Mutagenetix > Incidental Mutation

Incidental Mutation 'R6163:Marchf6'

490003

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

Accession Numbers

Essential gene?

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

Stock #

R6163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 31465497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 802 (H802Q)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

AlphaFold

Q6ZQ89

Predicted Effect

probably benign
Transcript: ENSMUST00000090227
AA Change: H802Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: H802Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227135

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,098 (GRCm39)	Q228*	probably null	Het
Asic5	A	G	3: 81,913,833 (GRCm39)	N169S	probably damaging	Het
Atad2b	T	A	12: 5,004,593 (GRCm39)	L374H	probably benign	Het
Birc2	G	A	9: 7,819,036 (GRCm39)	T544I	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Cc2d2b	C	T	19: 40,744,950 (GRCm39)	T23I	probably benign	Het
Ccdc137	G	T	11: 120,350,927 (GRCm39)	R108L	possibly damaging	Het
Cenpe	T	C	3: 134,974,764 (GRCm39)	I2308T	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cpt1b	T	C	15: 89,308,620 (GRCm39)	T103A	probably benign	Het
Cpvl	C	A	6: 53,850,503 (GRCm39)	V445F	probably damaging	Het
Cttnbp2	A	G	6: 18,434,950 (GRCm39)	S303P	possibly damaging	Het
Cyp17a1	T	A	19: 46,657,761 (GRCm39)	I264F	possibly damaging	Het
Cyp51	T	A	5: 4,150,199 (GRCm39)	I175F	probably damaging	Het
Dennd4c	C	T	4: 86,723,828 (GRCm39)	P695S	possibly damaging	Het
Dlgap2	A	T	8: 14,896,641 (GRCm39)	Q1039L	probably damaging	Het
Dnah14	T	C	1: 181,493,926 (GRCm39)	L1694P	probably benign	Het
Dnah2	G	A	11: 69,411,729 (GRCm39)	Q298*	probably null	Het
Dsg2	G	T	18: 20,731,726 (GRCm39)		probably null	Het
Esr2	A	C	12: 76,168,643 (GRCm39)	V522G	probably damaging	Het
Fmo9	T	A	1: 166,494,962 (GRCm39)	H262L	probably benign	Het
Glb1l	T	A	1: 75,178,051 (GRCm39)	M373L	probably benign	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gm37240	T	A	3: 84,423,092 (GRCm39)	E213D	probably damaging	Het
Gmip	T	A	8: 70,270,022 (GRCm39)	V675E	probably benign	Het
Grb10	C	A	11: 11,893,932 (GRCm39)	E330*	probably null	Het
H2ac13	A	T	13: 21,900,859 (GRCm39)	N90Y	probably damaging	Het
Hivep2	A	G	10: 14,005,736 (GRCm39)	K778R	probably damaging	Het
Ighv1-26	T	C	12: 114,752,416 (GRCm39)	S4G	probably benign	Het
Igkv3-3	T	A	6: 70,664,257 (GRCm39)	V33E	possibly damaging	Het
Itga2	C	A	13: 115,002,726 (GRCm39)	G588V	probably damaging	Het
Itpr1	C	T	6: 108,365,245 (GRCm39)	H58Y	probably damaging	Het
Jmjd1c	T	A	10: 67,083,827 (GRCm39)	D2365E	possibly damaging	Het
Limk1	T	C	5: 134,686,809 (GRCm39)	Y518C	probably damaging	Het
Mark2	A	G	19: 7,268,126 (GRCm39)	S26P	probably benign	Het
Mdn1	T	A	4: 32,716,040 (GRCm39)	L2074Q	probably damaging	Het
Mrpl37	T	C	4: 106,921,793 (GRCm39)	E174G	possibly damaging	Het
Mtcl1	T	C	17: 66,686,326 (GRCm39)	H860R	probably benign	Het
Neurod1	A	G	2: 79,284,505 (GRCm39)	F293L	probably benign	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Nwd2	C	A	5: 63,963,131 (GRCm39)	A905E	probably benign	Het
Or14a260	A	T	7: 85,985,592 (GRCm39)	I4N	possibly damaging	Het
Or1x6	T	A	11: 50,939,595 (GRCm39)	Y220*	probably null	Het
Or5b12b	A	C	19: 12,861,472 (GRCm39)	T76P	probably damaging	Het
Or7e169	A	G	9: 19,757,024 (GRCm39)	I297T	probably benign	Het
Otop1	C	A	5: 38,445,234 (GRCm39)		probably null	Het
Otp	A	G	13: 95,012,288 (GRCm39)	H4R	probably damaging	Het
P4htm	A	C	9: 108,459,150 (GRCm39)	Y261D	probably damaging	Het
Pcsk5	A	T	19: 17,450,405 (GRCm39)	C1148S	probably damaging	Het
Plekhg1	A	T	10: 3,914,369 (GRCm39)	R1419W	probably damaging	Het
Pramel20	A	G	4: 143,298,605 (GRCm39)	K183E	probably damaging	Het
Prkd3	C	A	17: 79,273,784 (GRCm39)	D491Y	possibly damaging	Het
Prr11	A	C	11: 86,994,454 (GRCm39)	L64R	possibly damaging	Het
Pygo1	G	T	9: 72,851,980 (GRCm39)	A56S	probably damaging	Het
Rexo5	A	G	7: 119,404,470 (GRCm39)	T189A	probably damaging	Het
Rnf213	A	T	11: 119,349,254 (GRCm39)	H3784L	possibly damaging	Het
Rps6ka5	T	G	12: 100,562,179 (GRCm39)		probably null	Het
Slco2b1	T	A	7: 99,338,106 (GRCm39)	I93F	probably damaging	Het
Slfn8	T	C	11: 82,894,690 (GRCm39)	*408W	probably null	Het
Sptbn1	C	A	11: 30,109,443 (GRCm39)	E51*	probably null	Het
Ssc5d	T	A	7: 4,930,253 (GRCm39)	H111Q	probably damaging	Het
Sult1c2	T	C	17: 54,280,981 (GRCm39)	N41D	probably benign	Het
Taar8c	G	A	10: 23,977,116 (GRCm39)	T232I	probably benign	Het
Tdo2	T	C	3: 81,882,710 (GRCm39)	E2G	possibly damaging	Het
Tff2	T	C	17: 31,363,152 (GRCm39)	E24G	probably benign	Het
Tjp2	C	A	19: 24,103,068 (GRCm39)		probably null	Het
Tnfrsf1b	A	T	4: 144,946,477 (GRCm39)	D311E	probably benign	Het
Usp15	G	T	10: 123,004,210 (GRCm39)	N181K	probably damaging	Het
Vmn1r175	T	G	7: 23,508,591 (GRCm39)	E12A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,773 (GRCm39)	S302P	probably damaging	Het
Vmn2r58	A	G	7: 41,486,825 (GRCm39)	M690T	probably benign	Het
Wee1	T	A	7: 109,734,858 (GRCm39)	H465Q	probably damaging	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
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'- AGAAGTAGGCTATTCTAAACAGCC -3'
(R):5'- TCACTCGGTTAGAACTGTACTATCTG -3'

Sequencing Primer
(F):5'- CAGCAAACTCTGTTTTGAACTTTGTG -3'
(R):5'- ATAATTAGGGTTTCCTGAGTGCCAC -3'

Posted On

2017-10-10