Mutagenetix > Incidental Mutation

Incidental Mutation 'R7095:Mgrn1'

568687

Institutional Source

Beutler Lab

Gene Symbol

Mgrn1

Ensembl Gene

ENSMUSG00000022517

Gene Name

mahogunin, ring finger 1

Synonyms

nc, 2610042J20Rik

MMRRC Submission

045243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4704113-4756160 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 4745528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023159] [ENSMUST00000070658] [ENSMUST00000229038] [ENSMUST00000230990]

AlphaFold

Q9D074

Predicted Effect

probably null
Transcript: ENSMUST00000023159

SMART Domains

Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517

Domain	Start	End	E-Value	Type
low complexity region	205	216	N/A	INTRINSIC
low complexity region	268	278	N/A	INTRINSIC
RING	279	317	4.58e-4	SMART
low complexity region	349	360	N/A	INTRINSIC
low complexity region	443	454	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000070658

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC
RING	278	316	4.58e-4	SMART
low complexity region	348	359	N/A	INTRINSIC
low complexity region	442	453	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000229038

Predicted Effect

probably null
Transcript: ENSMUST00000230990

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygotes for mutant alleles exhibit darkening of agouti hair and suppression of the obesity associated with certain agouti mutations. Homozygotes for an induced null mutation also have curly whiskers and develop a progressive spongiform neuropathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,268,403 (GRCm39)	V809A	possibly damaging	Het
Adam32	T	A	8: 25,404,086 (GRCm39)	D242V	probably damaging	Het
Adamts9	T	A	6: 92,864,672 (GRCm39)	H763L	probably benign	Het
Aff1	A	G	5: 103,990,951 (GRCm39)	D967G	probably damaging	Het
Anpep	A	T	7: 79,491,950 (GRCm39)	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,125,553 (GRCm39)	S28*	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bod1l	A	G	5: 41,952,411 (GRCm39)		probably null	Het
Capn5	G	A	7: 97,775,038 (GRCm39)	T534I	probably benign	Het
Cbx2	T	C	11: 118,918,885 (GRCm39)	I150T	probably damaging	Het
Cdh11	A	G	8: 103,384,899 (GRCm39)	V392A	probably damaging	Het
Cenpf	A	T	1: 189,391,373 (GRCm39)	C803S	probably benign	Het
Cep135	A	G	5: 76,741,905 (GRCm39)	T114A	probably benign	Het
Chd2	A	T	7: 73,121,629 (GRCm39)	D994E	probably damaging	Het
Chtf18	C	A	17: 25,941,652 (GRCm39)	W584C	probably damaging	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dgkh	C	A	14: 78,865,224 (GRCm39)	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,607,110 (GRCm39)	H117P	probably benign	Het
Dzip3	A	T	16: 48,748,153 (GRCm39)	N908K	probably benign	Het
Erc2	A	T	14: 27,620,550 (GRCm39)	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,132,786 (GRCm39)	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,615,378 (GRCm39)	L816F	probably damaging	Het
Fat2	A	G	11: 55,202,157 (GRCm39)	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,779,574 (GRCm39)	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,805,824 (GRCm39)		probably benign	Het
Gsk3a	A	T	7: 24,933,279 (GRCm39)	Y177N	probably damaging	Het
Haus5	T	C	7: 30,358,997 (GRCm39)	T222A	probably benign	Het
Igfbp7	G	T	5: 77,549,337 (GRCm39)	Q189K	probably benign	Het
Inppl1	A	T	7: 101,476,663 (GRCm39)	Y771*	probably null	Het
Iqck	A	T	7: 118,514,814 (GRCm39)	Y234F	probably damaging	Het
Irs1	G	T	1: 82,267,819 (GRCm39)	C132*	probably null	Het
Jmjd1c	T	G	10: 67,055,411 (GRCm39)	V277G	probably benign	Het
Klhl22	G	A	16: 17,610,614 (GRCm39)	V622M	probably damaging	Het
Kri1	C	T	9: 21,190,728 (GRCm39)	E378K		Het
Lilra6	C	T	7: 3,916,196 (GRCm39)	G221D	probably damaging	Het
Mecom	T	C	3: 30,035,103 (GRCm39)	E191G	probably damaging	Het
Mical1	C	T	10: 41,355,206 (GRCm39)		probably null	Het
Mlxipl	T	C	5: 135,162,884 (GRCm39)	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,301,260 (GRCm39)	H535L		Het
Mtarc1	A	G	1: 184,527,437 (GRCm39)	L297P	probably damaging	Het
Mtfr2	C	A	10: 20,228,666 (GRCm39)	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,992,272 (GRCm39)	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,067,635 (GRCm39)	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,063,792 (GRCm39)	A67T	probably damaging	Het
Noc3l	T	A	19: 38,800,789 (GRCm39)	H231L	probably benign	Het
Odf1	T	C	15: 38,219,803 (GRCm39)	Y44H	possibly damaging	Het
Or52e2	G	A	7: 102,804,537 (GRCm39)	T139I	probably damaging	Het
Or52s1b	C	T	7: 102,822,253 (GRCm39)	R197H	probably benign	Het
Or5j3	C	T	2: 86,129,021 (GRCm39)	P287L	probably benign	Het
Otol1	G	T	3: 69,926,027 (GRCm39)	E67D	probably benign	Het
Otud7b	A	G	3: 96,062,554 (GRCm39)	S598G	probably benign	Het
Ppwd1	T	A	13: 104,342,134 (GRCm39)	T607S	probably benign	Het
Prag1	A	G	8: 36,569,714 (GRCm39)	N99S	probably benign	Het
Ralgds	C	A	2: 28,439,320 (GRCm39)	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,505,549 (GRCm39)	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,831,290 (GRCm39)	Q575H	probably benign	Het
Slc9a5	A	T	8: 106,084,268 (GRCm39)	H497L	probably benign	Het
Sufu	T	A	19: 46,464,027 (GRCm39)	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,818,843 (GRCm39)	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,576,196 (GRCm39)	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,734,368 (GRCm39)	S348P	probably benign	Het
Tmem219	A	T	7: 126,490,928 (GRCm39)	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,905,291 (GRCm39)	D104G	probably damaging	Het
Uba7	A	G	9: 107,860,538 (GRCm39)	K927R	probably benign	Het
Vps54	T	G	11: 21,221,720 (GRCm39)	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,000,196 (GRCm39)		probably null	Het
Xpo7	G	A	14: 70,942,146 (GRCm39)	R73W	probably damaging	Het
Zfp532	A	T	18: 65,815,969 (GRCm39)	M781L	probably benign	Het
Zfp930	T	A	8: 69,681,193 (GRCm39)	I295K	probably benign	Het

