Incidental Mutation 'R7798:Marf1'
ID 600393
Institutional Source Beutler Lab
Gene Symbol Marf1
Ensembl Gene ENSMUSG00000060657
Gene Name meiosis regulator and mRNA stability 1
Synonyms 4921513D23Rik
MMRRC Submission 045648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R7798 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 13927030-13977157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13956315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 842 (H842R)
Ref Sequence ENSEMBL: ENSMUSP00000087770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090300] [ENSMUST00000229614]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090300
AA Change: H842R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: H842R

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 290 305 N/A INTRINSIC
Pfam:NYN 351 492 1.5e-21 PFAM
RRM 511 579 3.17e-1 SMART
low complexity region 599 610 N/A INTRINSIC
RRM 790 864 4.47e-3 SMART
internal_repeat_2 871 914 1.57e-5 PROSPERO
low complexity region 944 960 N/A INTRINSIC
Pfam:OST-HTH 1096 1167 1e-11 PFAM
low complexity region 1181 1186 N/A INTRINSIC
Pfam:OST-HTH 1256 1328 1.2e-10 PFAM
Pfam:OST-HTH 1332 1404 2.4e-10 PFAM
Pfam:OST-HTH 1408 1480 6.8e-13 PFAM
Pfam:OST-HTH 1483 1555 3e-14 PFAM
low complexity region 1682 1701 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229614
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.] This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit female infertility with abnormalities in oogenic processes including meiotic progression, genomic integrity and acquisition of developmental competence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T A 15: 79,019,932 (GRCm39) N128I probably damaging Het
Abca13 A G 11: 9,241,664 (GRCm39) T1176A probably benign Het
Abca9 A G 11: 110,029,005 (GRCm39) V851A probably benign Het
Abcc6 C A 7: 45,626,277 (GRCm39) E1494* probably null Het
Adamts14 A T 10: 61,106,952 (GRCm39) V56E probably damaging Het
Adamts15 G A 9: 30,815,939 (GRCm39) T639M probably damaging Het
Albfm1 T C 5: 90,745,370 (GRCm39) S608P possibly damaging Het
Arhgap11a A C 2: 113,673,680 (GRCm39) V70G probably damaging Het
BC051665 A T 13: 60,932,249 (GRCm39) D113E probably benign Het
Best1 T C 19: 9,969,035 (GRCm39) Y227C probably damaging Het
Camk2b A G 11: 5,928,399 (GRCm39) S447P probably benign Het
Ccdc88a C A 11: 29,427,348 (GRCm39) Q1018K probably benign Het
Cdhr17 T C 5: 17,061,656 (GRCm39) F801L possibly damaging Het
Cfap74 T A 4: 155,507,079 (GRCm39) V180D Het
Clca3a1 T A 3: 144,463,723 (GRCm39) T185S probably damaging Het
Clca3b T C 3: 144,533,891 (GRCm39) S495G probably damaging Het
Cyb5r2 A T 7: 107,353,155 (GRCm39) Y96N possibly damaging Het
Cyp21a1 T C 17: 35,023,295 (GRCm39) K27E probably benign Het
Cyp2ab1 T C 16: 20,131,166 (GRCm39) E321G probably benign Het
Des T C 1: 75,339,003 (GRCm39) I228T probably damaging Het
Dis3l G T 9: 64,248,299 (GRCm39) P39T probably benign Het
Disp2 A C 2: 118,622,360 (GRCm39) I1031L probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Etl4 G A 2: 20,786,757 (GRCm39) probably null Het
Fgf23 A T 6: 127,050,177 (GRCm39) D62V probably damaging Het
