Mutagenetix > Incidental Mutation

Incidental Mutation 'R8893:Marchf6'

677853

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

MMRRC Submission

068696-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31498850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 149 (V149E)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

AlphaFold

Q6ZQ89

Predicted Effect

probably damaging
Transcript: ENSMUST00000090227
AA Change: V149E

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

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: V149E

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

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,274,511 (GRCm39)	D749G	probably benign	Het
Ank1	T	A	8: 23,598,241 (GRCm39)	I782N	probably damaging	Het
Arap2	T	A	5: 62,888,037 (GRCm39)	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,755,149 (GRCm39)	F269L	probably damaging	Het
Bivm	C	T	1: 44,158,439 (GRCm39)		probably benign	Het
Brsk1	A	T	7: 4,711,089 (GRCm39)	D603V	probably damaging	Het
C2cd3	C	T	7: 100,104,004 (GRCm39)	P2006S	probably benign	Het
Cacna1a	T	C	8: 85,313,764 (GRCm39)	F1513L	probably benign	Het
Cdin1	T	A	2: 115,505,265 (GRCm39)	S179T	probably benign	Het
Cep128	C	T	12: 91,263,006 (GRCm39)	E298K	probably damaging	Het
Cfap74	A	G	4: 155,531,152 (GRCm39)	T802A	unknown	Het
Cnbd2	G	A	2: 156,154,460 (GRCm39)	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Defa28	C	T	8: 22,073,840 (GRCm39)	T81I		Het
Dync1h1	A	G	12: 110,608,477 (GRCm39)	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,090,300 (GRCm39)	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,279,178 (GRCm39)	M236V	possibly damaging	Het
H2ac7	A	G	13: 23,758,664 (GRCm39)	Q7R	unknown	Het
Haus6	A	G	4: 86,501,364 (GRCm39)	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,097,512 (GRCm39)	K167I	possibly damaging	Het
Heatr5b	C	G	17: 79,069,424 (GRCm39)		probably benign	Het
Impdh1	G	A	6: 29,216,248 (GRCm39)		probably benign	Het
Iqgap3	T	C	3: 87,997,193 (GRCm39)	I192T	probably damaging	Het
Lama1	C	T	17: 68,112,367 (GRCm39)	A2269V		Het
Lamb3	A	G	1: 193,014,644 (GRCm39)	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,875,316 (GRCm39)	N569K	probably damaging	Het
Macf1	T	C	4: 123,304,323 (GRCm39)	S60G	probably benign	Het
Mcu	A	G	10: 59,287,078 (GRCm39)	S160P	probably benign	Het
Miga1	A	G	3: 151,982,294 (GRCm39)	L594P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Ndst2	A	G	14: 20,774,830 (GRCm39)	I791T	probably benign	Het
Nebl	A	T	2: 17,735,671 (GRCm39)	M1K	probably null	Het
Or2bd2	T	C	7: 6,443,285 (GRCm39)	C129R	probably damaging	Het
Or5c1	A	G	2: 37,222,388 (GRCm39)	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,344,708 (GRCm39)	D90V	probably damaging	Het
Pank1	A	T	19: 34,804,903 (GRCm39)		probably benign	Het
Pcdhac2	T	A	18: 37,277,071 (GRCm39)	L17Q	probably benign	Het
Pde3a	A	T	6: 141,405,522 (GRCm39)	D458V	probably damaging	Het
Pgm1	T	G	4: 99,824,297 (GRCm39)	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pigw	A	T	11: 84,767,961 (GRCm39)	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxnc1	T	A	10: 94,685,709 (GRCm39)	I761L	probably benign	Het
Pramel22	A	T	4: 143,382,060 (GRCm39)	M212K	probably damaging	Het
Prkaca	A	G	8: 84,717,151 (GRCm39)	N172D	probably damaging	Het
Rab3b	A	C	4: 108,797,925 (GRCm39)	D192A	probably benign	Het
Rims2	T	C	15: 39,398,350 (GRCm39)	L1105P	probably benign	Het
Rinl	T	A	7: 28,491,747 (GRCm39)	I100N	probably damaging	Het
Rnf13	T	G	3: 57,714,520 (GRCm39)	I193S	probably damaging	Het
Rnf213	A	G	11: 119,333,868 (GRCm39)	I3027V		Het
Sik2	A	T	9: 50,810,026 (GRCm39)	S512R	probably damaging	Het
Snx17	A	G	5: 31,353,887 (GRCm39)	Y225C	probably damaging	Het
Spata13	A	T	14: 60,987,524 (GRCm39)	D894V	probably damaging	Het
Spx	A	G	6: 142,360,543 (GRCm39)	D65G	probably damaging	Het
Syne1	G	T	10: 5,299,020 (GRCm39)	S1022*	probably null	Het
Tchh	C	T	3: 93,354,957 (GRCm39)	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,254,302 (GRCm39)	L292P	probably damaging	Het
Vmn2r10	T	C	5: 109,143,677 (GRCm39)	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,488,619 (GRCm39)	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,424,306 (GRCm39)	S4P	probably damaging	Het

