Mutagenetix > Incidental Mutation

Incidental Mutation 'R1515:Mgrn1'

168247

Institutional Source

Beutler Lab

Gene Symbol

Mgrn1

Ensembl Gene

ENSMUSG00000022517

Gene Name

mahogunin, ring finger 1

Synonyms

nc, 2610042J20Rik

MMRRC Submission

039562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4704113-4756160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4733644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 198 (F198I)

Ref Sequence

ENSEMBL: ENSMUSP00000155034 (fasta)

Gene Model

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

AlphaFold

Q9D074

Predicted Effect

probably benign
Transcript: ENSMUST00000023159
AA Change: F197I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517
AA Change: F197I

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 benign
Transcript: ENSMUST00000070658
AA Change: F197I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: F197I

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 benign
Transcript: ENSMUST00000229038
AA Change: F198I

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230653

Predicted Effect

probably benign
Transcript: ENSMUST00000230990
AA Change: F197I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,336,583 (GRCm39)	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,027,498 (GRCm39)	V23L	probably benign	Het
Atmin	T	A	8: 117,681,579 (GRCm39)	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,152,792 (GRCm39)	V225I	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC024139	A	G	15: 76,008,526 (GRCm39)	V350A	possibly damaging	Het
Birc6	G	T	17: 74,835,631 (GRCm39)	E29*	probably null	Het
Bnc2	T	C	4: 84,332,563 (GRCm39)	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,147,515 (GRCm39)		probably null	Het
Cd320	G	T	17: 34,066,613 (GRCm39)	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,510,133 (GRCm39)	S542P	probably damaging	Het
Crocc	T	C	4: 140,747,048 (GRCm39)	T1587A	probably benign	Het
Defb41	T	C	1: 18,330,817 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,384 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,355 (GRCm39)	N2836S	probably benign	Het
Dpp8	G	A	9: 64,986,030 (GRCm39)	S840N	probably benign	Het
Dsc2	A	G	18: 20,167,758 (GRCm39)	F111L	probably damaging	Het
Dsc2	T	A	18: 20,178,622 (GRCm39)	I261F	probably benign	Het
Ece1	T	C	4: 137,678,819 (GRCm39)	V509A	probably benign	Het
Ecm2	T	C	13: 49,671,808 (GRCm39)	M103T	possibly damaging	Het
Emsy	T	C	7: 98,240,063 (GRCm39)	H1064R	probably damaging	Het
Engase	T	C	11: 118,377,966 (GRCm39)	V252A	possibly damaging	Het
F13b	A	G	1: 139,438,703 (GRCm39)	Y369C	probably damaging	Het
Flii	T	C	11: 60,612,432 (GRCm39)		probably null	Het
Fzd10	T	A	5: 128,679,623 (GRCm39)	F448I	probably damaging	Het
Gpr35	T	G	1: 92,910,770 (GRCm39)	F161V	probably damaging	Het
Gprin2	T	C	14: 33,917,230 (GRCm39)	D180G	possibly damaging	Het
Grik3	A	G	4: 125,564,521 (GRCm39)	N501S	probably benign	Het
Hells	A	G	19: 38,956,209 (GRCm39)	K802E	probably damaging	Het
Il1r1	T	A	1: 40,332,509 (GRCm39)	C96*	probably null	Het
Kcnk16	T	A	14: 20,315,345 (GRCm39)	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,472,905 (GRCm39)	S652P	probably benign	Het
Lamc3	A	G	2: 31,830,763 (GRCm39)	D1500G	probably damaging	Het
Macf1	A	G	4: 123,272,273 (GRCm39)	F6468L	probably damaging	Het
Mmp3	A	G	9: 7,451,232 (GRCm39)	T323A	probably benign	Het
N4bp2	A	G	5: 65,947,841 (GRCm39)	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,124,781 (GRCm39)	H190Q	probably benign	Het
Or10a3m	T	C	7: 108,313,148 (GRCm39)	V184A	possibly damaging	Het
Or5b118	T	C	19: 13,449,044 (GRCm39)	S237P	probably damaging	Het
Or6c75	T	C	10: 129,337,460 (GRCm39)	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380 (GRCm39)	G414D	probably benign	Het
Pkd1	G	A	17: 24,813,827 (GRCm39)	R4097H	probably benign	Het
Pnkd	T	A	1: 74,388,968 (GRCm39)	L213Q	probably null	Het
Ppfibp1	A	G	6: 146,928,930 (GRCm39)	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,646,257 (GRCm39)	D148G	probably damaging	Het
Ptprt	A	T	2: 162,079,954 (GRCm39)	S282T	probably damaging	Het
Sgsm3	T	C	15: 80,894,457 (GRCm39)	V536A	probably benign	Het
Slc22a23	T	A	13: 34,387,947 (GRCm39)	Q383L	probably benign	Het
Snx29	T	C	16: 11,217,701 (GRCm39)		probably null	Het
Tmem229b-ps	T	A	10: 53,351,542 (GRCm39)		noncoding transcript	Het
Tmod4	A	T	3: 95,035,990 (GRCm39)	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,843,108 (GRCm39)	M375T	probably benign	Het
Txndc11	A	G	16: 10,892,926 (GRCm39)	S935P	probably damaging	Het
Umod	T	C	7: 119,064,720 (GRCm39)	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,917,643 (GRCm39)	Y290H	probably benign	Het
Vps26b	A	G	9: 26,924,041 (GRCm39)	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,104,658 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,252,647 (GRCm39)	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,039,039 (GRCm39)		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
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
R7095:Mgrn1	UTSW	16	4,745,528 (GRCm39)	splice 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'- CAGTTTGGAGAGCCATTCAGGAGC -3'
(R):5'- TTCCCTACAGCATTGGCACAGC -3'

Sequencing Primer
(F):5'- CCATTCAGGAGCTATGAGGTC -3'
(R):5'- CACGTTGTTGCACGGCTAAG -3'

Posted On

2014-04-13