Mutagenetix > Incidental Mutation

Incidental Mutation 'R1016:Myg1'

96356

Institutional Source

Beutler Lab

Gene Symbol

Myg1

Ensembl Gene

ENSMUSG00000001285

Gene Name

melanocyte proliferating gene 1

Synonyms

Gamm1

MMRRC Submission

039120-MU

Accession Numbers

Essential gene?

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

Stock #

R1016 (G1)

Quality Score

125

Status

Not validated

Chromosome

Chromosomal Location

102240144-102246574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102242786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 159 (I159T)

Ref Sequence

ENSEMBL: ENSMUSP00000109312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001331] [ENSMUST00000001335] [ENSMUST00000041208] [ENSMUST00000062492] [ENSMUST00000113682] [ENSMUST00000170627] [ENSMUST00000166658] [ENSMUST00000165671] [ENSMUST00000165717] [ENSMUST00000228959]

AlphaFold

Q9JK81

Predicted Effect

probably benign
Transcript: ENSMUST00000001331
AA Change: I156T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000001331
Gene: ENSMUSG00000001285
AA Change: I156T

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: ENSMUST00000001335

SMART Domains

Protein: ENSMUSP00000001335
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	12	58	4e-3	SMART

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 benign
Transcript: ENSMUST00000062492

SMART Domains

Protein: ENSMUSP00000126970
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113682
AA Change: I159T

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109312
Gene: ENSMUSG00000001285
AA Change: I159T

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

probably benign
Transcript: ENSMUST00000171244
AA Change: I154T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129494
Gene: ENSMUSG00000001285
AA Change: I154T

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: ENSMUST00000170281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171733

Predicted Effect

probably benign
Transcript: ENSMUST00000170627

SMART Domains

Protein: ENSMUSP00000131245
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	7	99	4.6e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166658

SMART Domains

Protein: ENSMUSP00000129178
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	22	143	8.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165671

SMART Domains

Protein: ENSMUSP00000128526
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	75	2.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165717

SMART Domains

Protein: ENSMUSP00000132441
Gene: ENSMUSG00000001289

Domain	Start	End	E-Value	Type
Pfam:Prefoldin	1	72	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228959

Predicted Effect

probably benign
Transcript: ENSMUST00000230239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231099

Predicted Effect

probably benign
Transcript: ENSMUST00000230406

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.3%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam20	T	A	7: 19,710,227 (GRCm39)	H6Q	probably null	Het
Clstn1	T	C	4: 149,731,286 (GRCm39)	I866T	probably benign	Het
Cntnap1	T	C	11: 101,068,333 (GRCm39)	V86A	probably damaging	Het
Crtc1	A	T	8: 70,844,769 (GRCm39)	Y351*	probably null	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2j12	C	T	4: 96,001,102 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,652,938 (GRCm39)	K183N	probably damaging	Het
Fancl	G	T	11: 26,337,195 (GRCm39)		probably benign	Het
Fbxo40	G	A	16: 36,789,539 (GRCm39)	Q524*	probably null	Het
Flcn	T	C	11: 59,686,691 (GRCm39)		probably null	Het
Gm19965	T	A	1: 116,749,031 (GRCm39)	C237*	probably null	Het
Hpf1	A	G	8: 61,348,678 (GRCm39)	Y131C	possibly damaging	Het
Mdh1	A	G	11: 21,509,769 (GRCm39)	L202P	probably benign	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Mtus1	A	G	8: 41,503,063 (GRCm39)	V784A	probably benign	Het
Nans	T	C	4: 46,500,716 (GRCm39)	Y203H	probably benign	Het
Ncapg2	G	A	12: 116,402,295 (GRCm39)	C709Y	probably damaging	Het
Or8b36	T	C	9: 37,937,987 (GRCm39)	V295A	probably damaging	Het
Parp12	T	C	6: 39,088,660 (GRCm39)	Y192C	probably damaging	Het
Plekha6	A	G	1: 133,187,832 (GRCm39)	N118D	probably benign	Het
Prg4	T	C	1: 150,330,442 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,135 (GRCm39)	T454A	possibly damaging	Het
Ptprz1	T	C	6: 23,000,973 (GRCm39)	L1021P	probably damaging	Het
Pvr	T	C	7: 19,643,142 (GRCm39)	I364V	probably benign	Het
Serpina5	A	G	12: 104,071,582 (GRCm39)	I396M	probably damaging	Het
Sgcb	A	C	5: 73,797,183 (GRCm39)	H192Q	probably benign	Het
Slc4a9	C	A	18: 36,664,478 (GRCm39)	H379N	probably benign	Het
Tet1	T	C	10: 62,715,729 (GRCm39)	D22G	probably benign	Het
Trim34a	T	C	7: 103,897,167 (GRCm39)	V77A	probably benign	Het
Ttc7b	T	C	12: 100,369,617 (GRCm39)	E384G	probably null	Het
Vmn2r16	G	A	5: 109,487,754 (GRCm39)	G209D	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
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
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'- TGGCACCAGAGGACACGCTAAC -3'
(R):5'- AGTACCCACTGCCCACTTCAGG -3'

Sequencing Primer
(F):5'- ACGCTAACATCTTCTCAAGTGG -3'
(R):5'- gttattttgttctcctgctgcc -3'

Posted On

2014-01-05