Mutagenetix > Incidental Mutation

Incidental Mutation 'R2997:Myg1'

257207

Institutional Source

Beutler Lab

Gene Symbol

Myg1

Ensembl Gene

ENSMUSG00000001285

Gene Name

melanocyte proliferating gene 1

Synonyms

Gamm1

Accession Numbers

Essential gene?

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

Stock #

R2997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102240144-102246574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102245945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 315 (R315L)

Ref Sequence

ENSEMBL: ENSMUSP00000109312 (fasta)

Gene Model

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

AlphaFold

Q9JK81

Predicted Effect

probably null
Transcript: ENSMUST00000001331
AA Change: R261L

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

SMART Domains

Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285
AA Change: R261L

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 null
Transcript: ENSMUST00000113682
AA Change: R315L

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

SMART Domains

Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285
AA Change: R315L

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

probably null
Transcript: ENSMUST00000171244
AA Change: R269L

SMART Domains

Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285
AA Change: R269L

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: ENSMUST00000170281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171733

Predicted Effect

probably benign
Transcript: ENSMUST00000229900

Predicted Effect

probably benign
Transcript: ENSMUST00000228959

Predicted Effect

probably benign
Transcript: ENSMUST00000231061

Predicted Effect

probably benign
Transcript: ENSMUST00000230481

Predicted Effect

probably benign
Transcript: ENSMUST00000230239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229315

Predicted Effect

probably benign
Transcript: ENSMUST00000230406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231099

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,523,285 (GRCm39)	V82E	probably damaging	Het
Ahcyl	G	A	16: 45,974,288 (GRCm39)	T363I	possibly damaging	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl6	A	T	16: 59,444,239 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Elp4	A	G	2: 105,644,661 (GRCm39)	F228L	possibly damaging	Het
Fndc3b	A	C	3: 27,523,021 (GRCm39)	D519E	probably benign	Het
Gbp9	T	A	5: 105,230,635 (GRCm39)	I430F	probably benign	Het
Lgr4	A	T	2: 109,833,862 (GRCm39)	E369D	probably benign	Het
Lrguk	T	A	6: 34,050,697 (GRCm39)	V385D	probably damaging	Het
Mier1	T	A	4: 102,988,233 (GRCm39)	D52E	probably damaging	Het
Mthfd1	G	T	12: 76,361,810 (GRCm39)	V139F	probably benign	Het
Pcare	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	17: 72,051,706 (GRCm39)		probably benign	Het
Tchh	CACGCGAGGAACGCGAGGAAC	CACGCGAGGAAC	3: 93,355,057 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,716,350 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,427,800 (GRCm39)	D268G	probably 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
R2400:Myg1	UTSW	15	102,246,171 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTTTCAGGTAGATTCAAGTGGGG -3'
(R):5'- GCATGGACGAAGATGCAACC -3'

Sequencing Primer
(F):5'- TTCAAGTGGGGAAATAGTGGAACTC -3'
(R):5'- GATCCCACTGACTTGGTCCAG -3'

Posted On

2015-01-11