Incidental Mutation 'R6931:Marchf1'
ID 540027
Institutional Source Beutler Lab
Gene Symbol Marchf1
Ensembl Gene ENSMUSG00000036469
Gene Name membrane associated ring-CH-type finger 1
Synonyms March1, 2900024D24Rik
MMRRC Submission 045326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6931 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 66070552-66924289 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66921144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 529 (T529A)
Ref Sequence ENSEMBL: ENSMUSP00000105885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000039540] [ENSMUST00000072482] [ENSMUST00000098708] [ENSMUST00000110253] [ENSMUST00000110255] [ENSMUST00000110256] [ENSMUST00000110258] [ENSMUST00000110259] [ENSMUST00000178982]
AlphaFold Q6NZQ8
Predicted Effect probably benign
Transcript: ENSMUST00000026681
SMART Domains Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

DomainStartEndE-ValueType
Pfam:DUF2962 10 162 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039540
AA Change: T264A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469
AA Change: T264A

DomainStartEndE-ValueType
RINGv 69 117 2.63e-22 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072482
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: T274A

DomainStartEndE-ValueType
low complexity region 25 54 N/A INTRINSIC
RINGv 75 123 2.63e-22 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098708
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: T274A

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
RINGv 79 127 2.63e-22 SMART
transmembrane domain 155 177 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110253
AA Change: T268A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469
AA Change: T268A

DomainStartEndE-ValueType
RINGv 69 117 2.63e-22 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110255
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: T274A

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
RINGv 79 127 2.63e-22 SMART
transmembrane domain 155 177 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110256
AA Change: T529A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: T529A

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
low complexity region 111 125 N/A INTRINSIC
low complexity region 151 165 N/A INTRINSIC
RINGv 330 378 2.14e-22 SMART
transmembrane domain 406 428 N/A INTRINSIC
transmembrane domain 448 470 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110258
AA Change: T278A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: T278A

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
RINGv 79 127 2.63e-22 SMART
transmembrane domain 155 177 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110259
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: T274A

DomainStartEndE-ValueType
low complexity region 25 54 N/A INTRINSIC
RINGv 75 123 2.63e-22 SMART
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178982
AA Change: T278A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: T278A