Galnt15 C T 14: 31,751,862 (GRCm39) T138I possibly damaging Het
Ggt6 A T 11: 72,326,367 (GRCm39) probably benign Het
Gpr180 T A 14: 118,391,098 (GRCm39) V209D probably damaging Het
Gzma A T 13: 113,232,858 (GRCm39) F78Y probably benign Het
Igkv8-30 A T 6: 70,094,355 (GRCm39) C19S probably benign Het
Il1r1 G A 1: 40,349,526 (GRCm39) V361I probably benign Het
Intu T C 3: 40,646,359 (GRCm39) V598A probably damaging Het
Itpr2 A G 6: 146,287,513 (GRCm39) F471L probably benign Het
Kntc1 T A 5: 123,924,357 (GRCm39) V1081E probably benign Het
Kntc1 T A 5: 123,957,180 (GRCm39) V2163E possibly damaging Het
Macf1 T C 4: 123,271,893 (GRCm39) K6552E probably damaging Het
Mgat4b A G 11: 50,116,497 (GRCm39) T10A possibly damaging Het
Muc21 C G 17: 35,932,146 (GRCm39) G680A unknown Het
Muc5ac T C 7: 141,347,778 (GRCm39) probably null Het
Nrk CGCAGCAGCAGCAGCAGCAGC CGCAGCAGCAGCAGCAGC X: 137,883,426 (GRCm39) probably benign Het
Nsun4 T G 4: 115,908,371 (GRCm39) S730R possibly damaging Het
Or12e1 A T 2: 87,022,636 (GRCm39) I202L probably benign Het
Or12k7 A T 2: 36,959,186 (GRCm39) S290C probably damaging Het
Or1n1 T C 2: 36,750,348 (GRCm39) E4G probably benign Het
Or4f6 A G 2: 111,838,617 (GRCm39) F305L probably benign Het
Or4k15 A T 14: 50,364,895 (GRCm39) Y287F probably damaging Het
Padi3 C T 4: 140,513,750 (GRCm39) E653K probably benign Het
Pde4a A G 9: 21,109,959 (GRCm39) E280G possibly damaging Het
Phactr3 G A 2: 177,925,703 (GRCm39) R326H probably benign Het
Prob1 G A 18: 35,786,397 (GRCm39) P619L possibly damaging Het
Ptk2 G A 15: 73,167,224 (GRCm39) R368W probably damaging Het
Rgs6 A G 12: 83,116,293 (GRCm39) T240A probably benign Het
Rpa1 A T 11: 75,203,635 (GRCm39) Y356N probably damaging Het
Rxrb T A 17: 34,252,579 (GRCm39) D165E probably damaging Het
Sco1 A G 11: 66,944,628 (GRCm39) T84A possibly damaging Het
Sepsecs T C 5: 52,804,531 (GRCm39) I380V probably benign Het
Sfmbt1 T A 14: 30,538,759 (GRCm39) W793R probably damaging Het
Slco3a1 A G 7: 73,968,344 (GRCm39) S459P probably benign Het
Smg1 A T 7: 117,771,162 (GRCm39) S1503R possibly damaging Het
Sox2 G A 3: 34,704,791 (GRCm39) R76H probably damaging Het
Spty2d1 G A 7: 46,645,804 (GRCm39) S613F probably damaging Het
Stab2 A T 10: 86,793,776 (GRCm39) Y440N probably damaging Het
Syn3 A G 10: 85,916,117 (GRCm39) Y290H probably damaging Het
Tex15 C T 8: 34,071,875 (GRCm39) S2474F possibly damaging Het
Tgtp1 A G 11: 48,878,159 (GRCm39) F182S probably benign Het
Tmcc1 A T 6: 116,020,539 (GRCm39) S304R Het
Tmem130 T G 5: 144,680,580 (GRCm39) K275Q probably damaging Het
Tmem9 C A 1: 135,961,927 (GRCm39) T174K probably damaging Het
Ttyh3 C T 5: 140,620,538 (GRCm39) R233Q probably damaging Het
Tut7 A T 13: 59,963,389 (GRCm39) M323K possibly damaging Het
Twnk T C 19: 44,996,107 (GRCm39) M180T probably benign Het
Ube4a A G 9: 44,844,629 (GRCm39) V874A probably damaging Het
Ugt2a3 T C 5: 87,475,582 (GRCm39) N350S probably damaging Het
Vegfa C T 17: 46,342,761 (GRCm39) G19D probably damaging Het
Vmn2r2 C A 3: 64,041,518 (GRCm39) C399F possibly damaging Het
Vmn2r65 G T 7: 84,595,530 (GRCm39) P385T probably benign Het
Vmn2r65 A G 7: 84,596,192 (GRCm39) F164S probably damaging Het
