Incidental Mutation 'R8281:Marchf7'
ID 638184
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 067704-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # R8281 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60040086-60079555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60064873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 383 (S383L)
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: S383L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: S383L

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 benign
Transcript: ENSMUST00000102747
AA Change: S383L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: S383L

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 benign
Transcript: ENSMUST00000102748
AA Change: S383L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: S383L

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 benign
Transcript: ENSMUST00000142485
SMART Domains Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977

DomainStartEndE-ValueType
RINGv 15 72 2.11e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (44/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 G A 14: 68,745,334 (GRCm39) T630I possibly damaging Het
Adgrf3 T C 5: 30,402,301 (GRCm39) S576G possibly damaging Het
Asxl1 A G 2: 153,241,321 (GRCm39) R625G probably damaging Het
Atp1a1 A G 3: 101,486,940 (GRCm39) F916L probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Ccdc168 T G 1: 44,095,698 (GRCm39) D1800A possibly damaging Het
Chd9 A G 8: 91,763,225 (GRCm39) D2350G probably damaging Het
Cic G A 7: 24,971,249 (GRCm39) V327I probably benign Het
Crym T A 7: 119,801,250 (GRCm39) probably benign Het
Cyp3a13 G C 5: 137,892,559 (GRCm39) S495C probably benign Het
D5Ertd579e A T 5: 36,770,664 (GRCm39) F137I Het
Dip2a T C 10: 76,112,438 (GRCm39) T1087A probably damaging Het
Drc7 G A 8: 95,788,805 (GRCm39) E288K possibly damaging Het
Epb41l4a T C 18: 34,011,998 (GRCm39) E174G probably damaging Het
Ern2 T C 7: 121,769,483 (GRCm39) R848G probably damaging Het
F13b G T 1: 139,438,689 (GRCm39) R364S probably benign Het
F2rl1 A G 13: 95,650,585 (GRCm39) L99P probably damaging Het
Fam193a C A 5: 34,600,780 (GRCm39) N171K unknown Het
Fst A G 13: 114,591,777 (GRCm39) S201P probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm8232 A G 14: 44,674,548 (GRCm39) I182V Het
Iqca1l T A 5: 24,754,008 (GRCm39) H417L probably benign Het
Kalrn C T 16: 33,855,431 (GRCm39) W1956* probably null Het
Klk1b16 A G 7: 43,790,971 (GRCm39) M258V probably benign Het
Lta4h G T 10: 93,289,456 (GRCm39) D29Y probably damaging Het
Mob3c T C 4: 115,688,635 (GRCm39) I56T probably benign Het
Msl2 T C 9: 100,978,894 (GRCm39) S423P probably benign Het
Otop3 T C 11: 115,235,901 (GRCm39) I511T possibly damaging Het
Pbld2 T G 10: 62,883,805 (GRCm39) L90R probably damaging Het
Pcdh8 A G 14: 80,006,919 (GRCm39) V548A probably damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plch2 T A 4: 155,091,430 (GRCm39) M228L probably benign Het
Prkdc T C 16: 15,523,117 (GRCm39) C1180R probably damaging Het
Rasl2-9 A T 7: 5,128,351 (GRCm39) L193* probably null Het
Rbp3 A G 14: 33,678,320 (GRCm39) K756R probably benign Het
Rp1 T C 1: 4,418,139 (GRCm39) E991G probably damaging Het
Slc12a7 G A 13: 73,938,796 (GRCm39) R191H probably damaging Het
Spaca6 A G 17: 18,052,321 (GRCm39) N87S possibly damaging Het
Spata31e5 C T 1: 28,817,225 (GRCm39) C269Y possibly damaging Het
Speer1h T A 5: 11,647,646 (GRCm39) M128K probably damaging Het
Stab2 A T 10: 86,709,728 (GRCm39) V1639E probably damaging Het
Thpo T C 16: 20,544,525 (GRCm39) N235S possibly damaging Het
Tmem63b T A 17: 45,971,722 (GRCm39) H831L probably benign Het
Tomm20l T C 12: 71,158,241 (GRCm39) V8A probably benign Het
Trav13-5 A G 14: 54,032,918 (GRCm39) R3G possibly damaging Het
Vill T C 9: 118,887,547 (GRCm39) S104P probably 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
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'- GACTTCACAGTCTCGGAATAATGG -3'
(R):5'- TTGACGCTCCAGATGCTTG -3'

Sequencing Primer
(F):5'- GTCTCGGAATAATGGAACCTCCTCG -3'
(R):5'- ACGCTCCAGATGCTTGTGGTC -3'
Posted On 2020-07-28