Incidental Mutation 'R3964:Myrf'
ID 312283
Institutional Source Beutler Lab
Gene Symbol Myrf
Ensembl Gene ENSMUSG00000036098
Gene Name myelin regulatory factor
Synonyms Gm98, LOC386531, LOC225908
MMRRC Submission 040933-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R3964 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10185636-10218112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10196979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 267 (E267G)
Ref Sequence ENSEMBL: ENSMUSP00000140871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088013] [ENSMUST00000186056] [ENSMUST00000189897]
AlphaFold Q3UR85
Predicted Effect probably benign
Transcript: ENSMUST00000088013
AA Change: E469G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: E469G

DomainStartEndE-ValueType
low complexity region 67 99 N/A INTRINSIC
low complexity region 177 199 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
low complexity region 285 306 N/A INTRINSIC
low complexity region 320 346 N/A INTRINSIC
Pfam:NDT80_PhoG 393 540 7.6e-31 PFAM
Pfam:Peptidase_S74 587 647 5.3e-16 PFAM
Pfam:MRF_C1 667 702 8.3e-26 PFAM
low complexity region 773 784 N/A INTRINSIC
low complexity region 847 884 N/A INTRINSIC
Pfam:MRF_C2 977 1111 1.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186056
AA Change: E267G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: E267G

DomainStartEndE-ValueType
low complexity region 83 104 N/A INTRINSIC
low complexity region 118 144 N/A INTRINSIC
Pfam:NDT80_PhoG 191 338 6.9e-28 PFAM
Pfam:Peptidase_S74 385 445 1.2e-12 PFAM
Pfam:MRF_C1 465 500 1.4e-23 PFAM
low complexity region 571 582 N/A INTRINSIC
low complexity region 672 709 N/A INTRINSIC
Pfam:MRF_C2 801 936 7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186854
Predicted Effect probably benign
Transcript: ENSMUST00000189897
AA Change: E469G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: E469G

