Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01475:Mreg'

88447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mreg

Ensembl Gene

ENSMUSG00000039395

Gene Name

melanoregulin

Synonyms

LOC381269, dsu, Wdt2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01475

Quality Score

Status

Chromosome

Chromosomal Location

72198601-72251466 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 72203325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048860]

AlphaFold

Q6NVG5

Predicted Effect

probably benign
Transcript: ENSMUST00000048860

SMART Domains

Protein: ENSMUSP00000041878
Gene: ENSMUSG00000039395

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
Pfam:MREG	44	192	5.2e-74	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: A spontaneous suppressor mutation restores normal melanocyte morphology and therefore coat color in mutations producing coat color dilution. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	A	T	14: 59,380,252 (GRCm39)	N15K	possibly damaging	Het
Adam32	A	T	8: 25,362,664 (GRCm39)	I587K	probably damaging	Het
Adamtsl4	T	C	3: 95,584,843 (GRCm39)	S942G	probably benign	Het
Adamtsl5	A	G	10: 80,180,750 (GRCm39)	F104S	probably damaging	Het
Adgrf5	A	G	17: 43,761,245 (GRCm39)	D980G	probably benign	Het
Apba1	A	T	19: 23,894,950 (GRCm39)	D462V	possibly damaging	Het
Arhgef11	T	C	3: 87,634,433 (GRCm39)		probably benign	Het
Cd74	T	C	18: 60,943,393 (GRCm39)		probably benign	Het
Cdc16	T	C	8: 13,831,542 (GRCm39)	S592P	probably benign	Het
Cenpj	A	G	14: 56,802,502 (GRCm39)	M21T	possibly damaging	Het
Col28a1	A	G	6: 8,103,521 (GRCm39)	L425S	probably damaging	Het
Dbt	C	T	3: 116,313,908 (GRCm39)	T25I	possibly damaging	Het
Dguok	C	A	6: 83,467,552 (GRCm39)	M98I	possibly damaging	Het
Dmxl1	T	C	18: 50,004,781 (GRCm39)	L943P	probably damaging	Het
Eloa	G	A	4: 135,738,231 (GRCm39)	S243L	probably benign	Het
Enkur	C	A	2: 21,201,530 (GRCm39)	A52S	probably damaging	Het
Ezh1	T	C	11: 101,083,787 (GRCm39)	E744G	probably damaging	Het
Fbxw11	T	C	11: 32,672,101 (GRCm39)	S190P	possibly damaging	Het
Foxb1	G	A	9: 69,666,550 (GRCm39)		probably benign	Het
Gabra5	C	T	7: 57,058,432 (GRCm39)	G439S	probably damaging	Het
Gtf2h2	A	T	13: 100,617,541 (GRCm39)	V207D	probably damaging	Het
Hoatz	A	G	9: 51,011,358 (GRCm39)	I93T	probably benign	Het
Krt76	A	G	15: 101,796,948 (GRCm39)	V317A	probably benign	Het
Lair1	C	A	7: 4,012,683 (GRCm39)		probably benign	Het
Lrit2	T	A	14: 36,791,051 (GRCm39)	H243Q	probably damaging	Het
Mast3	C	T	8: 71,232,174 (GRCm39)	A1268T	probably damaging	Het
Matn2	G	A	15: 34,316,671 (GRCm39)	M4I	possibly damaging	Het
Mob1b	T	A	5: 88,897,502 (GRCm39)	F137I	probably damaging	Het
Nom1	T	C	5: 29,651,272 (GRCm39)	V684A	possibly damaging	Het
Pate2	T	A	9: 35,580,998 (GRCm39)	L1Q	probably null	Het
Pla2r1	T	C	2: 60,271,425 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,331,870 (GRCm39)	F447L	possibly damaging	Het
Pno1	A	T	11: 17,160,992 (GRCm39)	I114N	probably damaging	Het
Ppp1r7	T	G	1: 93,288,540 (GRCm39)		probably benign	Het
Pprc1	T	A	19: 46,059,968 (GRCm39)	Y1503N	probably benign	Het
Rab30	T	C	7: 92,484,930 (GRCm39)	V132A	probably damaging	Het
Slc15a4	T	C	5: 127,679,024 (GRCm39)	T439A	probably benign	Het
Slc29a3	A	G	10: 60,559,596 (GRCm39)	V186A	possibly damaging	Het
Stxbp5l	G	A	16: 37,165,454 (GRCm39)	T88I	possibly damaging	Het
Tarbp1	A	G	8: 127,160,701 (GRCm39)	V1250A	probably benign	Het
Tcte2	A	T	17: 13,937,824 (GRCm39)		probably benign	Het
Trp53bp1	A	T	2: 121,100,800 (GRCm39)		probably null	Het
Trpc4	A	T	3: 54,173,828 (GRCm39)	L407F	possibly damaging	Het
Vmn1r6	T	C	6: 56,979,896 (GRCm39)	F164S	probably damaging	Het
Zfp579	C	A	7: 4,997,743 (GRCm39)	R56L	probably benign	Het

Other mutations in Mreg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Mreg	APN	1	72,203,291 (GRCm39)	missense	probably benign	0.03
IGL02473:Mreg	APN	1	72,201,495 (GRCm39)	missense	probably damaging	1.00
R0044:Mreg	UTSW	1	72,201,534 (GRCm39)	missense	probably damaging	1.00
R1635:Mreg	UTSW	1	72,231,356 (GRCm39)	missense	probably benign	0.00
R2281:Mreg	UTSW	1	72,231,223 (GRCm39)	missense	probably damaging	0.98
R4880:Mreg	UTSW	1	72,201,495 (GRCm39)	missense	probably damaging	1.00
R5343:Mreg	UTSW	1	72,200,117 (GRCm39)	missense	probably damaging	1.00
R5723:Mreg	UTSW	1	72,201,527 (GRCm39)	missense	probably damaging	1.00
R5945:Mreg	UTSW	1	72,231,359 (GRCm39)	missense	probably benign	0.00
R7673:Mreg	UTSW	1	72,200,123 (GRCm39)	missense	probably benign	0.00
R8327:Mreg	UTSW	1	72,203,257 (GRCm39)	missense	possibly damaging	0.91
R9128:Mreg	UTSW	1	72,231,216 (GRCm39)	missense	probably benign	0.00

Posted On

2013-11-18