Mutagenetix > Incidental Mutation

Incidental Mutation 'R7863:Marchf7'

607624

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

045916-MU

Accession Numbers

Essential gene?

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

Stock #

R7863 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60040086-60079555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60071366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 623 (H623Q)

Ref Sequence

ENSEMBL: ENSMUSP00000068961 (fasta)

Gene Model

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

AlphaFold

Q9WV66

Predicted Effect

probably benign
Transcript: ENSMUST00000067542
AA Change: H623Q

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: H623Q

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 benign
Transcript: ENSMUST00000102747
AA Change: H623Q

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: H623Q

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 benign
Transcript: ENSMUST00000102748
AA Change: H623Q

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: H623Q

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

SMART Domains

Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
AA Change: H84Q

Domain	Start	End	E-Value	Type
RINGv	15	72	2.11e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,101 (GRCm39)	S829P	probably benign	Het
Abca1	A	T	4: 53,107,179 (GRCm39)	F183I	probably benign	Het
Abca12	A	T	1: 71,332,656 (GRCm39)	M1235K	probably damaging	Het
Abca7	A	G	10: 79,844,655 (GRCm39)	D1488G	probably damaging	Het
Adgrl3	A	G	5: 81,660,596 (GRCm39)	Y387C	probably damaging	Het
Adnp	T	C	2: 168,031,270 (GRCm39)	K14E	possibly damaging	Het
Ago3	T	C	4: 126,243,990 (GRCm39)	R721G	possibly damaging	Het
Aldh3b3	T	A	19: 4,015,322 (GRCm39)	Y196*	probably null	Het
Alox12b	T	C	11: 69,057,753 (GRCm39)	W506R	probably damaging	Het
Arid4b	A	G	13: 14,338,734 (GRCm39)	I402V	probably benign	Het
Cep55	C	T	19: 38,046,247 (GRCm39)		probably benign	Het
Chl1	A	G	6: 103,683,475 (GRCm39)	N767S	possibly damaging	Het
Cldn6	A	G	17: 23,900,096 (GRCm39)	N20S	probably benign	Het
Col23a1	A	T	11: 51,463,597 (GRCm39)	I420F	probably damaging	Het
Cxcr6	G	A	9: 123,639,914 (GRCm39)	R312Q	probably damaging	Het
Cyp4a10	T	C	4: 115,375,622 (GRCm39)	V35A	probably benign	Het
Def6	A	G	17: 28,446,841 (GRCm39)	N548D	possibly damaging	Het
Dock6	A	G	9: 21,757,954 (GRCm39)	V50A	possibly damaging	Het
Epha8	T	A	4: 136,660,966 (GRCm39)	I639F	probably damaging	Het
Ephx2	T	A	14: 66,344,692 (GRCm39)	R211*	probably null	Het
Espn	C	T	4: 152,236,616 (GRCm39)	V17M	probably damaging	Het
Ezr	A	G	17: 7,008,863 (GRCm39)	L403P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Golm1	T	C	13: 59,797,383 (GRCm39)	Y154C	probably damaging	Het
Gpam	A	G	19: 55,059,388 (GRCm39)	Y820H	probably damaging	Het
Gpr12	T	C	5: 146,520,370 (GRCm39)	D184G	possibly damaging	Het
Gpr87	C	T	3: 59,087,317 (GRCm39)	A63T	probably damaging	Het
Hmx2	G	T	7: 131,156,082 (GRCm39)	G16V	probably benign	Het
Hspg2	T	C	4: 137,292,135 (GRCm39)	V4009A	probably benign	Het
Iglc3	T	C	16: 18,884,248 (GRCm39)	D61G	not run	Het
Ikzf2	G	T	1: 69,609,796 (GRCm39)	Q144K	possibly damaging	Het
Il1rap	C	T	16: 26,495,461 (GRCm39)	R23C	probably damaging	Het
Kctd9	T	A	14: 67,967,166 (GRCm39)	D161E	possibly damaging	Het