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
RINGv 79 127 2.63e-22 SMART
transmembrane domain 155 177 N/A INTRINSIC
transmembrane domain 197 219 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH1 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. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,118,561 (GRCm39) I15N probably damaging Het
2900092C05Rik T A 7: 12,246,523 (GRCm39) S6R unknown Het
Abca6 T A 11: 110,135,154 (GRCm39) L210F probably benign Het
Abcc4 T C 14: 118,765,400 (GRCm39) Q919R probably damaging Het
Adcy1 A G 11: 7,100,884 (GRCm39) D811G possibly damaging Het
Akna A G 4: 63,305,339 (GRCm39) S476P probably benign Het
Ankrd49 T C 9: 14,694,122 (GRCm39) N15S probably benign Het
Apcdd1 A G 18: 63,066,979 (GRCm39) D31G probably damaging Het
Aplp1 G T 7: 30,142,625 (GRCm39) R106S probably damaging Het
Arhgap40 T C 2: 158,373,138 (GRCm39) L132S probably benign Het
Atp8b5 G T 4: 43,364,108 (GRCm39) probably null Het
Axl T C 7: 25,460,858 (GRCm39) D717G probably damaging Het
Bub1 T A 2: 127,643,302 (GRCm39) D1014V probably damaging Het
Cacna2d4 T A 6: 119,259,195 (GRCm39) V603E possibly damaging Het
Cnot11 G C 1: 39,579,002 (GRCm39) C289S probably damaging Het
Coasy A G 11: 100,974,407 (GRCm39) H191R probably benign Het
Cyp11a1 A T 9: 57,932,403 (GRCm39) N341Y possibly damaging Het
Cyp1a2 T C 9: 57,589,439 (GRCm39) N125S probably benign Het
Cyp2j8 A T 4: 96,333,018 (GRCm39) probably null Het
Dnah9 A T 11: 66,008,452 (GRCm39) I791K possibly damaging Het
Ecm2 A T 13: 49,682,487 (GRCm39) Q505H probably benign Het
Fam135a T A 1: 24,124,568 (GRCm39) M1L probably damaging Het
Fam171a2 A G 11: 102,329,260 (GRCm39) S500P possibly damaging Het
Fat3 A G 9: 15,871,238 (GRCm39) S3718P possibly damaging Het
Frem1 G A 4: 82,888,914 (GRCm39) P1085S probably damaging Het
Gcfc2 A G 6: 81,919,966 (GRCm39) I390V probably benign Het
Gemin4 A G 11: 76,101,782 (GRCm39) L993P probably damaging Het
Ggnbp2 T A 11: 84,723,993 (GRCm39) D647V probably damaging Het
Gpr84 A C 15: 103,217,441 (GRCm39) L212R probably damaging Het
Hnrnpu T C 1: 178,158,997 (GRCm39) probably benign Het
Hspg2 G T 4: 137,268,031 (GRCm39) C2116F probably damaging Het
Icam4 T A 9: 20,941,747 (GRCm39) V249E probably damaging Het
Itga1 T C 13: 115,138,099 (GRCm39) N429D probably benign Het
Kcns1 T C 2: 164,006,758 (GRCm39) T402A probably damaging Het
Ky T A 9: 102,414,826 (GRCm39) V246E probably damaging Het
Med18 C G 4: 132,187,194 (GRCm39) V102L probably damaging Het
Mlst8 T C 17: 24,696,249 (GRCm39) D160G probably damaging Het
Mthfd1 T C 12: 76,350,472 (GRCm39) I470T probably benign Het
Muc1 C T 3: 89,136,466 (GRCm39) probably benign Het
Mup8 G A 4: 60,220,322 (GRCm39) L137F probably damaging Het
Mybpc1 A T 10: 88,378,192 (GRCm39) L341* probably null Het
Nacad A G 11: 6,551,877 (GRCm39) F438S probably benign Het
Necap2 C A 4: 140,805,523 (GRCm39) probably null Het
Nifk T C 1: 118,260,078 (GRCm39) L163S possibly damaging Het
Npsr1 A G 9: 24,201,293 (GRCm39) I73V probably benign Het
Nup50l T C 6: 96,142,529 (GRCm39) T172A possibly damaging Het
Oog3 C T 4: 143,885,923 (GRCm39) C225Y probably benign Het
Or2d2 A G 7: 106,728,108 (GRCm39) L164P probably damaging Het
Or4b13 A T 2: 90,083,121 (GRCm39) C70* probably null Het
Or4c100 T A 2: 88,356,538 (GRCm39) C204S possibly damaging Het
Or4p18 G A 2: 88,232,408 (GRCm39) T290I probably benign Het
Plagl2 C A 2: 153,077,863 (GRCm39) K39N probably benign Het
Plcg2 T A 8: 118,284,058 (GRCm39) D118E probably benign Het
Ppp4r3b A T 11: 29,161,786 (GRCm39) K720I possibly damaging Het
Prmt3 A T 7: 49,478,764 (GRCm39) T442S probably benign Het
Prr14l G A 5: 32,988,035 (GRCm39) H487Y probably damaging Het
Psmb3 G A 11: 97,594,797 (GRCm39) V63I probably benign Het
Psmc6 T A 14: 45,581,182 (GRCm39) I326K possibly damaging Het
Ptcd1 T C 5: 145,091,885 (GRCm39) T405A probably benign Het
