Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00916:Mreg'

26629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mreg

Ensembl Gene

ENSMUSG00000039395

Gene Name

melanoregulin

Synonyms

dsu, Wdt2, LOC381269

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

72159442-72212307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72164132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 96 (T96S)

Ref Sequence

ENSEMBL: ENSMUSP00000041878 (fasta)

Gene Model

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

AlphaFold

Q6NVG5

Predicted Effect

probably benign
Transcript: ENSMUST00000048860
AA Change: T96S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041878
Gene: ENSMUSG00000039395
AA Change: T96S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,852	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,619,997	V114A	probably benign	Het
Ano4	T	C	10: 88,998,098	I459V	probably benign	Het
Atad5	C	T	11: 80,119,000	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,429,160	F43S	possibly damaging	Het
Cd96	T	C	16: 46,041,312	E505G	probably benign	Het
D17Wsu92e	A	G	17: 27,767,919	Y278H	probably damaging	Het
Eapp	T	C	12: 54,692,808	T75A	possibly damaging	Het
Emilin1	T	C	5: 30,913,902	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,562,655		probably benign	Het
Gucy2e	T	C	11: 69,223,097	I1089V	possibly damaging	Het
H6pd	C	A	4: 149,994,468		probably null	Het
Igsf10	A	T	3: 59,331,127	F544L	probably damaging	Het
Il23r	T	C	6: 67,473,931	Y188C	probably damaging	Het
Inpp5j	T	C	11: 3,502,389	E287G	probably damaging	Het
Lrp6	T	C	6: 134,484,289	D735G	probably damaging	Het
Mast2	A	T	4: 116,327,633	M240K	possibly damaging	Het
Mta2	A	T	19: 8,947,101	M220L	probably benign	Het
Mycbp2	A	G	14: 103,291,283		probably benign	Het
Naip2	T	A	13: 100,161,431	N699I	probably damaging	Het
Ncapg	T	G	5: 45,671,192	I95S	probably benign	Het
Ndufa13	A	G	8: 69,894,419		probably benign	Het
Nol10	T	A	12: 17,361,129		probably benign	Het
Parp8	T	A	13: 116,927,323	I85F	probably damaging	Het
Rgs2	T	A	1: 144,002,229	I78F	probably damaging	Het
Rpia	C	T	6: 70,775,102		probably benign	Het
Sec63	T	C	10: 42,812,457	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,520,678	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,453,549	I705R	probably damaging	Het
Ttf1	A	G	2: 29,070,042	N554S	probably benign	Het
Ulk1	A	G	5: 110,793,011	S351P	probably damaging	Het
Zp2	T	A	7: 120,138,174	N264Y	probably damaging	Het

Other mutations in Mreg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Mreg	APN	1	72164166	splice site	probably benign
IGL02473:Mreg	APN	1	72162336	missense	probably damaging	1.00
R0044:Mreg	UTSW	1	72162375	missense	probably damaging	1.00
R1635:Mreg	UTSW	1	72192197	missense	probably benign	0.00
R2281:Mreg	UTSW	1	72192064	missense	probably damaging	0.98
R4880:Mreg	UTSW	1	72162336	missense	probably damaging	1.00
R5343:Mreg	UTSW	1	72160958	missense	probably damaging	1.00
R5723:Mreg	UTSW	1	72162368	missense	probably damaging	1.00
R5945:Mreg	UTSW	1	72192200	missense	probably benign	0.00
R7673:Mreg	UTSW	1	72160964	missense	probably benign	0.00
R8327:Mreg	UTSW	1	72164098	missense	possibly damaging	0.91
R9128:Mreg	UTSW	1	72192057	missense	probably benign	0.00

Posted On

2013-04-17