Incidental Mutation 'R4863:Marf1'
ID 374698
Institutional Source Beutler Lab
Gene Symbol Marf1
Ensembl Gene ENSMUSG00000060657
Gene Name meiosis regulator and mRNA stability 1
Synonyms 4921513D23Rik
MMRRC Submission 042473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R4863 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 13927030-13977157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 13950529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 952 (H952Q)
Ref Sequence ENSEMBL: ENSMUSP00000087770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090300]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090300
AA Change: H952Q

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: H952Q

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 noncoding transcript
Transcript: ENSMUST00000183739
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (105/106)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Abcc12 T A 8: 87,265,005 (GRCm39) I647F probably damaging Het
Acnat2 C A 4: 49,380,172 (GRCm39) W384L probably damaging Het
Acvr1 A G 2: 58,367,723 (GRCm39) L146P possibly damaging Het
Ankrd16 T A 2: 11,789,127 (GRCm39) M238K probably benign Het
Clmn A T 12: 104,763,353 (GRCm39) I91N probably damaging Het
Cog8 A T 8: 107,776,806 (GRCm39) L523H probably damaging Het
Cpxm2 T A 7: 131,661,476 (GRCm39) K437M probably benign Het
Dhx57 A T 17: 80,560,540 (GRCm39) V999E probably damaging Het
Dnpep T C 1: 75,285,874 (GRCm39) probably benign Het
Dok3 G A 13: 55,671,270 (GRCm39) R434W probably damaging Het
Dpysl5 C T 5: 30,941,687 (GRCm39) H275Y probably benign Het
Ednra A T 8: 78,394,012 (GRCm39) N361K probably damaging Het
Ei24 A T 9: 36,695,861 (GRCm39) S210R probably damaging Het
Erich3 T A 3: 154,470,441 (GRCm39) V158E unknown Het
Fam193a T A 5: 34,623,549 (GRCm39) V1379E possibly damaging Het
Fasn A G 11: 120,699,654 (GRCm39) V2304A probably damaging Het
Fcgbp A C 7: 27,785,769 (GRCm39) D402A probably benign Het
Fkbp14 T C 6: 54,562,930 (GRCm39) probably benign Het
Fnip1 G A 11: 54,406,382 (GRCm39) V1160I possibly damaging Het
Fsd2 T C 7: 81,202,712 (GRCm39) K289R probably null Het
Fuca2 A T 10: 13,381,651 (GRCm39) D188V probably damaging Het
Gfpt2 T C 11: 49,701,797 (GRCm39) V116A probably benign Het
Gm10770 T A 2: 150,020,816 (GRCm39) K234* probably null Het
Gm9887 A G 12: 69,418,763 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,316,577 (GRCm39) probably benign Het
H2-M10.3 T C 17: 36,677,528 (GRCm39) D250G probably damaging Het
Hapln4 G A 8: 70,537,142 (GRCm39) V26M possibly damaging Het
Hook3 G A 8: 26,528,057 (GRCm39) A611V probably damaging Het
Hr T C 14: 70,809,412 (GRCm39) L1141P probably damaging Het
Ifngr1 T C 10: 19,485,164 (GRCm39) S388P probably damaging Het
Itga3 T A 11: 94,952,793 (GRCm39) Q326L probably damaging Het
Itgb3 T A 11: 104,556,346 (GRCm39) I729N probably damaging Het
Kcnab2 A G 4: 152,486,403 (GRCm39) S132P probably damaging Het
Lama3 C T 18: 12,672,850 (GRCm39) A2481V probably damaging Het
Lama3 T C 18: 12,631,735 (GRCm39) probably benign Het
Lce1e A T 3: 92,615,178 (GRCm39) C56* probably null Het
Lmcd1 T C 6: 112,264,832 (GRCm39) probably benign Het
Lrrc14 T A 15: 76,597,562 (GRCm39) probably null Het
Lypd8l A T 11: 58,503,338 (GRCm39) probably null Het
Map4k5 G A 12: 69,865,212 (GRCm39) P591L probably benign Het
Mapk13 C A 17: 28,995,284 (GRCm39) D168E probably damaging Het
Megf6 T C 4: 154,338,738 (GRCm39) probably null Het
Mical3 T C 6: 121,010,748 (GRCm39) I411M probably damaging Het
Myo5a A T 9: 75,124,789 (GRCm39) K1781N probably damaging Het
