Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Marchf7'

543884

Institutional Source

Beutler Lab

Gene Symbol

Marchf7

Ensembl Gene

ENSMUSG00000026977

Gene Name

membrane associated ring-CH-type finger 7

Synonyms

March7, Gtrgeo17, Axot

MMRRC Submission

045098-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60040086-60079555 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 60059428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]

AlphaFold

Q9WV66

Predicted Effect

probably null
Transcript: ENSMUST00000067542

SMART Domains

Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102747

SMART Domains

Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102748

SMART Domains

Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous null mice show premature neural degeneration and defective development of the corpus callosum. Both T cell proliferation and T cell-derived leukaemia inhibitory factor are increased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,099,990 (GRCm39)	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,688,594 (GRCm39)	M1R	probably null	Het
A730049H05Rik	T	C	6: 92,804,975 (GRCm39)		probably benign	Het
AC125199.3	G	T	16: 88,608,915 (GRCm39)	H52Q	possibly damaging	Het
Adam34	A	T	8: 44,105,642 (GRCm39)	M1K	probably null	Het
Adgrf5	T	C	17: 43,763,214 (GRCm39)		probably null	Het
Antxr2	T	C	5: 98,108,564 (GRCm39)	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,861,542 (GRCm39)	V714D	probably damaging	Het
Cd96	A	G	16: 45,870,087 (GRCm39)	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,809,188 (GRCm39)	A51E	probably benign	Het
Chd4	T	A	6: 125,091,339 (GRCm39)	D1243E	probably benign	Het
Cntf	A	T	19: 12,742,697 (GRCm39)	I21N	probably damaging	Het
Col11a2	C	T	17: 34,266,118 (GRCm39)	A282V	probably benign	Het
Col14a1	T	A	15: 55,274,958 (GRCm39)		probably null	Het
Cyp2b9	T	C	7: 25,900,564 (GRCm39)	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,590,860 (GRCm39)		probably null	Het
Fancd2	T	C	6: 113,547,979 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,839,608 (GRCm39)	F474I	probably benign	Het
Frem1	A	G	4: 82,858,599 (GRCm39)	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Gstm4	A	G	3: 107,951,981 (GRCm39)	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,009,534 (GRCm39)	D466G	probably benign	Het
Hook2	A	G	8: 85,729,185 (GRCm39)	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,667,714 (GRCm39)	P260A	probably benign	Het
Igdcc3	C	A	9: 65,088,853 (GRCm39)	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,581,195 (GRCm39)	E356K	probably benign	Het
Inpp4a	A	T	1: 37,428,772 (GRCm39)	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,300,531 (GRCm39)	H157R	probably damaging	Het
Klhl6	G	T	16: 19,772,337 (GRCm39)	T336N	probably damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlh3	T	A	12: 85,282,494 (GRCm39)	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,541,522 (GRCm39)	M209V	probably benign	Het
Mtor	A	T	4: 148,548,932 (GRCm39)	T572S	probably benign	Het
Neurog1	T	C	13: 56,399,363 (GRCm39)	K128R	probably damaging	Het
Or10g6	T	A	9: 39,933,896 (GRCm39)	L69*	probably null	Het
Or2b4	T	A	17: 38,116,754 (GRCm39)	N239K	probably damaging	Het
Or5b122	A	G	19: 13,562,811 (GRCm39)	I48V	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,652 (GRCm39)	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,945 (GRCm39)	D306G	probably damaging	Het
Plekha5	C	T	6: 140,489,634 (GRCm39)	T237I	probably damaging	Het
Plscr1l1	T	C	9: 92,236,725 (GRCm39)	M128T	probably benign	Het
Pole	A	T	5: 110,480,365 (GRCm39)	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,310,715 (GRCm39)	Q74L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,178 (GRCm39)	F261S	probably damaging	Het
Psg21	A	T	7: 18,388,668 (GRCm39)		probably null	Het
Ptprg	T	A	14: 11,962,602 (GRCm38)	F133L	probably damaging	Het
Rom1	G	A	19: 8,906,569 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,412,489 (GRCm39)	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,367,164 (GRCm39)	S600P	probably benign	Het
Sema4b	T	A	7: 79,869,900 (GRCm39)	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,307,366 (GRCm39)	D199E	probably benign	Het
Slc19a1	A	G	10: 76,885,540 (GRCm39)	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,665,880 (GRCm39)	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,765,330 (GRCm39)	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,472,452 (GRCm39)	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940 (GRCm39)	F203L	probably benign	Het
Tnip1	T	A	11: 54,809,542 (GRCm39)	I442F	probably benign	Het
Txnip	A	G	3: 96,466,439 (GRCm39)	K127R	possibly damaging	Het
Usp32	A	C	11: 84,922,914 (GRCm39)	L172R	probably damaging	Het
Vmn2r66	A	G	7: 84,654,436 (GRCm39)	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,416,952 (GRCm39)	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,342,612 (GRCm39)	A885V	probably benign	Het

