Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Mgrn1'

646707

Institutional Source

Beutler Lab

Gene Symbol

Mgrn1

Ensembl Gene

ENSMUSG00000022517

Gene Name

mahogunin, ring finger 1

Synonyms

nc, 2610042J20Rik

MMRRC Submission

067744-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4704113-4756160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4733630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 192 (L192Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023159 (fasta)

Gene Model

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

AlphaFold

Q9D074

Predicted Effect

probably damaging
Transcript: ENSMUST00000023159
AA Change: L192Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517
AA Change: L192Q

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 damaging
Transcript: ENSMUST00000070658
AA Change: L192Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: L192Q

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 damaging
Transcript: ENSMUST00000229038
AA Change: L193Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230990
AA Change: L192Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	C	8: 25,409,936 (GRCm39)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,610,520 (GRCm39)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Atp12a	G	T	14: 56,612,083 (GRCm39)		probably null	Het
Birc6	C	T	17: 74,896,635 (GRCm39)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,906,515 (GRCm39)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,888,414 (GRCm39)	N67K	probably benign	Het
Cachd1	G	A	4: 100,832,073 (GRCm39)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,354,665 (GRCm39)	Q238*	probably null	Het
Cdc42	G	A	4: 137,056,205 (GRCm39)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,475,549 (GRCm39)	C307W	unknown	Het
Ddb1	G	A	19: 10,596,669 (GRCm39)	V463M	probably damaging	Het
Dhx30	G	A	9: 109,917,707 (GRCm39)	R365C	probably benign	Het
Dnah1	A	G	14: 31,023,303 (GRCm39)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,672,653 (GRCm39)	V144A	probably benign	Het
Enpp2	T	A	15: 54,773,491 (GRCm39)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,063,519 (GRCm39)	V317I	possibly damaging	Het
Gc	G	A	5: 89,586,118 (GRCm39)	Q341*	probably null	Het
Gpt2	A	T	8: 86,219,694 (GRCm39)	I47F	probably benign	Het
Ino80	A	T	2: 119,272,968 (GRCm39)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,077,051 (GRCm39)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,534,753 (GRCm39)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,112,018 (GRCm39)	V630A	probably benign	Het
Man2a2	C	T	7: 80,010,671 (GRCm39)	W773*	probably null	Het
Mtx1	A	G	3: 89,121,478 (GRCm39)	V52A	probably benign	Het
Myc	A	T	15: 61,859,395 (GRCm39)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,551,076 (GRCm39)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,023,592 (GRCm39)	N493D	probably damaging	Het
Or52w1	C	A	7: 105,017,847 (GRCm39)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,052,661 (GRCm39)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,518,684 (GRCm39)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,426,947 (GRCm39)	I703V	possibly damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Plcb3	A	G	19: 6,944,071 (GRCm39)	S36P	probably damaging	Het
Plk5	T	C	10: 80,196,179 (GRCm39)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,821,638 (GRCm39)	E99D	probably benign	Het
Rnf4	C	T	5: 34,508,701 (GRCm39)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scel	A	G	14: 103,809,451 (GRCm39)	S264G	probably benign	Het
Sdk1	A	G	5: 142,144,376 (GRCm39)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,718,115 (GRCm39)	Y255H	probably benign	Het
Syne1	C	T	10: 4,993,615 (GRCm39)	G525D	probably benign	Het
Taldo1	T	C	7: 140,981,788 (GRCm39)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,853 (GRCm39)	T428A	probably damaging	Het
Tlr6	T	C	5: 65,112,455 (GRCm39)	K151E	probably benign	Het
Ubr2	T	A	17: 47,253,721 (GRCm39)	D1468V	probably benign	Het
Ubtf	A	C	11: 102,199,737 (GRCm39)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,314,697 (GRCm39)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,149,869 (GRCm39)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,525,230 (GRCm39)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,857,037 (GRCm39)	Y81D	probably damaging	Het
Zw10	A	T	9: 48,988,783 (GRCm39)	Y683F	possibly damaging	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
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
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'- TTTCACCCAAAACAGGAGACT -3'
(R):5'- AGACACCCTGTTCCCAGAAGAG -3'

Sequencing Primer
(F):5'- GACTGGATGATAGCACTGTTCAC -3'
(R):5'- AGGAGGTCCTCTGATGACTCAG -3'

Posted On

2020-09-02