Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Mgrn1'

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283076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgrn1

Ensembl Gene

ENSMUSG00000022517

Gene Name

mahogunin, ring finger 1

Synonyms

2610042J20Rik, nc

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

4886249-4938296 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4920368 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 262 (N262S)

Ref Sequence

ENSEMBL: ENSMUSP00000155034 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023159
AA Change: N261S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517
AA Change: N261S

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: N261S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: N261S

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: N262S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230653

Predicted Effect

probably benign
Transcript: ENSMUST00000230990
AA Change: N261S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Mgrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01108:Mgrn1	APN	16	4916155	critical splice donor site	probably null
IGL02382:Mgrn1	APN	16	4922618	missense	probably damaging	0.97
R1204:Mgrn1	UTSW	16	4907409	missense	probably damaging	1.00
R1515:Mgrn1	UTSW	16	4915780	missense	probably benign	0.11
R1625:Mgrn1	UTSW	16	4910763	missense	probably damaging	1.00
R2875:Mgrn1	UTSW	16	4907416	missense	possibly damaging	0.85
R4928:Mgrn1	UTSW	16	4927862	missense	probably benign	0.29
R4955:Mgrn1	UTSW	16	4934219	missense	probably benign	0.00
R6085:Mgrn1	UTSW	16	4920376	missense	probably benign	0.01
R6189:Mgrn1	UTSW	16	4910810	critical splice donor site	probably null
R7095:Mgrn1	UTSW	16	4927664	splice site	probably null
R7293:Mgrn1	UTSW	16	4932220	missense	probably benign	0.01
R7610:Mgrn1	UTSW	16	4934233	makesense	probably null
R8187:Mgrn1	UTSW	16	4920365	missense	probably benign	0.02
R8376:Mgrn1	UTSW	16	4915766	missense	probably damaging	1.00
Z1177:Mgrn1	UTSW	16	4922724	missense	probably benign	0.17

Posted On

2015-04-16