Other mutations in Marchf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:Marchf7	APN	2	60,064,539 (GRCm39)	missense	probably benign	0.01
IGL02001:Marchf7	APN	2	60,065,235 (GRCm39)	missense	possibly damaging	0.95
IGL02927:Marchf7	APN	2	60,067,262 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Marchf7	UTSW	2	60,062,622 (GRCm39)	missense	probably damaging	1.00
R0379:Marchf7	UTSW	2	60,064,470 (GRCm39)	missense	probably benign	0.00
R1722:Marchf7	UTSW	2	60,064,526 (GRCm39)	missense	probably damaging	1.00
R1755:Marchf7	UTSW	2	60,065,265 (GRCm39)	missense	probably benign
R1759:Marchf7	UTSW	2	60,064,888 (GRCm39)	missense	probably damaging	1.00
R1809:Marchf7	UTSW	2	60,062,637 (GRCm39)	missense	probably benign	0.16
R2018:Marchf7	UTSW	2	60,059,384 (GRCm39)	nonsense	probably null
R2226:Marchf7	UTSW	2	60,060,190 (GRCm39)	missense	probably benign	0.13
R2227:Marchf7	UTSW	2	60,060,190 (GRCm39)	missense	probably benign	0.13
R2471:Marchf7	UTSW	2	60,067,244 (GRCm39)	missense	possibly damaging	0.80
R3724:Marchf7	UTSW	2	60,060,089 (GRCm39)	missense	probably benign	0.10
R4349:Marchf7	UTSW	2	60,064,539 (GRCm39)	missense	probably benign	0.01
R4667:Marchf7	UTSW	2	60,071,394 (GRCm39)	nonsense	probably null
R5365:Marchf7	UTSW	2	60,064,258 (GRCm39)	missense	possibly damaging	0.48
R5524:Marchf7	UTSW	2	60,075,647 (GRCm39)	intron	probably benign
R5860:Marchf7	UTSW	2	60,067,187 (GRCm39)	missense	probably damaging	1.00
R5883:Marchf7	UTSW	2	60,064,786 (GRCm39)	missense	probably damaging	1.00
R5945:Marchf7	UTSW	2	60,071,331 (GRCm39)	missense	probably damaging	1.00
R5992:Marchf7	UTSW	2	60,075,564 (GRCm39)	missense	probably benign	0.14
R6937:Marchf7	UTSW	2	60,071,310 (GRCm39)	missense	probably damaging	1.00
R6944:Marchf7	UTSW	2	60,064,587 (GRCm39)	missense	probably benign	0.08
R7337:Marchf7	UTSW	2	60,071,189 (GRCm39)	splice site	probably null
R7448:Marchf7	UTSW	2	60,077,858 (GRCm39)	critical splice donor site	probably null
R7577:Marchf7	UTSW	2	60,060,048 (GRCm39)	nonsense	probably null
R7712:Marchf7	UTSW	2	60,065,334 (GRCm39)	nonsense	probably null
R7863:Marchf7	UTSW	2	60,071,366 (GRCm39)	missense	probably benign	0.35
R8281:Marchf7	UTSW	2	60,064,873 (GRCm39)	missense	probably benign	0.02
R8469:Marchf7	UTSW	2	60,064,670 (GRCm39)	missense	probably benign	0.05
R8745:Marchf7	UTSW	2	60,067,153 (GRCm39)	nonsense	probably null
R8794:Marchf7	UTSW	2	60,074,015 (GRCm39)	critical splice donor site	probably null
R9711:Marchf7	UTSW	2	60,060,175 (GRCm39)	missense	probably damaging	1.00
R9729:Marchf7	UTSW	2	60,064,785 (GRCm39)	nonsense	probably null
R9773:Marchf7	UTSW	2	60,064,785 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGGTACTTGCATGTCTTCTC -3'
(R):5'- ACAACTGTGAAGTCTCCAAAGTCTG -3'

Sequencing Primer
(F):5'- CAAATTTGCATTTCACAGGAAACC -3'
(R):5'- GTGAAGTCTCCAAAGTCTGAAAATCG -3'

Posted On

2019-05-13