Incidental Mutation 'R5191:Marf1'
ID 398207
Institutional Source Beutler Lab
Gene Symbol Marf1
Ensembl Gene ENSMUSG00000060657
Gene Name meiosis regulator and mRNA stability 1
Synonyms 4921513D23Rik
MMRRC Submission 043263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5191 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 13927030-13977157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13963942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 454 (F454L)
Ref Sequence ENSEMBL: ENSMUSP00000087770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090300] [ENSMUST00000229614]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090300
AA Change: F454L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087770
Gene: ENSMUSG00000060657
AA Change: F454L

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 damaging
Transcript: ENSMUST00000229614
AA Change: F275L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231032
Meta Mutation Damage Score 0.4136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (69/69)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A G 15: 101,034,946 (GRCm39) E235G probably damaging Het
Adam26b T C 8: 43,973,028 (GRCm39) D658G probably damaging Het
Adamts12 A G 15: 11,327,843 (GRCm39) R1407G probably benign Het
Aknad1 T C 3: 108,659,306 (GRCm39) S107P probably benign Het
Aknad1 G A 3: 108,659,867 (GRCm39) V294I probably benign Het
Arfgef2 A G 2: 166,718,431 (GRCm39) T1407A probably damaging Het
Atp5f1a C T 18: 77,867,929 (GRCm39) P318S probably damaging Het
Atp9a C T 2: 168,503,983 (GRCm39) V494M possibly damaging Het
Ccdc69 A T 11: 54,943,719 (GRCm39) probably null Het
Crh T C 3: 19,748,093 (GRCm39) E183G probably damaging Het
Cyp2c40 A C 19: 39,791,035 (GRCm39) N265K probably damaging Het
D630003M21Rik C T 2: 158,042,955 (GRCm39) A862T probably benign Het
Dact3 T G 7: 16,609,375 (GRCm39) V9G probably damaging Het
Dnaaf9 A T 2: 130,579,323 (GRCm39) I638N possibly damaging Het
Dnah8 A G 17: 30,965,739 (GRCm39) E2357G probably damaging Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Etl4 G T 2: 20,344,810 (GRCm39) S38I probably damaging Het
Fyb2 G T 4: 104,852,994 (GRCm39) C558F possibly damaging Het
Galnt3 T C 2: 65,924,050 (GRCm39) E406G probably damaging Het
Golga3 T A 5: 110,332,173 (GRCm39) probably benign Het
Gpr179 T A 11: 97,228,975 (GRCm39) Q1060L possibly damaging Het
Havcr1 A T 11: 46,647,024 (GRCm39) I153F probably benign Het
Hnrnpc A T 14: 52,314,964 (GRCm39) V141E probably damaging Het
Kcnj2 C T 11: 110,963,297 (GRCm39) Q230* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Limch1 T C 5: 67,184,904 (GRCm39) L631P probably damaging Het
Lpin1 T C 12: 16,630,829 (GRCm39) N23S possibly damaging Het
Macf1 A G 4: 123,366,755 (GRCm39) S1104P probably benign Het
Man2b1 A G 8: 85,811,088 (GRCm39) D73G probably damaging Het
Mcpt4 T A 14: 56,298,466 (GRCm39) I90L probably benign Het
Mfsd4b5 T C 10: 39,846,668 (GRCm39) E304G probably damaging Het
Mst1r G A 9: 107,788,750 (GRCm39) R423H probably damaging Het
Muc20 G A 16: 32,614,846 (GRCm39) S177L unknown Het
Muc5b A G 7: 141,412,276 (GRCm39) T1741A unknown Het
Myo1g C T 11: 6,465,105 (GRCm39) A447T probably benign Het
Nr1h2 C A 7: 44,199,840 (GRCm39) A360S probably damaging Het
Nufip1 A G 14: 76,349,429 (GRCm39) K154E probably damaging Het
Or12k8 T G 2: 36,974,990 (GRCm39) M257L probably benign Het
Or2a54 T A 6: 43,092,800 (GRCm39) N41K probably damaging Het
Or7e166 G A 9: 19,624,630 (GRCm39) C169Y probably damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pkd2 G A 5: 104,634,547 (GRCm39) R526Q probably benign Het
Plec T C 15: 76,059,365 (GRCm39) E3551G probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sarm1 G A 11: 78,387,945 (GRCm39) Q114* probably null Het
Sec31a T C 5: 100,553,370 (GRCm39) E112G possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a2 G T 1: 40,783,053 (GRCm39) R439L probably damaging Het
Sptb C A 12: 76,659,608 (GRCm39) E1097D probably benign Het
Stk38 A C 17: 29,193,344 (GRCm39) C362G probably benign Het
Stmn2 A T 3: 8,610,635 (GRCm39) M40L probably benign Het
Sytl2 A T 7: 90,024,860 (GRCm39) T283S probably damaging Het
Tcf4 A G 18: 69,775,954 (GRCm39) S48G probably damaging Het
Tlr4 A T 4: 66,759,616 (GRCm39) H803L probably damaging Het
Ttn C T 2: 76,709,432 (GRCm39) probably benign Het
Tyk2 G T 9: 21,018,793 (GRCm39) Q1099K probably damaging Het
Usp30 C T 5: 114,203,755 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,447 (GRCm39) V60A possibly damaging Het
Zc3h12d C A 10: 7,743,582 (GRCm39) P451T possibly damaging Het
Zeb2 T C 2: 44,892,612 (GRCm39) S146G probably benign Het
Zfp236 T A 18: 82,639,548 (GRCm39) N1233I probably damaging Het
Zfp954 A G 7: 7,119,022 (GRCm39) V174A probably damaging Het
Zswim1 G A 2: 164,667,939 (GRCm39) S397N probably benign 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
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'- GCTTTCCATTGGACTAGGCAG -3'
(R):5'- GTCATGCTAACCCTTCGAGAG -3'

Sequencing Primer
(F):5'- GGCAGTCTCTCTGTCTCCAAAATC -3'
(R):5'- GAAATGTGCTCTTGTTCAAAAGGG -3'
Posted On 2016-07-06