Rbm33 G A 5: 28,615,743 (GRCm39) V29M probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scarb1 T A 5: 125,361,783 (GRCm39) I107F probably damaging Het
Slc39a12 A G 2: 14,394,186 (GRCm39) S19G probably benign Het
Slc44a5 T C 3: 153,964,143 (GRCm39) V503A probably benign Het
Slc9a9 T C 9: 94,552,139 (GRCm39) S9P possibly damaging Het
Snrnp35 A C 5: 124,628,764 (GRCm39) R192S possibly damaging Het
Tbx15 T C 3: 99,259,467 (GRCm39) L446P probably damaging Het
Tlnrd1 A G 7: 83,531,805 (GRCm39) F209L probably benign Het
Tmprss12 C T 15: 100,183,149 (GRCm39) R164C probably damaging Het
Tnfsf4 T A 1: 161,244,644 (GRCm39) F111Y possibly damaging Het
Trib2 A T 12: 15,843,640 (GRCm39) M198K probably benign Het
Ttll8 A G 15: 88,798,507 (GRCm39) S743P possibly damaging Het
Ush2a A T 1: 188,460,580 (GRCm39) N2614Y probably benign Het
Usp6nl G A 2: 6,435,269 (GRCm39) V343I possibly damaging Het
Vrtn C A 12: 84,697,016 (GRCm39) Q589K probably benign Het
Zbed5 T A 5: 129,932,170 (GRCm39) Y706* probably null Het
Zc3h10 A G 10: 128,380,553 (GRCm39) V268A probably damaging Het
Zfp442 C T 2: 150,252,860 (GRCm39) probably null Het
Zpld2 A T 4: 133,920,464 (GRCm39) M567K probably benign Het
Other mutations in Marchf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01105:Marchf1 APN 8 66,871,529 (GRCm39) missense possibly damaging 0.88
IGL02468:Marchf1 APN 8 66,871,563 (GRCm39) missense probably damaging 1.00
R0391:Marchf1 UTSW 8 66,871,625 (GRCm39) missense probably damaging 1.00
R1500:Marchf1 UTSW 8 66,921,042 (GRCm39) missense probably damaging 1.00
R1794:Marchf1 UTSW 8 66,839,594 (GRCm39) missense possibly damaging 0.63
R2015:Marchf1 UTSW 8 66,574,473 (GRCm39) missense probably damaging 0.99
R2184:Marchf1 UTSW 8 66,840,075 (GRCm39) missense probably benign 0.07
R2273:Marchf1 UTSW 8 66,840,151 (GRCm39) missense probably benign 0.15
R2274:Marchf1 UTSW 8 66,840,151 (GRCm39) missense probably benign 0.15
R2275:Marchf1 UTSW 8 66,840,151 (GRCm39) missense probably benign 0.15
R2314:Marchf1 UTSW 8 66,574,442 (GRCm39) start codon destroyed probably null 0.77
R3114:Marchf1 UTSW 8 66,840,033 (GRCm39) missense probably benign
R4458:Marchf1 UTSW 8 66,908,823 (GRCm39) missense probably damaging 1.00
R4656:Marchf1 UTSW 8 66,839,071 (GRCm39) missense probably benign 0.05
R4773:Marchf1 UTSW 8 66,839,876 (GRCm39) missense probably benign 0.03
R4838:Marchf1 UTSW 8 66,921,015 (GRCm39) missense probably damaging 1.00
R5073:Marchf1 UTSW 8 66,839,020 (GRCm39) missense probably benign 0.03
R5507:Marchf1 UTSW 8 66,871,542 (GRCm39) missense probably damaging 1.00
R5575:Marchf1 UTSW 8 66,920,962 (GRCm39) missense probably damaging 1.00
R5916:Marchf1 UTSW 8 66,839,763 (GRCm39) missense possibly damaging 0.89
R7350:Marchf1 UTSW 8 66,921,051 (GRCm39) nonsense probably null
R7487:Marchf1 UTSW 8 66,908,726 (GRCm39) missense probably benign 0.14
R7531:Marchf1 UTSW 8 66,838,989 (GRCm39) missense probably benign
R7563:Marchf1 UTSW 8 66,920,965 (GRCm39) missense probably damaging 1.00
R7705:Marchf1 UTSW 8 66,921,169 (GRCm39) missense probably benign 0.00
R8142:Marchf1 UTSW 8 66,908,778 (GRCm39) missense probably benign 0.07
R8337:Marchf1 UTSW 8 66,871,641 (GRCm39) missense probably damaging 1.00
R8712:Marchf1 UTSW 8 66,921,000 (GRCm39) missense probably damaging 1.00
R9188:Marchf1 UTSW 8 66,908,803 (GRCm39) nonsense probably null
R9372:Marchf1 UTSW 8 66,921,145 (GRCm39) missense probably benign 0.01
R9477:Marchf1 UTSW 8 66,871,542 (GRCm39) missense probably damaging 1.00
R9790:Marchf1 UTSW 8 66,729,339 (GRCm39) missense probably benign 0.17
R9791:Marchf1 UTSW 8 66,729,339 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TAAAGTCTACGTCCAACTGTGGC -3'
(R):5'- GGCTCTGCTTCTTGAGATCCTG -3'

Sequencing Primer
(F):5'- TCCAACTGTGGCGCCGG -3'
(R):5'- CTGCTTCTTGAGATCCTGGTCATG -3'
Posted On 2018-11-06