Mutagenetix > Incidental Mutation

Incidental Mutation 'R8187:Mgrn1'

634941

Institutional Source

Beutler Lab

Gene Symbol

Mgrn1

Ensembl Gene

ENSMUSG00000022517

Gene Name

mahogunin, ring finger 1

Synonyms

nc, 2610042J20Rik

MMRRC Submission

067610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4704113-4756160 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4738229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 261 (N261S)

Ref Sequence

ENSEMBL: ENSMUSP00000023159 (fasta)

Gene Model

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

AlphaFold

Q9D074

Predicted Effect

probably benign
Transcript: ENSMUST00000023159
AA Change: N261S

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

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

possibly damaging
Transcript: ENSMUST00000070658
AA Change: N260S

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: N260S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,115,913 (GRCm39)	*122L	probably null	Het
4930438A08Rik	A	G	11: 58,180,548 (GRCm39)	S200G		Het
Adgre1	T	A	17: 57,727,349 (GRCm39)	S426R	probably benign	Het
Adgrg1	A	G	8: 95,732,446 (GRCm39)	E229G	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef39	A	T	4: 43,498,999 (GRCm39)	L84Q	probably damaging	Het
Bpifb9a	A	G	2: 154,111,377 (GRCm39)	I544V	probably benign	Het
Brwd1	A	T	16: 95,803,934 (GRCm39)	L2079I	probably damaging	Het
Ccnh	T	A	13: 85,337,656 (GRCm39)	M1K	probably null	Het
Cdh16	T	C	8: 105,344,870 (GRCm39)	N415S	probably damaging	Het
Chuk	T	C	19: 44,079,551 (GRCm39)	N317D	probably benign	Het
Cnot10	A	T	9: 114,426,556 (GRCm39)	C665*	probably null	Het
Csmd1	G	T	8: 16,177,188 (GRCm39)	H1358Q	probably damaging	Het
Cyp4f37	T	C	17: 32,854,171 (GRCm39)	V540A	probably benign	Het
Daam1	A	G	12: 71,942,602 (GRCm39)	D22G	unknown	Het
Dhdds	A	G	4: 133,727,679 (GRCm39)		probably benign	Het
Dnah5	T	C	15: 28,384,355 (GRCm39)	V3033A	probably damaging	Het
Dync1i2	A	G	2: 71,044,865 (GRCm39)	K25R	probably benign	Het
Efhc1	T	A	1: 21,030,396 (GRCm39)	S110T	probably damaging	Het
Emilin3	T	C	2: 160,750,000 (GRCm39)	N583S	possibly damaging	Het
Eri2	A	G	7: 119,384,767 (GRCm39)	V578A	probably damaging	Het
F2rl2	A	T	13: 95,837,911 (GRCm39)	I319L	probably benign	Het
Gjd3	A	C	11: 102,691,381 (GRCm39)	Y207*	probably null	Het
Gm19965	T	A	1: 116,749,532 (GRCm39)	C404*	probably null	Het
Gm2832	A	T	14: 41,000,915 (GRCm39)	H51L		Het
Gpam	T	C	19: 55,066,269 (GRCm39)	T631A	probably benign	Het
Hdac2	T	C	10: 36,864,132 (GRCm39)	S114P	probably damaging	Het
Hsd3b1	T	A	3: 98,759,933 (GRCm39)	T353S	probably damaging	Het
Idh1	T	C	1: 65,198,700 (GRCm39)	D390G	probably damaging	Het
Il36g	T	G	2: 24,082,617 (GRCm39)	L131V	probably damaging	Het
Irs1	G	T	1: 82,266,021 (GRCm39)	P732T	probably damaging	Het
Kansl1l	T	A	1: 66,840,896 (GRCm39)	I135F	possibly damaging	Het
Mcc	A	G	18: 44,667,327 (GRCm39)	V208A	possibly damaging	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nr1h5	G	T	3: 102,861,986 (GRCm39)	H94Q	probably benign	Het
Nsmce4a	A	G	7: 130,144,519 (GRCm39)	V128A	probably benign	Het
Or5w14	T	G	2: 87,541,624 (GRCm39)	S209R	probably benign	Het
Or6y1	TTGTGTG	TTGTG	1: 174,276,838 (GRCm39)		probably null	Het
Osmr	T	A	15: 6,850,485 (GRCm39)	Y707F	probably damaging	Het
Pck1	G	T	2: 172,997,033 (GRCm39)	R225L	probably benign	Het
Prom1	A	T	5: 44,191,708 (GRCm39)	L354Q	probably damaging	Het
Rev3l	C	A	10: 39,682,693 (GRCm39)	Q300K	probably benign	Het
Rin3	T	A	12: 102,292,066 (GRCm39)	C88S	unknown	Het
Slc37a4	T	C	9: 44,311,291 (GRCm39)	V194A	possibly damaging	Het
Smpd4	T	A	16: 17,446,999 (GRCm39)	H242Q	probably damaging	Het
Spen	T	C	4: 141,200,216 (GRCm39)	I2804V	possibly damaging	Het
Srrm4	A	C	5: 116,587,680 (GRCm39)	F359L	unknown	Het
Svs5	A	G	2: 164,079,692 (GRCm39)	Y72H	possibly damaging	Het
Tmem158	T	A	9: 123,088,875 (GRCm39)	T246S	unknown	Het
Ttn	A	G	2: 76,633,735 (GRCm39)	V14038A	probably benign	Het
Ttn	A	G	2: 76,559,790 (GRCm39)	I29537T	probably damaging	Het
Ttn	A	G	2: 76,626,069 (GRCm39)	S14997P	probably damaging	Het
Vmn1r231	A	T	17: 21,110,893 (GRCm39)	D7E	probably benign	Het
Vmn2r14	A	G	5: 109,368,420 (GRCm39)	S191P	probably benign	Het
Zfp599	G	T	9: 22,161,111 (GRCm39)	Y351*	probably null	Het
Zfp729a	T	A	13: 67,769,918 (GRCm39)	K104*	probably null	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
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'- GTCTCACAGACTTTCTAGCCAC -3'
(R):5'- GCTTCAGCTGCTGTTTTCAAG -3'

Sequencing Primer
(F):5'- TAGCCACAGTTTCCCTGGG -3'
(R):5'- GCTGTTTTCAAGTAGTCAGTCACAG -3'

Posted On

2020-07-13