Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Marchf6'

220375

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

MMRRC Submission

039996-MU

Accession Numbers

Essential gene?

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

Stock #

R1984 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31469792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 726 (L726Q)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

AlphaFold

Q6ZQ89

Predicted Effect

probably damaging
Transcript: ENSMUST00000090227
AA Change: L726Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: L726Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226868

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,778 (GRCm39)	L81H	probably damaging	Het
Abca8b	A	G	11: 109,868,667 (GRCm39)	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,671,868 (GRCm39)	E2242D	probably damaging	Het
Agap1	T	C	1: 89,694,045 (GRCm39)	S448P	probably benign	Het
Aldh1a2	T	C	9: 71,160,334 (GRCm39)	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,262,115 (GRCm39)	N205S	probably benign	Het
Anapc1	C	A	2: 128,511,608 (GRCm39)	G493C	possibly damaging	Het
Aox3	A	T	1: 58,192,220 (GRCm39)	I497F	possibly damaging	Het
Atp2b1	T	C	10: 98,850,354 (GRCm39)	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,164,928 (GRCm39)	R1129S	probably damaging	Het
Bche	T	A	3: 73,609,159 (GRCm39)	Q89L	probably benign	Het
Bche	G	T	3: 73,609,160 (GRCm39)	Q89K	probably benign	Het
Bcl9	T	C	3: 97,121,050 (GRCm39)	K171E	probably damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Dok6	T	C	18: 89,578,234 (GRCm39)	E61G	probably damaging	Het
Duxf4	T	A	10: 58,071,785 (GRCm39)	Q143L	possibly damaging	Het
Esf1	A	T	2: 139,990,806 (GRCm39)	D559E	possibly damaging	Het
F11r	A	G	1: 171,289,438 (GRCm39)	I254V	probably benign	Het
Fkrp	A	G	7: 16,545,802 (GRCm39)	V20A	probably benign	Het
Fscb	T	C	12: 64,521,457 (GRCm39)	E3G	unknown	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Igfn1	A	G	1: 135,889,782 (GRCm39)	S2422P	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Isg15	T	C	4: 156,284,250 (GRCm39)	I93V	probably benign	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Megf6	G	T	4: 154,352,124 (GRCm39)	G1210C	probably damaging	Het
Msh2	C	T	17: 88,026,724 (GRCm39)	T740I	probably damaging	Het
Myh14	T	C	7: 44,288,446 (GRCm39)	Y514C	probably damaging	Het
Myorg	C	A	4: 41,497,501 (GRCm39)	A710S	possibly damaging	Het
Nedd1	T	C	10: 92,550,022 (GRCm39)	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Obox1	A	T	7: 15,289,135 (GRCm39)	I17L	probably benign	Het
Or11g24	A	T	14: 50,662,848 (GRCm39)	I291L	possibly damaging	Het
Palb2	A	C	7: 121,726,303 (GRCm39)	H522Q	probably damaging	Het
Pde4c	C	T	8: 71,177,191 (GRCm39)	T6M	probably damaging	Het
Plekhg1	A	G	10: 3,908,181 (GRCm39)	K97E	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Qrich1	T	C	9: 108,411,246 (GRCm39)	V257A	probably damaging	Het
Rpl14	A	G	9: 120,401,253 (GRCm39)	D32G	possibly damaging	Het
Senp8	A	G	9: 59,644,721 (GRCm39)	V132A	possibly damaging	Het
Serac1	A	G	17: 6,095,964 (GRCm39)		probably null	Het
Sh2d3c	T	A	2: 32,639,256 (GRCm39)	C295*	probably null	Het
Stab1	A	G	14: 30,872,605 (GRCm39)	F1142L	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	G	15: 66,554,691 (GRCm39)	E702G	probably benign	Het
Tgif2lx2	A	T	X: 117,337,690 (GRCm39)	K218*	probably null	Het
Tpp1	C	A	7: 105,400,905 (GRCm39)	V41L	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp683	T	C	4: 133,784,766 (GRCm39)	F338L	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
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
R8893:Marchf6	UTSW	15	31,498,850 (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'- ACTTCAACAACTTTACATGGGTTCC -3'
(R):5'- GGTTGGATGACTCAGGTTATAAAG -3'

Sequencing Primer
(F):5'- CCTGCCAAGGGTAGAAAA -3'
(R):5'- TAAAGCTCTTGCCAAAGCTGG -3'

Posted On

2014-08-25