Mutagenetix > Incidental Mutation

Incidental Mutation 'R5176:Marchf9'

462797

Institutional Source

Beutler Lab

Gene Symbol

Marchf9

Ensembl Gene

ENSMUSG00000040502

Gene Name

membrane associated ring-CH-type finger 9

Synonyms

March9

MMRRC Submission

042756-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5176 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126891919-126896053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126895319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 102 (D102G)

Ref Sequence

ENSEMBL: ENSMUSP00000041581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000040307] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]

AlphaFold

Q3TZ87

Predicted Effect

probably benign
Transcript: ENSMUST00000006911

SMART Domains

Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	295	9.2e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040307
AA Change: D102G

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

SMART Domains

Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502
AA Change: D102G

Domain	Start	End	E-Value	Type
low complexity region	20	45	N/A	INTRINSIC
low complexity region	50	60	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
RINGv	109	156	7.51e-18	SMART
transmembrane domain	183	205	N/A	INTRINSIC
Blast:AAA	211	238	2e-9	BLAST
low complexity region	267	284	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120226

SMART Domains

Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	103	6e-10	PFAM
low complexity region	121	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123456

Predicted Effect

probably benign
Transcript: ENSMUST00000125682

SMART Domains

Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	261	5.19e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133115

SMART Domains

Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
S_TKc	6	250	1.55e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140254

Predicted Effect

probably benign
Transcript: ENSMUST00000142558

SMART Domains

Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	74	1.6e-8	PFAM

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	C	A	10: 79,834,123 (GRCm39)	H116Q	probably benign	Het
Akap12	G	T	10: 4,303,947 (GRCm39)	E252D	probably benign	Het
Apobr	A	G	7: 126,184,188 (GRCm39)	D2G	probably damaging	Het
Arhgef12	A	T	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Asb3	T	A	11: 31,031,357 (GRCm39)		probably null	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Cacna1b	A	T	2: 24,525,143 (GRCm39)	Y1679N	probably damaging	Het
Ccdc69	C	T	11: 54,951,296 (GRCm39)	A42T	probably benign	Het
Cds1	G	T	5: 101,929,286 (GRCm39)	D55Y	possibly damaging	Het
Cep135	C	A	5: 76,784,873 (GRCm39)	D989E	probably benign	Het
Cpsf6	C	A	10: 117,197,189 (GRCm39)		probably benign	Het
Ctif	C	T	18: 75,770,290 (GRCm39)	V32M	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,158,070 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,403,868 (GRCm39)	N1689K	probably damaging	Het
Dop1b	A	G	16: 93,536,931 (GRCm39)	Y14C	probably damaging	Het
Fam187a	C	T	11: 102,777,290 (GRCm39)	R365C	probably damaging	Het
Fastkd2	A	G	1: 63,770,598 (GRCm39)		probably benign	Het
Fhip2a	A	G	19: 57,359,613 (GRCm39)	N51S	probably damaging	Het
Fkbp15	G	T	4: 62,230,560 (GRCm39)	L718I	possibly damaging	Het
Gabbr2	C	A	4: 46,681,208 (GRCm39)	V118F	probably damaging	Het
Gm13991	T	A	2: 116,358,508 (GRCm39)		noncoding transcript	Het
H2-M9	T	C	17: 36,952,523 (GRCm39)	I174M	probably damaging	Het
Ift70a2	T	C	2: 75,807,421 (GRCm39)	M364V	probably benign	Het
Insr	T	A	8: 3,208,742 (GRCm39)	M1240L	probably benign	Het
Ints15	G	T	5: 143,300,830 (GRCm39)	S7*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Mad2l1bp	T	A	17: 46,463,738 (GRCm39)	E95D	probably benign	Het
Muc19	A	G	15: 91,776,374 (GRCm39)		noncoding transcript	Het
Nr1h4	T	A	10: 89,334,117 (GRCm39)	Y91F	probably benign	Het
Nr5a2	A	T	1: 136,876,540 (GRCm39)	M1K	probably null	Het
Oprd1	T	C	4: 131,841,104 (GRCm39)	T285A	probably benign	Het
Optc	T	C	1: 133,829,822 (GRCm39)	N196S	probably benign	Het
Or51f5	T	A	7: 102,424,513 (GRCm39)	S261T	probably damaging	Het
Or5g29	A	C	2: 85,421,779 (GRCm39)	K298N	possibly damaging	Het
Or7g21	A	T	9: 19,032,656 (GRCm39)	Y132F	probably damaging	Het
Panx2	G	T	15: 88,944,431 (GRCm39)	R52L	probably damaging	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Prss56	T	C	1: 87,111,880 (GRCm39)	L37S	probably damaging	Het
Ptk2b	T	C	14: 66,393,864 (GRCm39)	T870A	probably damaging	Het
Rabep2	C	A	7: 126,033,465 (GRCm39)		probably benign	Het
Rbm48	A	C	5: 3,645,444 (GRCm39)	V80G	probably damaging	Het
Rhou	G	T	8: 124,380,848 (GRCm39)	C55F	possibly damaging	Het
Rnaseh2c	A	G	19: 5,652,070 (GRCm39)	D45G	probably benign	Het
Rusc1	A	G	3: 88,996,389 (GRCm39)	S109P	probably damaging	Het
Ryr3	T	C	2: 112,588,012 (GRCm39)	D2643G	possibly damaging	Het
Septin4	T	A	11: 87,458,358 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,810,703 (GRCm39)	E471G	probably benign	Het
Sipa1	A	G	19: 5,709,406 (GRCm39)	S310P	probably damaging	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spen	T	C	4: 141,203,587 (GRCm39)	E1680G	unknown	Het
Steap3	C	T	1: 120,171,497 (GRCm39)		probably null	Het
Tmeff2	T	A	1: 51,110,700 (GRCm39)	C171*	probably null	Het
Tmem138	A	T	19: 10,552,634 (GRCm39)	M33K	probably benign	Het
Trappc11	C	A	8: 47,963,998 (GRCm39)	V601L	possibly damaging	Het
Ttll4	C	A	1: 74,718,445 (GRCm39)	H99N	probably damaging	Het
Uchl4	A	T	9: 64,143,022 (GRCm39)	K168*	probably null	Het
Wdr17	C	T	8: 55,106,913 (GRCm39)		probably null	Het
Xpo1	A	G	11: 23,245,977 (GRCm39)	D1029G	probably damaging	Het
Zfp719	G	T	7: 43,240,549 (GRCm39)	K712N	probably damaging	Het

Other mutations in Marchf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Marchf9	APN	10	126,893,459 (GRCm39)	missense	probably damaging	1.00
IGL01433:Marchf9	APN	10	126,892,562 (GRCm39)	missense	probably benign	0.26
R5681:Marchf9	UTSW	10	126,894,172 (GRCm39)	missense	probably benign	0.17
R6526:Marchf9	UTSW	10	126,892,558 (GRCm39)	missense	probably benign	0.01
R7328:Marchf9	UTSW	10	126,894,165 (GRCm39)	missense	probably damaging	1.00
R7673:Marchf9	UTSW	10	126,892,468 (GRCm39)	missense	probably damaging	1.00
R9168:Marchf9	UTSW	10	126,895,360 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTGACACACTCCAGGAGTC -3'
(R):5'- GTTCCTGAACGAGCTGAAGC -3'

Sequencing Primer
(F):5'- ACTCCAGGAGTCTCCAGC -3'
(R):5'- AAGCTGCTGGTGCTGAC -3'

Posted On

2017-03-03