Mutagenetix > Incidental Mutation

Incidental Mutation 'R6888:Marchf6'

537072

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

MMRRC Submission

044982-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R6888 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31459379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 896 (K896E)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

AlphaFold

Q6ZQ89

Predicted Effect

probably benign
Transcript: ENSMUST00000090227
AA Change: K896E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: K896E

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: 99.4%
20x: 98.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	T	C	11: 120,238,141 (GRCm39)	Y190C	probably damaging	Het
Adgrv1	A	G	13: 81,656,788 (GRCm39)	I2902T	probably damaging	Het
AI429214	G	A	8: 37,460,987 (GRCm39)	G45D	possibly damaging	Het
Ambra1	A	G	2: 91,599,372 (GRCm39)	D164G	probably damaging	Het
Ap3b1	A	T	13: 94,545,299 (GRCm39)	Q184L	probably benign	Het
Arhgef17	T	C	7: 100,580,027 (GRCm39)	D307G	possibly damaging	Het
AY761185	A	T	8: 21,434,571 (GRCm39)	Y52*	probably null	Het
Bfsp1	A	G	2: 143,668,639 (GRCm39)	S647P	probably benign	Het
C130073F10Rik	A	G	4: 101,747,453 (GRCm39)	V192A	probably benign	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Ccdc170	T	C	10: 4,496,854 (GRCm39)	V458A	possibly damaging	Het
Ccdc187	G	A	2: 26,179,746 (GRCm39)	R238W	probably damaging	Het
Cdh1	A	G	8: 107,384,946 (GRCm39)	S380G	probably benign	Het
Cdk5rap3	T	C	11: 96,807,018 (GRCm39)	H4R	probably benign	Het
Cftr	G	A	6: 18,313,729 (GRCm39)		probably null	Het
Cstpp1	A	G	2: 91,252,239 (GRCm39)	Y41H	probably damaging	Het
Dnajc16	A	G	4: 141,504,303 (GRCm39)	V219A	probably benign	Het
Drd3	A	T	16: 43,637,502 (GRCm39)	I266F	probably benign	Het
Dut	A	G	2: 125,099,044 (GRCm39)	D177G	probably benign	Het
Esr1	A	G	10: 4,807,076 (GRCm39)	I331V	probably benign	Het
Gm11110	A	G	17: 57,409,143 (GRCm39)		probably benign	Het
Grm7	G	T	6: 111,335,314 (GRCm39)	G575V	possibly damaging	Het
Heatr3	A	G	8: 88,897,512 (GRCm39)	Y531C	probably damaging	Het
Igfn1	A	G	1: 135,910,218 (GRCm39)	V122A	probably benign	Het
Igsf21	T	C	4: 139,762,054 (GRCm39)	D208G	probably benign	Het
Kntc1	T	C	5: 123,949,373 (GRCm39)	Y1915H	probably damaging	Het
Lamc1	A	T	1: 153,138,238 (GRCm39)	D205E	probably damaging	Het
Limch1	C	T	5: 67,179,269 (GRCm39)	T713I	probably benign	Het
Lrp1b	A	G	2: 41,361,138 (GRCm39)	I555T	probably benign	Het
Lrp2	A	T	2: 69,354,485 (GRCm39)	F448I	probably damaging	Het
Mroh4	T	C	15: 74,485,098 (GRCm39)	Y469C	possibly damaging	Het
Niban3	G	T	8: 72,056,383 (GRCm39)	R361L	probably benign	Het
Nos3	T	C	5: 24,588,333 (GRCm39)	V1060A	possibly damaging	Het
Nr1h4	A	G	10: 89,292,404 (GRCm39)	I406T	probably damaging	Het
Odf2l	T	C	3: 144,854,379 (GRCm39)		probably null	Het
Or2y15	A	T	11: 49,351,087 (GRCm39)	T194S	probably damaging	Het
Or5d14	A	G	2: 87,880,608 (GRCm39)	M120T	probably damaging	Het
Pals2	T	G	6: 50,157,257 (GRCm39)		probably null	Het
Pbx2	A	G	17: 34,813,081 (GRCm39)	Y119C	possibly damaging	Het
Pdcd6ip	C	A	9: 113,500,905 (GRCm39)	A526S	probably benign	Het
Prx	G	A	7: 27,219,059 (GRCm39)	D1187N	possibly damaging	Het
Ptpro	G	A	6: 137,357,198 (GRCm39)	V230I	probably benign	Het
Rtn3	C	T	19: 7,434,614 (GRCm39)	M440I	probably benign	Het
Sar1b	T	C	11: 51,679,019 (GRCm39)	I96T	probably damaging	Het
Sds	T	C	5: 120,618,965 (GRCm39)		probably null	Het
Secisbp2	A	G	13: 51,833,977 (GRCm39)	T706A	probably benign	Het
Sorcs3	A	T	19: 48,682,263 (GRCm39)	M433L	possibly damaging	Het
Sppl2a	A	G	2: 126,746,912 (GRCm39)	V472A	probably damaging	Het
Tbc1d9	A	G	8: 83,998,217 (GRCm39)	E1258G	possibly damaging	Het
Tbxas1	C	A	6: 38,929,008 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,568,095 (GRCm39)	I1333T	probably damaging	Het
Tmem108	C	T	9: 103,376,915 (GRCm39)	G178D	probably damaging	Het
Tmem174	A	G	13: 98,773,569 (GRCm39)	L87P	probably damaging	Het
Tmppe	T	A	9: 114,233,769 (GRCm39)	S23T	probably damaging	Het
Ttn	G	A	2: 76,591,447 (GRCm39)	T21074I	probably benign	Het
Tub	A	G	7: 108,628,505 (GRCm39)	M338V	probably null	Het
Vmn1r160	A	T	7: 22,571,531 (GRCm39)	R295*	probably null	Het
Vps52	T	C	17: 34,182,180 (GRCm39)	V518A	probably benign	Het
Wdr59	A	G	8: 112,177,675 (GRCm39)	V909A	probably benign	Het
Wnk1	T	C	6: 119,925,742 (GRCm39)	T1241A	probably benign	Het
Zfp882	G	A	8: 72,668,130 (GRCm39)	C319Y	probably benign	Het
Znfx1	A	T	2: 166,880,860 (GRCm39)	I308N	possibly 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
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'- AGCAGTGATGTCGGCAGATG -3'
(R):5'- CTAGCCTGCCTCTTGAAAGG -3'

Sequencing Primer
(F):5'- CTCTCTGAATGCTGAGGAGAC -3'
(R):5'- GCCTCTTGAAAGGTTGCTAGTAAGC -3'

Posted On

2018-10-18