Other mutations in Mgrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Mgrn1	APN	16	4,734,019 (GRCm39)	critical splice donor site	probably null
IGL02175:Mgrn1	APN	16	4,738,232 (GRCm39)	missense	probably benign	0.02
IGL02382:Mgrn1	APN	16	4,740,482 (GRCm39)	missense	probably damaging	0.97
R1204:Mgrn1	UTSW	16	4,725,273 (GRCm39)	missense	probably damaging	1.00
R1515:Mgrn1	UTSW	16	4,733,644 (GRCm39)	missense	probably benign	0.11
R1625:Mgrn1	UTSW	16	4,728,627 (GRCm39)	missense	probably damaging	1.00
R2875:Mgrn1	UTSW	16	4,725,280 (GRCm39)	missense	possibly damaging	0.85
R4928:Mgrn1	UTSW	16	4,745,726 (GRCm39)	missense	probably benign	0.29
R4955:Mgrn1	UTSW	16	4,752,083 (GRCm39)	missense	probably benign	0.00
R6085:Mgrn1	UTSW	16	4,738,240 (GRCm39)	missense	probably benign	0.01
R6189:Mgrn1	UTSW	16	4,728,674 (GRCm39)	critical splice donor site	probably null
R7293:Mgrn1	UTSW	16	4,750,084 (GRCm39)	missense	probably benign	0.01
R7610:Mgrn1	UTSW	16	4,752,097 (GRCm39)	makesense	probably null
R8187:Mgrn1	UTSW	16	4,738,229 (GRCm39)	missense	probably benign	0.02
R8376:Mgrn1	UTSW	16	4,733,630 (GRCm39)	missense	probably damaging	1.00
R9710:Mgrn1	UTSW	16	4,745,740 (GRCm39)	nonsense	probably null
Z1177:Mgrn1	UTSW	16	4,740,588 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCTGGACATCTGGGTACTGG -3'
(R):5'- TCGATCAAGTCCAGCAAGGG -3'

Sequencing Primer
(F):5'- CCGAGGGAATCCTGAGCAG -3'
(R):5'- TCCAGCAAGGGGACAACTG -3'

Posted On

2019-09-12