Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:March6'

617853

Institutional Source

Beutler Lab

Gene Symbol

March6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane-associated ring finger (C3HC4) 6

Synonyms

F830029L24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31455891-31531053 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 31496002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090227]

AlphaFold

Q6ZQ89

Predicted Effect

probably null
Transcript: ENSMUST00000090227

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100

Domain	Start	End	E-Value	Type
RINGv	8	56	1.13e-21	SMART
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
low complexity region	223	259	N/A	INTRINSIC
transmembrane domain	290	312	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
transmembrane domain	367	389	N/A	INTRINSIC
transmembrane domain	420	442	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC
transmembrane domain	522	540	N/A	INTRINSIC
low complexity region	574	599	N/A	INTRINSIC
transmembrane domain	633	655	N/A	INTRINSIC
transmembrane domain	675	697	N/A	INTRINSIC
transmembrane domain	720	742	N/A	INTRINSIC
transmembrane domain	762	784	N/A	INTRINSIC
transmembrane domain	805	827	N/A	INTRINSIC
transmembrane domain	847	866	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Nudt9	C	T	5: 104,050,611		probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	probably damaging	Het

Other mutations in March6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:March6	APN	15	31475763	missense	probably benign	0.00
IGL00902:March6	APN	15	31484978	missense	probably damaging	1.00
IGL02352:March6	APN	15	31509759	missense	probably damaging	1.00
IGL02359:March6	APN	15	31509759	missense	probably damaging	1.00
IGL02565:March6	APN	15	31490566	splice site	probably benign
IGL02735:March6	APN	15	31486120	missense	probably benign	0.00
IGL02808:March6	APN	15	31478406	missense	probably benign	0.32
IGL03122:March6	APN	15	31478293	critical splice donor site	probably null
IGL03235:March6	APN	15	31485995	missense	probably damaging	1.00
IGL03238:March6	APN	15	31461941	critical splice donor site	probably benign
IGL03263:March6	APN	15	31486362	missense	probably benign	0.01
ideation	UTSW	15	31482504	missense	possibly damaging	0.95
R0003:March6	UTSW	15	31469532	splice site	probably benign
R0056:March6	UTSW	15	31467734	missense	possibly damaging	0.68
R0115:March6	UTSW	15	31475812	missense	probably benign
R0126:March6	UTSW	15	31462005	missense	probably benign	0.00
R0148:March6	UTSW	15	31490612	missense	probably damaging	0.99
R0744:March6	UTSW	15	31480291	missense	probably benign	0.00
R0833:March6	UTSW	15	31480291	missense	probably benign	0.00
R1205:March6	UTSW	15	31469673	missense	probably benign	0.01
R1339:March6	UTSW	15	31486402	missense	probably benign	0.12
R1485:March6	UTSW	15	31498693	missense	probably damaging	0.96
R1885:March6	UTSW	15	31502806	missense	probably benign	0.00
R1889:March6	UTSW	15	31459193	missense	possibly damaging	0.86
R1984:March6	UTSW	15	31469646	missense	probably damaging	0.99
R2007:March6	UTSW	15	31461941	critical splice donor site	probably null
R2046:March6	UTSW	15	31486434	missense	probably benign	0.01
R2135:March6	UTSW	15	31509764	nonsense	probably null
R3116:March6	UTSW	15	31486119	missense	probably benign	0.00
R3710:March6	UTSW	15	31509826	splice site	probably benign
R3715:March6	UTSW	15	31465259	missense	probably benign	0.00
R3749:March6	UTSW	15	31462014	missense	probably benign	0.00
R3944:March6	UTSW	15	31488814	missense	probably benign	0.00
R4327:March6	UTSW	15	31498741	missense	probably benign	0.17
R4329:March6	UTSW	15	31498741	missense	probably benign	0.17
R5001:March6	UTSW	15	31465322	missense	probably damaging	0.98
R5149:March6	UTSW	15	31461994	missense	possibly damaging	0.53
R5654:March6	UTSW	15	31485936	missense	probably damaging	1.00
R6163:March6	UTSW	15	31465351	missense	probably benign
R6172:March6	UTSW	15	31482867	missense	possibly damaging	0.86
R6381:March6	UTSW	15	31467692	missense	probably benign	0.01
R6888:March6	UTSW	15	31459233	missense	probably benign	0.00
R7347:March6	UTSW	15	31486359	missense	probably benign	0.00
R8316:March6	UTSW	15	31482504	missense	possibly damaging	0.95
R8342:March6	UTSW	15	31494116	missense	possibly damaging	0.91
R8431:March6	UTSW	15	31505746	nonsense	probably null
R8437:March6	UTSW	15	31482549	missense	possibly damaging	0.69
R8554:March6	UTSW	15	31482830	missense	probably damaging	1.00
R8893:March6	UTSW	15	31498704	missense	probably damaging	1.00
R9523:March6	UTSW	15	31498699	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTTCCCTCTTTCACAGAAAGC -3'
(R):5'- AAGTGAATTCCTGGGCTTTTCTC -3'

Sequencing Primer
(F):5'- TCCCTCTTTCACAGAAAGCAACTTAC -3'
(R):5'- CCTGTAGGAGGAAATGGTGC -3'

Posted On

2020-01-23