Other mutations in Marf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Marf1 APN 16 13,933,606 (GRCm39) missense possibly damaging 0.49
IGL00933:Marf1 APN 16 13,935,221 (GRCm39) missense probably damaging 1.00
IGL01101:Marf1 APN 16 13,964,600 (GRCm39) missense possibly damaging 0.85
IGL02140:Marf1 APN 16 13,959,776 (GRCm39) missense probably damaging 0.99
IGL03196:Marf1 APN 16 13,958,123 (GRCm39) missense possibly damaging 0.64
PIT4283001:Marf1 UTSW 16 13,946,432 (GRCm39) missense probably benign 0.22
R0016:Marf1 UTSW 16 13,970,129 (GRCm39) missense probably damaging 0.99
R0016:Marf1 UTSW 16 13,970,129 (GRCm39) missense probably damaging 0.99
R0046:Marf1 UTSW 16 13,929,591 (GRCm39) missense possibly damaging 0.83
R0046:Marf1 UTSW 16 13,929,591 (GRCm39) missense possibly damaging 0.83
R0056:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0057:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0058:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0058:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0113:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0115:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0179:Marf1 UTSW 16 13,969,040 (GRCm39) missense probably damaging 1.00
R0238:Marf1 UTSW 16 13,969,147 (GRCm39) missense probably benign 0.00
R0238:Marf1 UTSW 16 13,969,147 (GRCm39) missense probably benign 0.00
R0294:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0295:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0316:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0318:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0375:Marf1 UTSW 16 13,969,184 (GRCm39) splice site probably benign
R0383:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0391:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0504:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0589:Marf1 UTSW 16 13,959,919 (GRCm39) splice site probably benign
R0603:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R0610:Marf1 UTSW 16 13,960,398 (GRCm39) missense probably damaging 1.00
R1240:Marf1 UTSW 16 13,964,626 (GRCm39) missense possibly damaging 0.48
R1445:Marf1 UTSW 16 13,933,688 (GRCm39) missense probably benign
R1716:Marf1 UTSW 16 13,960,450 (GRCm39) missense possibly damaging 0.95
R1921:Marf1 UTSW 16 13,946,465 (GRCm39) missense possibly damaging 0.63
R2098:Marf1 UTSW 16 13,932,064 (GRCm39) missense probably benign 0.00
R2155:Marf1 UTSW 16 13,950,293 (GRCm39) missense probably damaging 0.99
R2177:Marf1 UTSW 16 13,970,471 (GRCm39) missense probably benign 0.01
R2195:Marf1 UTSW 16 13,929,563 (GRCm39) missense probably benign
R2410:Marf1 UTSW 16 13,933,691 (GRCm39) missense probably benign 0.02
R2999:Marf1 UTSW 16 13,960,505 (GRCm39) missense possibly damaging 0.60
R3000:Marf1 UTSW 16 13,960,505 (GRCm39) missense possibly damaging 0.60
R3147:Marf1 UTSW 16 13,943,843 (GRCm39) missense possibly damaging 0.64
R3148:Marf1 UTSW 16 13,943,843 (GRCm39) missense possibly damaging 0.64
R3430:Marf1 UTSW 16 13,958,041 (GRCm39) unclassified probably benign
R3821:Marf1 UTSW 16 13,960,418 (GRCm39) missense probably damaging 1.00
R4383:Marf1 UTSW 16 13,960,505 (GRCm39) missense possibly damaging 0.60
R4384:Marf1 UTSW 16 13,960,505 (GRCm39) missense possibly damaging 0.60
