Incidental Mutation 'PIT4283001:Marf1'
ID 554382
Institutional Source Beutler Lab
Gene Symbol Marf1
Ensembl Gene ENSMUSG00000060657
Gene Name meiosis regulator and mRNA stability 1
Synonyms 4921513D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # PIT4283001 (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 A at 13946432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1230 (T1230S)
Ref Sequence ENSEMBL: ENSMUSP00000087770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090300]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090300
AA Change: T1230S

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: T1230S

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
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.1%
  • 10x: 86.5%
  • 20x: 76.2%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,093 (GRCm39) M1L probably benign Het
Aacs C A 5: 125,561,719 (GRCm39) A119D probably damaging Het
Abcb1b T A 5: 8,863,693 (GRCm39) V216D probably damaging Het
Adap2 T A 11: 80,068,089 (GRCm39) L367H probably damaging Het
Adcy7 T A 8: 89,042,120 (GRCm39) M373K probably damaging Het
Arhgap31 A G 16: 38,429,354 (GRCm39) L507P probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1b T C 2: 24,521,953 (GRCm39) D1718G probably damaging Het
Cacna2d1 A C 5: 16,507,292 (GRCm39) Y347S probably benign Het
Carf C A 1: 60,167,161 (GRCm39) P165T probably benign Het
Cplx3 T C 9: 57,523,359 (GRCm39) E66G probably damaging Het
Dnaaf5 A G 5: 139,151,917 (GRCm39) T523A probably benign Het
Dnajc10 T C 2: 80,161,739 (GRCm39) S326P probably benign Het
Eif4enif1 A T 11: 3,184,464 (GRCm39) E528D probably damaging Het
Elp2 G A 18: 24,755,187 (GRCm39) D392N probably damaging Het
Fat1 T C 8: 45,482,577 (GRCm39) S3079P probably damaging Het
Fat1 G T 8: 45,490,244 (GRCm39) V3719F probably damaging Het
Fat3 T A 9: 15,917,897 (GRCm39) S1509C possibly damaging Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Frmpd4 C T X: 166,512,030 (GRCm39) R8H possibly damaging Het
Glud1 T A 14: 34,058,129 (GRCm39) I380N probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Gramd1b C T 9: 40,366,752 (GRCm39) G72D probably benign Het
Gramd2b A T 18: 56,622,735 (GRCm39) E299V probably damaging Het
Grin1 C T 2: 25,187,864 (GRCm39) R544H probably damaging Het
Ifitm7 A T 16: 13,801,471 (GRCm39) V96E probably damaging Het
Lsm14b T A 2: 179,674,336 (GRCm39) M293K probably benign Het
Morc2b T A 17: 33,355,042 (GRCm39) H910L probably benign Het
Mylip A G 13: 45,560,110 (GRCm39) N247S possibly damaging Het
Nup50l A G 6: 96,142,696 (GRCm39) I116T probably benign Het
Or4a73 T C 2: 89,420,572 (GRCm39) M296V probably benign Het
Osbpl3 T C 6: 50,323,068 (GRCm39) S264G probably benign Het
Pds5b C T 5: 150,701,774 (GRCm39) R802W probably damaging Het
Pik3cg T C 12: 32,255,864 (GRCm39) E41G probably damaging Het
Plk3 A G 4: 116,990,489 (GRCm39) I112T probably damaging Het
Pwp2 A G 10: 78,020,921 (GRCm39) M1T probably null Het
Rtel1 T C 2: 180,988,683 (GRCm39) I417T probably benign Het
Sirt1 A T 10: 63,157,565 (GRCm39) N616K probably benign Het
Sirt6 T C 10: 81,458,252 (GRCm39) S334G possibly damaging Het
Strc T C 2: 121,205,788 (GRCm39) Y827C probably damaging Het
Taf1b T C 12: 24,597,594 (GRCm39) Y385H possibly damaging Het
Tgm5 T C 2: 120,902,066 (GRCm39) E201G possibly damaging Het
Thbd G C 2: 148,249,003 (GRCm39) N288K probably benign Het
Ush2a T A 1: 188,169,064 (GRCm39) N1068K probably benign Het
Vmn2r52 T C 7: 9,904,756 (GRCm39) E361G possibly damaging Het
Vps13d T C 4: 144,835,158 (GRCm39) N2736S Het
Vwa5b1 A G 4: 138,327,574 (GRCm39) L334P probably damaging Het
Zan A G 5: 137,398,355 (GRCm39) S4226P unknown Het
Zdhhc24 T C 19: 4,928,778 (GRCm39) M1T probably null 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
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
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'- TCCCTTCTTCCAGAGAACACAG -3'
(R):5'- AGCAAGCAGGTCATCGTGAG -3'

Sequencing Primer
(F):5'- CTTCTTCCAGAGAACACAGGTAATG -3'
(R):5'- CGTGAGAGACTTTTCACAGGC -3'
Posted On 2019-06-07