N4bp2 T C 5: 65,965,473 (GRCm39) V1174A probably benign Het
Ncdn A T 4: 126,644,216 (GRCm39) L202Q probably damaging Het
Ncor1 T A 11: 62,283,464 (GRCm39) M408L possibly damaging Het
Nf1 T C 11: 79,300,235 (GRCm39) L249P probably damaging Het
Nlrp9b T A 7: 19,783,521 (GRCm39) probably null Het
Nxpe3 A T 16: 55,669,996 (GRCm39) Y370N probably damaging Het
P2rx2 T A 5: 110,489,434 (GRCm39) T167S probably benign Het
Pcdhb19 G T 18: 37,632,161 (GRCm39) R652L probably benign Het
Pcdhga12 T C 18: 37,901,334 (GRCm39) L722P probably benign Het
Pde6a A T 18: 61,378,663 (GRCm39) I329F probably damaging Het
Pdpr T A 8: 111,828,583 (GRCm39) S29T probably benign Het
Pfkfb3 T C 2: 11,491,123 (GRCm39) D173G probably benign Het
Plcd4 A G 1: 74,604,961 (GRCm39) probably null Het
Polr1g T A 7: 19,091,684 (GRCm39) Q141L probably damaging Het
Pou2f2 A G 7: 24,796,533 (GRCm39) probably benign Het
Ppp1r14c TGGCGGCGGCGGCGGCGG TGGCGGCGGCGGCGG 10: 3,316,702 (GRCm39) probably benign Het
Ppp1r42 T C 1: 10,073,611 (GRCm39) probably benign Het
Ptpre C T 7: 135,270,861 (GRCm39) H346Y probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab12 A T 17: 66,805,103 (GRCm39) Y142N probably damaging Het
Rai14 A C 15: 10,572,556 (GRCm39) M857R probably damaging Het
Ranbp2 A G 10: 58,328,243 (GRCm39) K2753R probably damaging Het
Rasa4 A T 5: 136,132,765 (GRCm39) K6* probably null Het
Rasgef1a A G 6: 118,066,100 (GRCm39) M438V probably benign Het
Recql T G 6: 142,304,732 (GRCm39) probably benign Het
Rftn2 A G 1: 55,211,198 (GRCm39) V425A probably benign Het
Ror1 A G 4: 100,267,001 (GRCm39) Y234C probably damaging Het
Sap30l T A 11: 57,696,880 (GRCm39) L70Q probably damaging Het
Scn4a T C 11: 106,210,828 (GRCm39) R1730G probably damaging Het
Serinc5 T G 13: 92,827,488 (GRCm39) I268R probably damaging Het
Sin3b G A 8: 73,471,576 (GRCm39) V432I possibly damaging Het
Slc30a6 T C 17: 74,719,649 (GRCm39) M203T possibly damaging Het
Soat1 T C 1: 156,259,898 (GRCm39) N481S probably damaging Het
Sos2 G A 12: 69,686,928 (GRCm39) T206I probably benign Het
Sp100 G T 1: 85,632,724 (GRCm39) A132S probably benign Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spata31d1c T A 13: 65,183,604 (GRCm39) L382* probably null Het
Stard9 T A 2: 120,531,341 (GRCm39) W2533R probably benign Het
Tas2r126 A G 6: 42,412,324 (GRCm39) T286A probably benign Het
Tedc2 T A 17: 24,436,910 (GRCm39) K275M probably damaging Het
Ten1 A T 11: 116,109,057 (GRCm39) K242N probably benign Het
Thoc2l A T 5: 104,665,616 (GRCm39) D46V possibly damaging Het
Tial1 C T 7: 128,056,752 (GRCm39) V1I probably damaging Het
Tle2 G A 10: 81,424,725 (GRCm39) R649H possibly damaging Het
Tmem178 A G 17: 81,252,374 (GRCm39) D86G probably benign Het
Trim29 T A 9: 43,240,872 (GRCm39) D528E possibly damaging Het
Vmn2r61 A T 7: 41,950,132 (GRCm39) T851S probably benign Het
Vmn2r72 T A 7: 85,399,806 (GRCm39) Q414H possibly damaging Het
Yars1 A T 4: 129,083,675 (GRCm39) probably benign Het
Yipf4 A G 17: 74,801,087 (GRCm39) Q135R probably damaging Het
Zfp341 G A 2: 154,487,786 (GRCm39) probably benign Het
Zfp426 T C 9: 20,381,334 (GRCm39) Y536C probably damaging Het
Zp2 T G 7: 119,734,995 (GRCm39) Y430S 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
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
R7798:Marf1 UTSW 16 13,956,315 (GRCm39) missense probably benign 0.00
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'- AAACAGTGAGCTGACTGACTTC -3'
(R):5'- GGGAAAGCCATTCTGTGTTGTC -3'

Sequencing Primer
(F):5'- CTTCTCAGGAGTGGAAAGCATTC -3'
(R):5'- CTGTGTTGTCTTATTAAACAGGTCAG -3'
Posted On 2016-03-17