Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:March6'

654062

Institutional Source

Beutler Lab

Gene Symbol

March6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane-associated ring finger (C3HC4) 6

Synonyms

F830029L24Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31455891-31531053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31482549 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 501 (I501T)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090227
AA Change: I501T

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: I501T

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	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
R8029:March6	UTSW	15	31496002	critical splice donor site	probably null
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
R8554:March6	UTSW	15	31482830	missense	probably damaging	1.00
R8893:March6	UTSW	15	31498704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGATAAATGACAGCTTTCCTAAG -3'
(R):5'- TTGTCAGTGGTAAGCAGGTC -3'

Sequencing Primer
(F):5'- GACAGCTTTCCTAAGTTTTAAGAACG -3'
(R):5'- AAAATCAAGGCATGCTACCTATTAG -3'

Posted On

2020-10-20