R4520:Marf1 UTSW 16 13,950,530 (GRCm39) missense probably damaging 0.98
R4554:Marf1 UTSW 16 13,971,841 (GRCm39) start gained probably benign
R4557:Marf1 UTSW 16 13,971,841 (GRCm39) start gained probably benign
R4768:Marf1 UTSW 16 13,949,461 (GRCm39) missense possibly damaging 0.93
R4784:Marf1 UTSW 16 13,970,321 (GRCm39) missense probably benign
R4857:Marf1 UTSW 16 13,946,475 (GRCm39) nonsense probably null
R4863:Marf1 UTSW 16 13,950,529 (GRCm39) missense possibly damaging 0.60
R4994:Marf1 UTSW 16 13,932,095 (GRCm39) missense probably benign
R5191:Marf1 UTSW 16 13,963,942 (GRCm39) missense probably damaging 1.00
R5503:Marf1 UTSW 16 13,970,095 (GRCm39) missense probably damaging 0.99
R5813:Marf1 UTSW 16 13,970,449 (GRCm39) missense probably benign 0.35
R5905:Marf1 UTSW 16 13,945,113 (GRCm39) missense probably damaging 0.99
R5960:Marf1 UTSW 16 13,970,281 (GRCm39) missense probably damaging 0.98
R6104:Marf1 UTSW 16 13,935,319 (GRCm39) missense probably damaging 0.99
R6387:Marf1 UTSW 16 13,959,504 (GRCm39) makesense probably null
R6533:Marf1 UTSW 16 13,933,663 (GRCm39) missense probably benign 0.16
R6608:Marf1 UTSW 16 13,950,578 (GRCm39) missense probably damaging 1.00
R6642:Marf1 UTSW 16 13,950,611 (GRCm39) missense probably benign 0.02
R6954:Marf1 UTSW 16 13,956,384 (GRCm39) missense probably damaging 1.00
R6994:Marf1 UTSW 16 13,946,721 (GRCm39) missense probably damaging 1.00
R7010:Marf1 UTSW 16 13,954,865 (GRCm39) missense probably damaging 0.99
R7090:Marf1 UTSW 16 13,929,566 (GRCm39) missense possibly damaging 0.52
R7174:Marf1 UTSW 16 13,954,817 (GRCm39) missense probably damaging 1.00
R7221:Marf1 UTSW 16 13,960,349 (GRCm39) missense probably damaging 1.00
R7247:Marf1 UTSW 16 13,944,957 (GRCm39) missense probably damaging 1.00
R7557:Marf1 UTSW 16 13,950,560 (GRCm39) missense probably damaging 1.00
R7807:Marf1 UTSW 16 13,971,753 (GRCm39) nonsense probably null
R7855:Marf1 UTSW 16 13,932,065 (GRCm39) missense probably benign 0.27
R7867:Marf1 UTSW 16 13,946,470 (GRCm39) missense probably damaging 0.97
R7893:Marf1 UTSW 16 13,964,599 (GRCm39) missense probably damaging 1.00
R8291:Marf1 UTSW 16 13,950,432 (GRCm39) critical splice donor site probably null
R8746:Marf1 UTSW 16 13,935,168 (GRCm39) missense probably benign 0.18
R8842:Marf1 UTSW 16 13,935,169 (GRCm39) missense probably damaging 1.00
R9253:Marf1 UTSW 16 13,935,172 (GRCm39) missense probably damaging 1.00
R9350:Marf1 UTSW 16 13,963,789 (GRCm39) missense probably damaging 1.00
R9440:Marf1 UTSW 16 13,938,196 (GRCm39) missense probably benign 0.01
R9460:Marf1 UTSW 16 13,947,526 (GRCm39) missense probably damaging 1.00
R9658:Marf1 UTSW 16 13,958,087 (GRCm39) missense probably damaging 1.00
R9698:Marf1 UTSW 16 13,967,077 (GRCm39) missense probably benign 0.00
U24488:Marf1 UTSW 16 13,950,230 (GRCm39) nonsense probably null
X0025:Marf1 UTSW 16 13,932,142 (GRCm39) missense probably damaging 1.00
Z1176:Marf1 UTSW 16 13,933,641 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCATTATTGCATACAGGAGGAATGG -3'
(R):5'- TTCACTCTGGTCACTTGCAG -3'

Sequencing Primer
(F):5'- TATTGCATACAGGAGGAATGGGAATG -3'
(R):5'- GCAGTATCTCATTCAGACAAGTGAC -3'
Posted On 2019-11-26