Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Mreg'

501669

Institutional Source

Beutler Lab

Gene Symbol

Mreg

Ensembl Gene

ENSMUSG00000039395

Gene Name

melanoregulin

Synonyms

dsu, Wdt2, LOC381269

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5945 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

72159442-72212307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72192200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 33 (G33D)

Ref Sequence

ENSEMBL: ENSMUSP00000041878 (fasta)

Gene Model

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

AlphaFold

Q6NVG5

Predicted Effect

probably benign
Transcript: ENSMUST00000048860
AA Change: G33D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041878
Gene: ENSMUSG00000039395
AA Change: G33D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,339		noncoding transcript	Het
Abca13	C	T	11: 9,293,398	H1754Y	probably benign	Het
Abi1	T	C	2: 23,039,965	E34G	probably damaging	Het
Apobec3	C	T	15: 79,897,846	T19I	probably damaging	Het
Arel1	C	A	12: 84,926,347	V559L	probably benign	Het
Arhgef10	T	C	8: 14,980,028		probably null	Het
Asb6	T	C	2: 30,828,203		probably benign	Het
Asxl2	T	C	12: 3,500,439	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,237,243	R1100L	probably benign	Het
Atp6v1a	A	G	16: 44,099,946	V429A	probably damaging	Het
Caml	A	G	13: 55,628,632	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,723,588	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,485,850	E400G	probably damaging	Het
Ces1h	T	A	8: 93,363,626	E266V	probably benign	Het
Chd5	G	T	4: 152,379,951	Q1522H	probably benign	Het
CN725425	T	A	15: 91,245,777	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579	E62V	probably null	Het
Cops5	T	A	1: 10,038,010		probably benign	Het
Crhr2	T	A	6: 55,100,682	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,786,316		probably benign	Het
Ddx31	T	A	2: 28,859,890	I308N	probably damaging	Het
Efcab14	T	A	4: 115,756,467	V204D	probably damaging	Het
Emsy	T	C	7: 98,619,383	T484A	probably damaging	Het
Ep400	A	T	5: 110,682,866	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,828,730	Q420L	possibly damaging	Het
Fat4	A	G	3: 38,983,206	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,114,199	T607K	probably damaging	Het
Glod4	T	C	11: 76,234,471	Y135C	probably damaging	Het
Gm10912	A	G	2: 104,066,616	I33M	possibly damaging	Het
Gm5592	T	C	7: 41,215,612		probably benign	Het
Gm6614	T	A	6: 141,994,282	N145I	probably damaging	Het
Gria4	A	G	9: 4,456,122	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,460,626	E220G	probably benign	Het
Itga1	T	G	13: 114,966,590	N1102H	probably benign	Het
Itpk1	A	G	12: 102,588,553	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,745,322	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,568,701		probably null	Het
Kif24	G	A	4: 41,428,670	Q97*	probably null	Het
Klhl2	T	C	8: 64,749,728	I479V	probably benign	Het
Large1	T	C	8: 72,852,200	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,655,497	L169R	probably damaging	Het
Loxl3	T	G	6: 83,037,511	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,584,463	Y4H	unknown	Het
March7	A	G	2: 60,240,987	K612E	probably damaging	Het
Ms4a6c	A	C	19: 11,480,499		probably benign	Het
Nrbf2	G	A	10: 67,267,520	S268F	possibly damaging	Het
Olfr1157	A	T	2: 87,962,602	C97S	probably damaging	Het
Olfr196	A	G	16: 59,168,119	L8P	probably benign	Het
Olfr197	C	T	16: 59,185,728	V252I	unknown	Het
Olfr729	A	G	14: 50,148,763	V37A	probably benign	Het
Oog4	T	A	4: 143,437,723	I341F	probably benign	Het
Pcdhb5	G	A	18: 37,321,470	R301Q	probably benign	Het
Podn	T	C	4: 108,021,713	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,455,532		probably null	Het
Ppp2r1a	C	G	17: 20,959,413	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,514,887	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,573,419		probably benign	Het
Rgl2	A	G	17: 33,932,038		probably null	Het
Ryr2	A	T	13: 11,660,122	I3373N	probably damaging	Het
Scap	A	G	9: 110,384,596	N1209S	probably benign	Het
Sin3b	T	C	8: 72,731,165	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,996,028	I296N	probably damaging	Het
Slco2a1	T	C	9: 103,046,790	S68P	probably damaging	Het
Snx8	A	G	5: 140,353,480	C161R	probably benign	Het
Spryd3	C	T	15: 102,118,195	C347Y	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Strn3	T	C	12: 51,629,496	T333A	probably benign	Het
Swt1	T	A	1: 151,411,170	E190D	probably benign	Het
Tchh	A	T	3: 93,445,337	I695F	unknown	Het
Tfap4	G	A	16: 4,545,629	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,891,866	T412K	probably benign	Het
Tmem184b	T	A	15: 79,365,481		probably null	Het
Trpa1	T	C	1: 14,898,135	D469G	probably benign	Het
Tssk1	T	C	16: 17,894,701	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,619,745	M313K	probably damaging	Het
Tubgcp6	T	C	15: 89,109,217		probably null	Het
Vav1	A	G	17: 57,301,870	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,324,886	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,362,332	L892*	probably null	Het
Zfp46	T	A	4: 136,287,217	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,702,416	P99Q	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp990	T	A	4: 145,538,043	I537N	probably damaging	Het

Other mutations in Mreg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Mreg	APN	1	72164132	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTCAGAAGGGGATTTACCTC -3'
(R):5'- GCTAGACACCCATCTTGCCATC -3'

Sequencing Primer
(F):5'- ACCTCTGAGTCTTTGGTCTGCTG -3'
(R):5'- CTGTCTTCAGTTACTCCAGAAGAGG -3'

Posted On

2017-12-01