Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Marchf11'

94307

Institutional Source

Beutler Lab

Gene Symbol

Marchf11

Ensembl Gene

ENSMUSG00000022269

Gene Name

membrane associated ring-CH-type finger 11

Synonyms

March11

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

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

Stock #

R1055 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

26309134-26409662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26309748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 134 (D134V)

Ref Sequence

ENSEMBL: ENSMUSP00000120622 (fasta)

Gene Model

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

AlphaFold

Q8CBH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126304
AA Change: D134V

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000140840
AA Change: D134V

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: D134V

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: D134V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269
AA Change: D134V

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

0.1126

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Ahctf1	G	A	1: 179,591,051 (GRCm39)	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,927,455 (GRCm39)	Q122*	probably null	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nptxr	T	C	15: 79,674,456 (GRCm39)		probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Shpk	A	T	11: 73,105,945 (GRCm39)	M266L	probably benign	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Tmprss2	T	C	16: 97,377,462 (GRCm39)	N212D	probably damaging	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (GRCm39)		probably null	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
R1116:Marchf11	UTSW	15	26,409,381 (GRCm39)	missense	probably damaging	1.00
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'- ACAGCCTCGAAGCTGAGCCA -3'
(R):5'- AGCTCTACCCTTGCGGTCCA -3'

Sequencing Primer
(F):5'- GAAGCTGAGCCACCTCTG -3'
(R):5'- TCCAGGTCCAGGACTCAC -3'

Posted On

2014-01-05