Incidental Mutation 'R8745:Marchf7'
ID 663461
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 068589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R8745 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 60040086-60079555 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 60067153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 558 (Q558*)
Ref Sequence ENSEMBL: ENSMUSP00000068961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]
AlphaFold Q9WV66
Predicted Effect probably null
Transcript: ENSMUST00000067542
AA Change: Q558*
SMART Domains Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: Q558*

DomainStartEndE-ValueType
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
AA Change: Q558*
SMART Domains Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: Q558*

DomainStartEndE-ValueType
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
AA Change: Q558*
SMART Domains Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: Q558*

DomainStartEndE-ValueType
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: ENSMUST00000142485
AA Change: Q19*
SMART Domains Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
AA Change: Q19*

DomainStartEndE-ValueType
RINGv 15 72 2.11e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,611,807 (GRCm39) N377S probably benign Het
Aldh3b3 A T 19: 4,014,890 (GRCm39) Y129F possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd61 G A 5: 143,828,237 (GRCm39) S246L possibly damaging Het
Ccdc187 T A 2: 26,170,526 (GRCm39) I651F probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfap58 A T 19: 47,929,553 (GRCm39) K5* probably null Het
Col27a1 T C 4: 63,144,153 (GRCm39) S614P probably benign Het
Crlf3 T A 11: 79,955,100 (GRCm39) E85D probably damaging Het
Dennd2b T A 7: 109,156,279 (GRCm39) H157L probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnah7b A G 1: 46,221,624 (GRCm39) I1243V possibly damaging Het
Dnajc22 A G 15: 98,999,345 (GRCm39) T177A probably benign Het
Dytn A T 1: 63,686,606 (GRCm39) C355S probably benign Het
Efcab3 C T 11: 104,749,304 (GRCm39) T2340M possibly damaging Het
Ehbp1 T C 11: 22,119,064 (GRCm39) N202S possibly damaging Het
Exoc3l2 T C 7: 19,215,212 (GRCm39) I491T unknown Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fam53a A T 5: 33,767,781 (GRCm39) I43N probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
Fn1 T C 1: 71,676,528 (GRCm39) T568A probably benign Het
Gba1 A T 3: 89,115,180 (GRCm39) N404I probably damaging Het
Gsap A G 5: 21,474,949 (GRCm39) Y536C probably benign Het
Hecw2 T A 1: 53,972,330 (GRCm39) E230V probably damaging Het
Heg1 A G 16: 33,555,986 (GRCm39) Q1046R probably benign Het
Kctd14 G A 7: 97,107,445 (GRCm39) W233* probably null Het
Krt88 T C 15: 101,351,460 (GRCm39) S156P possibly damaging Het
L3mbtl1 C A 2: 162,812,137 (GRCm39) H727Q probably benign Het
Man1c1 T C 4: 134,303,295 (GRCm39) K400E probably damaging Het
Map2 A T 1: 66,452,556 (GRCm39) Q482L probably benign Het
Map3k1 A G 13: 111,893,306 (GRCm39) V733A probably damaging Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Map4k3 G A 17: 80,944,164 (GRCm39) R328C possibly damaging Het
Mepe T C 5: 104,485,525 (GRCm39) S222P possibly damaging Het
Mfap3l A T 8: 61,124,958 (GRCm39) N400I possibly damaging Het
Myom3 T C 4: 135,522,509 (GRCm39) probably null Het
Nav3 T C 10: 109,659,311 (GRCm39) T769A probably benign Het
Ndufb7 T A 8: 84,297,518 (GRCm39) Y58N probably damaging Het
Nup160 T C 2: 90,530,463 (GRCm39) F445L probably benign Het
Or1e20-ps1 C A 11: 73,324,848 (GRCm39) *68L probably null Het
Or4c126 T A 2: 89,824,076 (GRCm39) M113K probably damaging Het
Or4p23 T C 2: 88,576,408 (GRCm39) I275V possibly damaging Het
Ovch2 G A 7: 107,389,584 (GRCm39) S321F possibly damaging Het
Pamr1 T C 2: 102,441,924 (GRCm39) L171P probably damaging Het
Pcdhga5 T C 18: 37,828,974 (GRCm39) V474A possibly damaging Het
Pcgf6 A G 19: 47,039,159 (GRCm39) S34P probably benign Het
Pitrm1 C T 13: 6,603,238 (GRCm39) P96L probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ranbp1 A G 16: 18,065,244 (GRCm39) S21P possibly damaging Het
Rasgrp2 G T 19: 6,463,949 (GRCm39) R549L probably damaging Het
Rassf10 T A 7: 112,554,083 (GRCm39) L228Q probably damaging Het
Rho A T 6: 115,912,483 (GRCm39) I275F probably damaging Het
Rrp9 T C 9: 106,361,657 (GRCm39) V400A possibly damaging Het
Satb2 A G 1: 57,008,796 (GRCm39) L62P unknown Het
Scmh1 T A 4: 120,362,559 (GRCm39) L265* probably null Het
Scn7a A G 2: 66,510,526 (GRCm39) M1292T probably benign Het
Serpinb10 A T 1: 107,474,542 (GRCm39) T235S probably benign Het
Serpinb6c A G 13: 34,064,702 (GRCm39) V214A probably benign Het
Sf3b3 A G 8: 111,550,816 (GRCm39) I616T possibly damaging Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Snx5 A T 2: 144,103,932 (GRCm39) S22T probably benign Het
Spata6 T C 4: 111,636,476 (GRCm39) F256L probably benign Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Tex9 T C 9: 72,389,778 (GRCm39) I111V probably benign Het
Tigd4 A G 3: 84,501,874 (GRCm39) I264V probably benign Het
Tmem182 C T 1: 40,877,536 (GRCm39) A137V probably damaging Het
Tnfrsf1a A G 6: 125,338,745 (GRCm39) I385V probably damaging Het
Tnrc18 A T 5: 142,773,202 (GRCm39) F542L Het
Tpbpa G A 13: 61,087,778 (GRCm39) T86I possibly damaging Het
Trappc14 A G 5: 138,261,327 (GRCm39) probably null Het
Ubr5 G A 15: 38,025,039 (GRCm39) P573L Het
Usp54 A G 14: 20,612,176 (GRCm39) I880T probably benign Het
Vmn1r9 A G 6: 57,048,767 (GRCm39) I281V probably benign Het
Zfp456 C A 13: 67,515,373 (GRCm39) C111F possibly damaging Het
Other mutations in Marchf7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CATTGTGTTCACAGTGGCAGG -3'
(R):5'- AGATGGACTATGTCATAAACACTGG -3'

Sequencing Primer
(F):5'- TTCACAGTGGCAGGAACTCTCAG -3'
(R):5'- CTCTAAGAGGGTGAATCTTACC -3'
Posted On 2021-03-08