DomainStartEndE-ValueType
low complexity region 67 99 N/A INTRINSIC
low complexity region 177 199 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
low complexity region 285 306 N/A INTRINSIC
low complexity region 320 346 N/A INTRINSIC
Pfam:NDT80_PhoG 393 540 7.6e-31 PFAM
Pfam:Peptidase_S74 587 647 1.1e-15 PFAM
Pfam:MRF_C1 667 702 1.1e-26 PFAM
low complexity region 773 784 N/A INTRINSIC
low complexity region 847 884 N/A INTRINSIC
Pfam:MRF_C2 976 1111 5.5e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190922
Meta Mutation Damage Score 0.1524 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (64/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C A 12: 81,607,583 (GRCm39) A60S possibly damaging Het
Arpp21 C G 9: 111,894,844 (GRCm39) V805L probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
Cdh18 A T 15: 23,474,187 (GRCm39) T686S probably benign Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cttnbp2nl T C 3: 104,913,321 (GRCm39) K188E probably damaging Het
Cux1 A G 5: 136,311,796 (GRCm39) V1180A probably damaging Het
Cux2 G T 5: 122,025,539 (GRCm39) S43* probably null Het
Dhx57 T A 17: 80,572,541 (GRCm39) K711* probably null Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Gadl1 T C 9: 115,794,676 (GRCm39) S284P probably damaging Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsdmc2 A G 15: 63,721,683 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,449,320 (GRCm39) T110A probably benign Het
Il23r G A 6: 67,443,281 (GRCm39) T274I probably benign Het
Inhbb C A 1: 119,345,291 (GRCm39) G333W probably damaging Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Lrp1b A G 2: 41,202,482 (GRCm39) probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Mrs2 A G 13: 25,185,746 (GRCm39) I142T possibly damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Muc5b A T 7: 141,420,705 (GRCm39) I4191F possibly damaging Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Nmi T C 2: 51,846,081 (GRCm39) E67G possibly damaging Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1j4 A G 2: 36,740,729 (GRCm39) T224A probably benign Het
Or8b1b T C 9: 38,375,979 (GRCm39) I214T probably benign Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pcdhga12 A T 18: 37,900,254 (GRCm39) Q362L probably benign Het
Peak1 C T 9: 56,167,263 (GRCm39) E222K probably damaging Het
Pik3r1 T C 13: 101,825,193 (GRCm39) E458G possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Plxdc2 T A 2: 16,665,651 (GRCm39) F284I probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppfia4 A T 1: 134,250,754 (GRCm39) D478E probably benign Het
Ptprd A G 4: 75,978,073 (GRCm39) probably benign Het
Ptprj A G 2: 90,298,785 (GRCm39) I315T probably benign Het
Rims1 T C 1: 22,497,709 (GRCm39) probably null Het
Rnf13 G A 3: 57,676,533 (GRCm39) G63S probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shld2 T A 14: 33,981,644 (GRCm39) Q498L probably damaging Het
Slc50a1 T C 3: 89,176,093 (GRCm39) I151V probably benign Het
Snx27 T A 3: 94,438,613 (GRCm39) R207S probably damaging Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Tbc1d9b A G 11: 50,059,523 (GRCm39) E975G possibly damaging Het
Tbccd1 A G 16: 22,660,523 (GRCm39) S98P probably damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Usp19 T A 9: 108,375,228 (GRCm39) V818E probably damaging Het
Wdr38 A G 2: 38,889,362 (GRCm39) Y51C probably damaging Het
Zfp456 T C 13: 67,514,900 (GRCm39) T269A probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Myrf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Myrf APN 19 10,201,877 (GRCm39) missense probably benign 0.30
IGL01132:Myrf APN 19 10,200,569 (GRCm39) missense probably damaging 1.00
IGL01958:Myrf APN 19 10,187,742 (GRCm39) unclassified probably benign
IGL02154:Myrf APN 19 10,193,482 (GRCm39) missense probably damaging 0.98
IGL02370:Myrf APN 19 10,191,504 (GRCm39) missense probably benign
IGL02584:Myrf APN 19 10,189,587 (GRCm39) splice site probably benign
IGL02817:Myrf APN 19 10,202,816 (GRCm39) missense probably benign 0.45
R0312:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0367:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0389:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0416:Myrf UTSW 19 10,193,176 (GRCm39) critical splice acceptor site probably null
R0446:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0464:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0465:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0487:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0533:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0534:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R0570:Myrf UTSW 19 10,189,161 (GRCm39) missense probably damaging 1.00
R0622:Myrf UTSW 19 10,200,816 (GRCm39) missense probably damaging 0.99
R0631:Myrf UTSW 19 10,206,246 (GRCm39) missense probably benign 0.00
R0721:Myrf UTSW 19 10,193,444 (GRCm39) missense probably damaging 1.00
R0848:Myrf UTSW 19 10,195,526 (GRCm39) missense probably benign 0.00
R1056:Myrf UTSW 19 10,200,850 (GRCm39) missense probably benign 0.11
R1574:Myrf UTSW 19 10,202,851 (GRCm39) missense probably damaging 1.00
R1574:Myrf UTSW 19 10,202,851 (GRCm39) missense probably damaging 1.00
R1801:Myrf UTSW 19 10,191,555 (GRCm39) missense probably benign 0.03
R1897:Myrf UTSW 19 10,195,596 (GRCm39) missense probably benign 0.05
R1950:Myrf UTSW 19 10,195,554 (GRCm39) missense possibly damaging 0.93
R1957:Myrf UTSW 19 10,197,160 (GRCm39) missense probably benign 0.04
R2089:Myrf UTSW 19 10,201,964 (GRCm39) missense possibly damaging 0.48
R2091:Myrf UTSW 19 10,201,964 (GRCm39) missense possibly damaging 0.48
R2091:Myrf UTSW 19 10,201,964 (GRCm39) missense possibly damaging 0.48
R2139:Myrf UTSW 19 10,193,831 (GRCm39) missense probably damaging 0.98
R2144:Myrf UTSW 19 10,206,038 (GRCm39) missense probably benign 0.05
R3932:Myrf UTSW 19 10,195,515 (GRCm39) missense probably damaging 1.00
R3966:Myrf UTSW 19 10,196,979 (GRCm39) missense probably benign 0.03
R3970:Myrf UTSW 19 10,200,601 (GRCm39) missense probably damaging 1.00
R4607:Myrf UTSW 19 10,206,431 (GRCm39) missense probably damaging 1.00
R4746:Myrf UTSW 19 10,195,955 (GRCm39) missense probably damaging 0.99
R5117:Myrf UTSW 19 10,189,857 (GRCm39) missense probably damaging 1.00
R5598:Myrf UTSW 19 10,192,654 (GRCm39) missense probably benign 0.00
R5719:Myrf UTSW 19 10,194,087 (GRCm39) missense probably damaging 1.00
R5841:Myrf UTSW 19 10,200,911 (GRCm39) missense probably null 1.00
R5994:Myrf UTSW 19 10,196,481 (GRCm39) missense probably null 1.00
R6148:Myrf UTSW 19 10,189,839 (GRCm39) missense probably damaging 0.99
R6229:Myrf UTSW 19 10,197,162 (GRCm39) missense probably benign 0.19
R6477:Myrf UTSW 19 10,206,149 (GRCm39) missense probably benign 0.41
R6623:Myrf UTSW 19 10,200,723 (GRCm39) missense probably benign 0.13
R6878:Myrf UTSW 19 10,193,842 (GRCm39) missense possibly damaging 0.80
R6932:Myrf UTSW 19 10,196,924 (GRCm39) missense probably damaging 1.00
R7127:Myrf UTSW 19 10,192,705 (GRCm39) missense probably benign 0.01
R7162:Myrf UTSW 19 10,196,010 (GRCm39) missense possibly damaging 0.75
R7553:Myrf UTSW 19 10,206,240 (GRCm39) missense probably benign
R7585:Myrf UTSW 19 10,194,091 (GRCm39) missense probably damaging 1.00
R7838:Myrf UTSW 19 10,196,983 (GRCm39) missense possibly damaging 0.55
R8340:Myrf UTSW 19 10,192,705 (GRCm39) missense probably benign 0.01
R8712:Myrf UTSW 19 10,192,434 (GRCm39) missense probably benign 0.38
R8876:Myrf UTSW 19 10,206,378 (GRCm39) splice site probably benign
R8932:Myrf UTSW 19 10,200,931 (GRCm39) missense probably benign 0.03
R9111:Myrf UTSW 19 10,191,421 (GRCm39) critical splice donor site probably null
R9496:Myrf UTSW 19 10,193,840 (GRCm39) missense probably benign 0.19
R9648:Myrf UTSW 19 10,188,010 (GRCm39) missense possibly damaging 0.75
X0028:Myrf UTSW 19 10,189,522 (GRCm39) missense probably damaging 1.00
Z1088:Myrf UTSW 19 10,198,662 (GRCm39) missense probably damaging 1.00
Z1177:Myrf UTSW 19 10,196,908 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGAAGTAGGCCATTTGTGGAC -3'
(R):5'- ACAGAAGCAAGAGGCCCTTC -3'

Sequencing Primer
(F):5'- ACTTGGGACTGGCATGCTC -3'
(R):5'- ACGTGAGTATCCAGCGCTGTG -3'
Posted On 2015-04-29