Other mutations in Marchf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Marchf6	APN	15	31,475,909 (GRCm39)	missense	probably benign	0.00
IGL00902:Marchf6	APN	15	31,485,124 (GRCm39)	missense	probably damaging	1.00
IGL02352:Marchf6	APN	15	31,509,905 (GRCm39)	missense	probably damaging	1.00
IGL02359:Marchf6	APN	15	31,509,905 (GRCm39)	missense	probably damaging	1.00
IGL02565:Marchf6	APN	15	31,490,712 (GRCm39)	splice site	probably benign
IGL02735:Marchf6	APN	15	31,486,266 (GRCm39)	missense	probably benign	0.00
IGL02808:Marchf6	APN	15	31,478,552 (GRCm39)	missense	probably benign	0.32
IGL03122:Marchf6	APN	15	31,478,439 (GRCm39)	critical splice donor site	probably null
IGL03235:Marchf6	APN	15	31,486,141 (GRCm39)	missense	probably damaging	1.00
IGL03238:Marchf6	APN	15	31,462,087 (GRCm39)	critical splice donor site	probably benign
IGL03263:Marchf6	APN	15	31,486,508 (GRCm39)	missense	probably benign	0.01
ideation	UTSW	15	31,482,650 (GRCm39)	missense	possibly damaging	0.95
R0003:Marchf6	UTSW	15	31,469,678 (GRCm39)	splice site	probably benign
R0056:Marchf6	UTSW	15	31,467,880 (GRCm39)	missense	possibly damaging	0.68
R0115:Marchf6	UTSW	15	31,475,958 (GRCm39)	missense	probably benign
R0126:Marchf6	UTSW	15	31,462,151 (GRCm39)	missense	probably benign	0.00
R0148:Marchf6	UTSW	15	31,490,758 (GRCm39)	missense	probably damaging	0.99
R0744:Marchf6	UTSW	15	31,480,437 (GRCm39)	missense	probably benign	0.00
R0833:Marchf6	UTSW	15	31,480,437 (GRCm39)	missense	probably benign	0.00
R1205:Marchf6	UTSW	15	31,469,819 (GRCm39)	missense	probably benign	0.01
R1339:Marchf6	UTSW	15	31,486,548 (GRCm39)	missense	probably benign	0.12
R1485:Marchf6	UTSW	15	31,498,839 (GRCm39)	missense	probably damaging	0.96
R1885:Marchf6	UTSW	15	31,502,952 (GRCm39)	missense	probably benign	0.00
R1889:Marchf6	UTSW	15	31,459,339 (GRCm39)	missense	possibly damaging	0.86
R1984:Marchf6	UTSW	15	31,469,792 (GRCm39)	missense	probably damaging	0.99
R2007:Marchf6	UTSW	15	31,462,087 (GRCm39)	critical splice donor site	probably null
R2046:Marchf6	UTSW	15	31,486,580 (GRCm39)	missense	probably benign	0.01
R2135:Marchf6	UTSW	15	31,509,910 (GRCm39)	nonsense	probably null
R3116:Marchf6	UTSW	15	31,486,265 (GRCm39)	missense	probably benign	0.00
R3710:Marchf6	UTSW	15	31,509,972 (GRCm39)	splice site	probably benign
R3715:Marchf6	UTSW	15	31,465,405 (GRCm39)	missense	probably benign	0.00
R3749:Marchf6	UTSW	15	31,462,160 (GRCm39)	missense	probably benign	0.00
R3944:Marchf6	UTSW	15	31,488,960 (GRCm39)	missense	probably benign	0.00
R4327:Marchf6	UTSW	15	31,498,887 (GRCm39)	missense	probably benign	0.17
R4329:Marchf6	UTSW	15	31,498,887 (GRCm39)	missense	probably benign	0.17
R5001:Marchf6	UTSW	15	31,465,468 (GRCm39)	missense	probably damaging	0.98
R5149:Marchf6	UTSW	15	31,462,140 (GRCm39)	missense	possibly damaging	0.53
R5654:Marchf6	UTSW	15	31,486,082 (GRCm39)	missense	probably damaging	1.00
R6163:Marchf6	UTSW	15	31,465,497 (GRCm39)	missense	probably benign
R6172:Marchf6	UTSW	15	31,483,013 (GRCm39)	missense	possibly damaging	0.86
R6381:Marchf6	UTSW	15	31,467,838 (GRCm39)	missense	probably benign	0.01
R6888:Marchf6	UTSW	15	31,459,379 (GRCm39)	missense	probably benign	0.00
R7347:Marchf6	UTSW	15	31,486,505 (GRCm39)	missense	probably benign	0.00
R8029:Marchf6	UTSW	15	31,496,148 (GRCm39)	critical splice donor site	probably null
R8316:Marchf6	UTSW	15	31,482,650 (GRCm39)	missense	possibly damaging	0.95
R8342:Marchf6	UTSW	15	31,494,262 (GRCm39)	missense	possibly damaging	0.91
R8431:Marchf6	UTSW	15	31,505,892 (GRCm39)	nonsense	probably null
R8437:Marchf6	UTSW	15	31,482,695 (GRCm39)	missense	possibly damaging	0.69
R8554:Marchf6	UTSW	15	31,482,976 (GRCm39)	missense	probably damaging	1.00
R9523:Marchf6	UTSW	15	31,498,845 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATGTGCTGCCCCTGTAAG -3'
(R):5'- TTAGCCATGCTAAAAGAATAGGGTG -3'

Sequencing Primer
(F):5'- CCCTGTAAGGCACATGGC -3'
(R):5'- CCATGCTAAAAGAATAGGGTGGATAG -3'

Posted On

2021-08-02