Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Marchf11'

97343

Institutional Source

Beutler Lab

Gene Symbol

Marchf11

Ensembl Gene

ENSMUSG00000022269

Gene Name

membrane associated ring-CH-type finger 11

Synonyms

March11

MMRRC Submission

039189-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26309134-26409662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26409381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 360 (L360P)

Ref Sequence

ENSEMBL: ENSMUSP00000118729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140840] [ENSMUST00000152841]

AlphaFold

Q8CBH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000140840
AA Change: L360P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: L360P

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
RINGv	167	214	4.81e-16	SMART
transmembrane domain	244	266	N/A	INTRINSIC
Blast:AAA	269	296	6e-7	BLAST
low complexity region	329	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152841

SMART Domains

Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
RINGv	167	214	4.81e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155819

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,506,792 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,349,017 (GRCm39)	P1028S	probably damaging	Het
Acad10	A	G	5: 121,768,814 (GRCm39)	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,314,172 (GRCm39)	Y705N	probably benign	Het
Adm	A	G	7: 110,227,501 (GRCm39)	I6V	probably benign	Het
Agps	T	G	2: 75,692,269 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,749,689 (GRCm39)	Q501*	probably null	Het
Cacna2d3	A	G	14: 28,786,278 (GRCm39)		probably benign	Het
Ccnt1	G	A	15: 98,442,219 (GRCm39)	R350W	probably damaging	Het
Cfap74	G	A	4: 155,518,453 (GRCm39)	E564K	probably benign	Het
Clip1	T	C	5: 123,717,554 (GRCm39)	E1250G	probably damaging	Het
Cryz	A	C	3: 154,327,240 (GRCm39)		probably benign	Het
Dnah1	C	A	14: 31,029,824 (GRCm39)	V494F	probably benign	Het
Dpep3	G	T	8: 106,705,461 (GRCm39)	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,056,919 (GRCm39)	A418V	probably damaging	Het
Ehf	T	A	2: 103,097,354 (GRCm39)	N231I	probably damaging	Het
Eif4g3	T	C	4: 137,819,086 (GRCm39)		probably null	Het
Ergic3	G	A	2: 155,858,707 (GRCm39)	V278M	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam178b	A	T	1: 36,617,669 (GRCm39)	C82*	probably null	Het
Gm1647	C	T	3: 69,064,205 (GRCm39)	Q31*	probably null	Het
Got1	T	A	19: 43,491,413 (GRCm39)	K346*	probably null	Het
Grid2ip	G	A	5: 143,368,669 (GRCm39)	G656D	possibly damaging	Het
Grm2	A	G	9: 106,525,126 (GRCm39)	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,295,978 (GRCm39)	I381T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mettl17	T	C	14: 52,127,055 (GRCm39)	V281A	probably benign	Het
Micu2	A	T	14: 58,191,657 (GRCm39)	D131E	probably benign	Het
Mug1	G	C	6: 121,847,604 (GRCm39)	V661L	probably benign	Het
Myo18b	A	T	5: 112,951,145 (GRCm39)	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,086,878 (GRCm39)	V51I	probably benign	Het
Nlgn1	A	C	3: 25,488,038 (GRCm39)	S766A	probably benign	Het
Or4d2b	T	A	11: 87,780,234 (GRCm39)	M163L	probably benign	Het
Otog	T	C	7: 45,950,025 (GRCm39)		probably benign	Het
Pax2	T	C	19: 44,745,863 (GRCm39)	S11P	probably damaging	Het
Pck2	A	G	14: 55,782,823 (GRCm39)	D392G	probably benign	Het
Plxnd1	A	T	6: 115,943,966 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,600,943 (GRCm39)	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,309,985 (GRCm39)	L149P	probably damaging	Het
Purg	A	T	8: 33,876,773 (GRCm39)	H137L	probably benign	Het
Slc38a8	A	T	8: 120,222,872 (GRCm39)	L150Q	probably damaging	Het
Tifab	T	A	13: 56,324,025 (GRCm39)	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,400,442 (GRCm39)	H353R	probably benign	Het
Ulbp3	A	T	10: 3,070,180 (GRCm39)		noncoding transcript	Het
Upk2	A	G	9: 44,365,086 (GRCm39)		probably null	Het
Zdhhc25	G	A	15: 88,484,823 (GRCm39)	V53I	probably benign	Het
Zfp738	T	A	13: 67,818,362 (GRCm39)		probably null	Het
Zfp810	C	T	9: 22,190,381 (GRCm39)	E176K	probably benign	Het
Zfp846	T	A	9: 20,504,559 (GRCm39)	W140R	possibly damaging	Het

Other mutations in Marchf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Marchf11	APN	15	26,409,285 (GRCm39)	missense	possibly damaging	0.93
IGL03079:Marchf11	APN	15	26,311,144 (GRCm39)	missense	probably damaging	1.00
R0625:Marchf11	UTSW	15	26,311,129 (GRCm39)	missense	probably damaging	0.99
R1055:Marchf11	UTSW	15	26,309,748 (GRCm39)	missense	probably damaging	0.99
R1851:Marchf11	UTSW	15	26,387,916 (GRCm39)	missense	probably damaging	1.00
R3862:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R3863:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R3864:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R4373:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4375:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4376:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4580:Marchf11	UTSW	15	26,311,189 (GRCm39)	missense	probably damaging	1.00
R6284:Marchf11	UTSW	15	26,409,432 (GRCm39)	missense	probably benign	0.36
R6710:Marchf11	UTSW	15	26,387,949 (GRCm39)	missense	probably damaging	1.00
R7490:Marchf11	UTSW	15	26,311,187 (GRCm39)	missense	possibly damaging	0.88
R7748:Marchf11	UTSW	15	26,387,916 (GRCm39)	missense	probably damaging	0.98
R7794:Marchf11	UTSW	15	26,409,284 (GRCm39)	missense	probably benign	0.09
R7937:Marchf11	UTSW	15	26,409,323 (GRCm39)	missense	probably damaging	0.99
R7942:Marchf11	UTSW	15	26,409,505 (GRCm39)	makesense	probably null
X0063:Marchf11	UTSW	15	26,387,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATGAAGGAGCTGCCGTTTAC -3'
(R):5'- GAATTGACCCACTTTGCTGTGCC -3'

Sequencing Primer
(F):5'- AGCTGCCGTTTACAGAGTG -3'
(R):5'- GGCCCTCATCCGATTGAATA -3'

Posted On

2014-01-05