 (GRCm39)	missense	probably benign
R5363:Myg1	UTSW	15	102,246,259 (GRCm39)	missense	probably benign	0.00
R5419:Myg1	UTSW	15	102,245,397 (GRCm39)	missense	probably damaging	0.99
R9389:Myg1	UTSW	15	102,245,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAATGACTCTACCTACCTTG -3'
(R):5'- GTTGTCAACTGAAAAGCAAAGCAC -3'

Sequencing Primer
(F):5'- GAATGACTCTACCTACCTTGAAGTC -3'
(R):5'- AGCAAAGCACTTACAAGTCTAAG -3'

Posted On

2014-11-11