Incidental Mutation 'R6148:Myrf'
ID 489044
Institutional Source Beutler Lab
Gene Symbol Myrf
Ensembl Gene ENSMUSG00000036098
Gene Name myelin regulatory factor
Synonyms Gm98, LOC386531, LOC225908
MMRRC Submission 044295-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R6148 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 10185636-10218112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10189839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 815 (T815I)
Ref Sequence ENSEMBL: ENSMUSP00000140871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040372] [ENSMUST00000088013] [ENSMUST00000166412] [ENSMUST00000186056] [ENSMUST00000189897]
AlphaFold Q3UR85
Predicted Effect probably benign
Transcript: ENSMUST00000040372
SMART Domains Protein: ENSMUSP00000044751
Gene: ENSMUSG00000036372

DomainStartEndE-ValueType
Pfam:UPF0197 3 79 3.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088013
AA Change: T1016I

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: T1016I

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 noncoding transcript
Transcript: ENSMUST00000127878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153854
Predicted Effect probably benign
Transcript: ENSMUST00000166412
SMART Domains Protein: ENSMUSP00000128883
Gene: ENSMUSG00000036372

DomainStartEndE-ValueType
Pfam:UPF0197 1 74 2.1e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186056
AA Change: T815I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: T815I

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: ENSMUST00000189897
AA Change: T990I

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: T990I

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 possibly damaging
Transcript: ENSMUST00000186854
AA Change: T354I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190922
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 95% (61/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,234,200 (GRCm39) C1067S possibly damaging Het
AAdacl4fm3 T C 4: 144,447,887 (GRCm39) T30A possibly damaging Het
Agbl3 T A 6: 34,834,688 (GRCm39) S952R possibly damaging Het
Ano9 A G 7: 140,686,698 (GRCm39) Y429H probably damaging Het
Bbs7 C A 3: 36,667,415 (GRCm39) R7L probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Catsper4 A G 4: 133,945,240 (GRCm39) V206A probably damaging Het
Ccdc73 T G 2: 104,822,482 (GRCm39) S810R possibly damaging Het
Cd177 A T 7: 24,443,698 (GRCm39) L800* probably null Het
Cd34 T C 1: 194,630,316 (GRCm39) probably null Het
Cep78 G A 19: 15,959,150 (GRCm39) R95* probably null Het
Cfap69 T C 5: 5,713,996 (GRCm39) D12G probably benign Het
Cpne7 A G 8: 123,854,171 (GRCm39) D286G probably benign Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cxcl5 A T 5: 90,907,565 (GRCm39) I46L probably benign Het
Cyp19a1 C T 9: 54,087,540 (GRCm39) G59D probably damaging Het
Dclre1c A G 2: 3,438,742 (GRCm39) D35G probably damaging Het
Defa41 A G 8: 21,692,428 (GRCm39) N83S probably benign Het
Dvl1 A G 4: 155,939,409 (GRCm39) Y279C probably damaging Het
Fes A G 7: 80,030,044 (GRCm39) L578P probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fmn2 T C 1: 174,494,229 (GRCm39) S1248P probably damaging Het
Fmo1 T G 1: 162,679,088 (GRCm39) S53R probably damaging Het
Gabrg1 A T 5: 70,931,804 (GRCm39) M313K probably damaging Het
Galnt10 T C 11: 57,675,474 (GRCm39) C578R probably damaging Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Gsap A G 5: 21,431,323 (GRCm39) R216G probably damaging Het
Gsap A T 5: 21,475,575 (GRCm39) T570S probably benign Het
Gucy2d A T 7: 98,093,030 (GRCm39) I136L probably benign Het
Hap1 A T 11: 100,240,218 (GRCm39) V294E probably damaging Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Irf5 T C 6: 29,535,958 (GRCm39) L324P probably damaging Het
Itsn1 C T 16: 91,613,740 (GRCm39) R251C probably damaging Het
Klf11 T C 12: 24,701,567 (GRCm39) probably null Het
Kpna6 G A 4: 129,543,099 (GRCm39) Q439* probably null Het
Mark4 A T 7: 19,163,441 (GRCm39) S563T probably benign Het
Mrpl21 A T 19: 3,333,084 (GRCm39) I5L probably benign Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Olfr515-ps1 A T 7: 108,444,178 (GRCm39) probably null Het
Or10d4c G T 9: 39,558,555 (GRCm39) D178Y probably damaging Het
Or11g27 A G 14: 50,771,778 (GRCm39) N303S probably benign Het
Or4c15 C T 2: 88,760,597 (GRCm39) V21I probably benign Het
Or52n3 A G 7: 104,530,289 (GRCm39) Y125C possibly damaging Het
Os9 T C 10: 126,935,812 (GRCm39) D280G probably benign Het
Pcdhb14 A G 18: 37,582,283 (GRCm39) N463S probably damaging Het
Pex19 G A 1: 171,961,606 (GRCm39) E271K probably damaging Het
Ppdpf G A 2: 180,829,641 (GRCm39) S32N probably benign Het
Prdm2 A G 4: 142,859,477 (GRCm39) I1271T probably benign Het
Rbbp4 T C 4: 129,215,751 (GRCm39) T262A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sult1e1 A T 5: 87,727,770 (GRCm39) S171T probably damaging Het
Tns1 T C 1: 73,992,612 (GRCm39) T689A probably damaging Het
Unc13c G C 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r52 T C 7: 9,905,090 (GRCm39) I250V probably benign Het
Vmn2r55 C A 7: 12,402,069 (GRCm39) L406F probably benign Het
Wdcp T C 12: 4,900,621 (GRCm39) V159A possibly damaging Het
Zbtb3 C T 19: 8,781,560 (GRCm39) A391V probably benign Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T 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
R3964:Myrf UTSW 19 10,196,979 (GRCm39) missense probably benign 0.03
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
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'- TCATGCTATACTGAAGCCTGAGG -3'
(R):5'- AACTAGCTGGTCCTAGAGCTG -3'

Sequencing Primer
(F):5'- TGCTATACTGAAGCCTGAGGAAATG -3'
(R):5'- TAGAGCTGCCCGGAGAG -3'
Posted On 2017-10-10