Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Marchf7'

194755

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

039787-MU

Accession Numbers

Essential gene?

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

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60040086-60079555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60065265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 514 (S514P)

Ref Sequence

ENSEMBL: ENSMUSP00000099809 (fasta)

Gene Model

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

AlphaFold

Q9WV66

Predicted Effect

probably benign
Transcript: ENSMUST00000067542
AA Change: S514P

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

SMART Domains

Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: S514P

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: S514P

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

SMART Domains

Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: S514P

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: S514P

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

SMART Domains

Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: S514P

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

noncoding transcript
Transcript: ENSMUST00000131813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134905

Predicted Effect

probably benign
Transcript: ENSMUST00000142485

SMART Domains

Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143806

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,141,445 (GRCm39)	D418V	probably benign	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,663,874 (GRCm39)	I259V	probably benign	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Pramel27	T	C	4: 143,577,380 (GRCm39)	F3S	probably damaging	Het
Prss59	T	G	6: 40,903,096 (GRCm39)	Y92S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Tmem62	T	C	2: 120,814,958 (GRCm39)		probably null	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	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
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
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'- CGTCGCTCAGCCAAAATCATAGCTC -3'
(R):5'- TCATGCCCCAAAACTTACCTTACGG -3'

Sequencing Primer
(F):5'- GAATGTCTACGTCAGATGTACCAC -3'
(R):5'- CCCAAAACTTACCTTACGGTTATATC -3'

Posted On

2014-05-23