Mutagenetix > Incidental Mutation

Incidental Mutation 'R4373:Marchf11'

326079

Institutional Source

Beutler Lab

Gene Symbol

Marchf11

Ensembl Gene

ENSMUSG00000022269

Gene Name

membrane associated ring-CH-type finger 11

Synonyms

March11

MMRRC Submission

041675-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R4373 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

26309048-26409576 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26309446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 62 (E62G)

Ref Sequence

ENSEMBL: ENSMUSP00000120622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126304] [ENSMUST00000140840] [ENSMUST00000152841]

AlphaFold

Q8CBH7

Predicted Effect

probably benign
Transcript: ENSMUST00000126304
AA Change: E62G

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000140840
AA Change: E62G

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: E62G

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 damaging
Transcript: ENSMUST00000152841
AA Change: E62G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
AA Change: E62G

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

Meta Mutation Damage Score

0.1361

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,594,335 (GRCm38)		probably benign	Het
Akr1b1	A	C	6: 34,304,267 (GRCm38)		probably benign	Het
Armh4	T	A	14: 49,770,436 (GRCm38)	T527S	probably damaging	Het
Asns	A	T	6: 7,677,978 (GRCm38)	S367T	probably damaging	Het
BC034090	T	C	1: 155,226,158 (GRCm38)	N120S	probably benign	Het
Bub1	A	T	2: 127,805,236 (GRCm38)		probably benign	Het
Csf1	T	A	3: 107,756,739 (GRCm38)	T38S	probably damaging	Het
Ctsz	T	C	2: 174,428,585 (GRCm38)	E268G	possibly damaging	Het
Dach1	G	A	14: 97,827,750 (GRCm38)	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,545,442 (GRCm38)	L240S	probably benign	Het
Ercc1	G	A	7: 19,347,132 (GRCm38)		probably benign	Het
Esam	C	T	9: 37,534,196 (GRCm38)	T71I	probably benign	Het
Espl1	A	G	15: 102,312,989 (GRCm38)	I944V	probably damaging	Het
Gde1	A	G	7: 118,698,558 (GRCm38)	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,389,583 (GRCm38)		probably benign	Het
H2-M10.6	T	C	17: 36,813,066 (GRCm38)	Y141H	probably damaging	Het
Hk1	C	A	10: 62,315,540 (GRCm38)	K10N	probably damaging	Het
Lamc3	A	G	2: 31,898,232 (GRCm38)	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,320,528 (GRCm38)	F184S	probably damaging	Het
Mtcl1	T	A	17: 66,380,079 (GRCm38)	T611S	probably benign	Het
Myc	A	T	15: 61,989,664 (GRCm38)	H373L	probably damaging	Het
Myh6	T	A	14: 54,962,108 (GRCm38)	I249F	probably damaging	Het
Naaa	T	C	5: 92,278,143 (GRCm38)		probably benign	Het
Nfib	A	G	4: 82,323,658 (GRCm38)	V432A	probably damaging	Het
Nmt1	A	G	11: 103,043,200 (GRCm38)	K55R	probably damaging	Het
Opa3	C	T	7: 19,244,774 (GRCm38)	R55W	probably damaging	Het
Or4c122	T	C	2: 89,249,245 (GRCm38)	R150G	possibly damaging	Het
Pfn4	T	A	12: 4,770,182 (GRCm38)	D10E	probably damaging	Het
Pld5	T	A	1: 176,140,017 (GRCm38)	I91F	probably damaging	Het
Plec	A	C	15: 76,183,117 (GRCm38)	S1350A	probably damaging	Het
Polq	G	T	16: 37,013,181 (GRCm38)	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,765 (GRCm38)	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,186,508 (GRCm38)	S645P	probably damaging	Het
Rgs1	T	C	1: 144,247,906 (GRCm38)	T94A	probably benign	Het
Rpl11	G	A	4: 136,051,143 (GRCm38)		probably benign	Het
Sanbr	A	T	11: 23,615,265 (GRCm38)		probably null	Het
Scamp3	G	A	3: 89,181,927 (GRCm38)		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,258,123 (GRCm38)		probably benign	Het
Sirpb1b	A	T	3: 15,548,761 (GRCm38)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,207,068 (GRCm38)	R62C	probably damaging	Het
Stat4	T	C	1: 52,071,941 (GRCm38)		probably null	Het
Tex9	A	T	9: 72,480,595 (GRCm38)		probably null	Het
Tsku	T	C	7: 98,352,831 (GRCm38)	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562 (GRCm38)		probably benign	Het
Ttc23l	G	A	15: 10,537,566 (GRCm38)	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,401,421 (GRCm38)	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,363,801 (GRCm38)	I625F	probably damaging	Het
Xpo4	G	A	14: 57,591,022 (GRCm38)	Q794*	probably null	Het
Zfp112	T	A	7: 24,125,048 (GRCm38)	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,010 (GRCm38)	S140P	probably damaging	Het

Other mutations in Marchf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Marchf11	APN	15	26,409,199 (GRCm38)	missense	possibly damaging	0.93
IGL03079:Marchf11	APN	15	26,311,058 (GRCm38)	missense	probably damaging	1.00
R0625:Marchf11	UTSW	15	26,311,043 (GRCm38)	missense	probably damaging	0.99
R1055:Marchf11	UTSW	15	26,309,662 (GRCm38)	missense	probably damaging	0.99
R1116:Marchf11	UTSW	15	26,409,295 (GRCm38)	missense	probably damaging	1.00
R1851:Marchf11	UTSW	15	26,387,830 (GRCm38)	missense	probably damaging	1.00
R3862:Marchf11	UTSW	15	26,387,866 (GRCm38)	missense	probably damaging	1.00
R3863:Marchf11	UTSW	15	26,387,866 (GRCm38)	missense	probably damaging	1.00
R3864:Marchf11	UTSW	15	26,387,866 (GRCm38)	missense	probably damaging	1.00
R4375:Marchf11	UTSW	15	26,309,446 (GRCm38)	missense	probably damaging	0.96
R4376:Marchf11	UTSW	15	26,309,446 (GRCm38)	missense	probably damaging	0.96
R4580:Marchf11	UTSW	15	26,311,103 (GRCm38)	missense	probably damaging	1.00
R6284:Marchf11	UTSW	15	26,409,346 (GRCm38)	missense	probably benign	0.36
R6710:Marchf11	UTSW	15	26,387,863 (GRCm38)	missense	probably damaging	1.00
R7490:Marchf11	UTSW	15	26,311,101 (GRCm38)	missense	possibly damaging	0.88
R7748:Marchf11	UTSW	15	26,387,830 (GRCm38)	missense	probably damaging	0.98
R7794:Marchf11	UTSW	15	26,409,198 (GRCm38)	missense	probably benign	0.09
R7937:Marchf11	UTSW	15	26,409,237 (GRCm38)	missense	probably damaging	0.99
R7942:Marchf11	UTSW	15	26,409,419 (GRCm38)	makesense	probably null
X0063:Marchf11	UTSW	15	26,387,893 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCCAGTGCTTGTTCCCAG -3'
(R):5'- ACATACGGAGCGTGTTTCGG -3'

Sequencing Primer
(F):5'- TCCACCATGAGCGACGAG -3'
(R):5'- CTGGTCTCCGGTGCCTC -3'

Posted On

2015-07-06