Klhl8	T	C	5: 104,019,968 (GRCm39)	N351S	probably benign	Het
Krt28	G	A	11: 99,255,999 (GRCm39)	T420I	possibly damaging	Het
Max	A	G	12: 76,986,848 (GRCm39)	I63T	probably damaging	Het
Mrpl28	T	A	17: 26,343,615 (GRCm39)	V125E	possibly damaging	Het
Mtmr10	T	A	7: 63,969,205 (GRCm39)	D322E	probably benign	Het
Mtrex	T	C	13: 113,045,435 (GRCm39)	T366A	probably benign	Het
Nlrp4f	A	T	13: 65,342,059 (GRCm39)	Y529N	possibly damaging	Het
Nlrx1	A	G	9: 44,176,509 (GRCm39)	I31T	probably benign	Het
Oaz2	G	A	9: 65,596,449 (GRCm39)	R171Q	possibly damaging	Het
Or4c121	T	G	2: 89,024,295 (GRCm39)	I28L	probably benign	Het
Or5a1	T	G	19: 12,097,974 (GRCm39)	D34A	possibly damaging	Het
Or5t16	T	G	2: 86,819,424 (GRCm39)	Y32S	probably damaging	Het
Pcdhgc4	T	A	18: 37,951,027 (GRCm39)	Y814*	probably null	Het
Pcm1	T	A	8: 41,714,163 (GRCm39)	I243K	probably damaging	Het
Pdcd11	A	T	19: 47,085,403 (GRCm39)	N171I	probably damaging	Het
Phf20l1	T	A	15: 66,487,084 (GRCm39)	V400E	possibly damaging	Het
Pira13	C	T	7: 3,827,801 (GRCm39)		probably null	Het
Psg28	T	A	7: 18,162,042 (GRCm39)	T154S	possibly damaging	Het
Ptgs2	T	A	1: 149,977,090 (GRCm39)	M99K	probably damaging	Het
Ptprh	T	A	7: 4,606,097 (GRCm39)	M1L	probably benign	Het
Rbp4	T	C	19: 38,112,546 (GRCm39)	T140A	possibly damaging	Het
Rhbdd3	G	A	11: 5,053,236 (GRCm39)	R12Q	probably benign	Het
Saal1	T	C	7: 46,342,327 (GRCm39)	N372S	probably benign	Het
Satb1	T	C	17: 52,112,350 (GRCm39)	E88G	possibly damaging	Het
Shfl	G	A	9: 20,782,672 (GRCm39)	A79T	possibly damaging	Het
Slc49a3	A	T	5: 108,593,400 (GRCm39)	L146Q	probably damaging	Het
Slc6a9	G	T	4: 117,721,207 (GRCm39)	C319F	probably damaging	Het
Smc6	T	G	12: 11,339,130 (GRCm39)	V322G	probably benign	Het
Snrnp200	T	A	2: 127,073,609 (GRCm39)	F1336I	probably damaging	Het
Spg7	T	A	8: 123,815,788 (GRCm39)		probably null	Het
Stab2	G	A	10: 86,808,745 (GRCm39)	T188I	probably benign	Het
Tbata	A	G	10: 61,011,521 (GRCm39)	E19G	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ticrr	T	C	7: 79,331,760 (GRCm39)	V757A	possibly damaging	Het
Tle1	T	C	4: 72,059,529 (GRCm39)	S261G	probably null	Het
Tlr3	T	A	8: 45,850,774 (GRCm39)	I708L	probably benign	Het
Tph2	A	C	10: 114,915,906 (GRCm39)	S422R	probably damaging	Het
Trim26	A	G	17: 37,161,664 (GRCm39)	T28A	probably damaging	Het
Trmt10c	A	G	16: 55,855,554 (GRCm39)	L27S	probably benign	Het
Tubb6	T	C	18: 67,534,790 (GRCm39)	S230P	probably damaging	Het
Usf1	C	T	1: 171,245,385 (GRCm39)	Q266*	probably null	Het
Vegfa	A	G	17: 46,336,461 (GRCm39)	F220L	probably damaging	Het
Vmn2r105	C	T	17: 20,428,937 (GRCm39)	C713Y	probably benign	Het
Vmn2r17	T	A	5: 109,568,035 (GRCm39)	S53T	probably benign	Het
Xirp2	A	T	2: 67,343,074 (GRCm39)	T1772S	probably benign	Het
Zfp462	T	C	4: 55,007,747 (GRCm39)	I62T	probably benign	Het
Zfp516	T	A	18: 83,019,453 (GRCm39)	I1157N	probably benign	Het
Zfp819	C	A	7: 43,267,316 (GRCm39)	Q600K	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
R6992:Marchf7	UTSW	2	60,059,428 (GRCm39)	critical splice donor site	probably null
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
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'- GGAGGTGTGAACATCATATAGAACC -3'
(R):5'- TTGGCAATACCTATTTTGAGCCC -3'

Sequencing Primer
(F):5'- AGAACCTATTTGTCATTGTACATGG -3'
(R):5'- GCAATACCTATTTTGAGCCCAATTTC -3'

Posted On

2019-12-20