Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Marchf6'

77674

Institutional Source

Beutler Lab

Gene Symbol

Marchf6

Ensembl Gene

ENSMUSG00000039100

Gene Name

membrane associated ring-CH-type finger 6

Synonyms

March6, F830029L24Rik

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

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

Stock #

R0833 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

31456045-31531172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31480437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 562 (Y562C)

Ref Sequence

ENSEMBL: ENSMUSP00000087694 (fasta)

Gene Model

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

AlphaFold

Q6ZQ89

Predicted Effect

probably benign
Transcript: ENSMUST00000090227
AA Change: Y562C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100
AA Change: Y562C

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: ENSMUST00000227757

Meta Mutation Damage Score

0.3116

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,679,607 (GRCm39)	V390M	probably damaging	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Arl2	T	G	19: 6,186,052 (GRCm39)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fam219b	A	G	9: 57,445,299 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Gm14496	T	C	2: 181,638,059 (GRCm39)	W378R	probably damaging	Het
Gm57858	A	G	3: 36,074,362 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,058,611 (GRCm39)		noncoding transcript	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,339,385 (GRCm39)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,178 (GRCm39)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,609,019 (GRCm39)		probably null	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Meis1	G	A	11: 18,831,767 (GRCm39)	H424Y	possibly damaging	Het
Mst1r	A	G	9: 107,791,975 (GRCm39)	N837S	probably benign	Het
Mst1r	G	A	9: 107,790,366 (GRCm39)	V660I	probably benign	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or51g1	C	A	7: 102,634,043 (GRCm39)	L109F	possibly damaging	Het
Or8b12b	T	C	9: 37,684,372 (GRCm39)	V139A	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel18	G	A	4: 101,767,294 (GRCm39)	C181Y	probably damaging	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm39)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,102,483 (GRCm39)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,128,748 (GRCm39)	C25*	probably null	Het
Ugt3a1	A	G	15: 9,370,236 (GRCm39)	D460G	probably damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,209,694 (GRCm39)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Zng1	A	G	19: 24,918,203 (GRCm39)		probably benign	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
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
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'- TCGAGTGGAACACAGAACACACTTC -3'
(R):5'- GCACAAGTGAGCATCACAGCATGG -3'

Sequencing Primer
(F):5'- gctcagcactaagaagactagg -3'
(R):5'- ggagagaatgggaggaaagg -3'

Posted On

2013-10-16