Incidental Mutation 'R0465:Myrf'
ID 41609
Institutional Source Beutler Lab
Gene Symbol Myrf
Ensembl Gene ENSMUSG00000036098
Gene Name myelin regulatory factor
Synonyms Gm98, LOC386531, LOC225908
MMRRC Submission 038665-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R0465 (G1)
Quality Score 141
Status Validated
Chromosome 19
Chromosomal Location 10185636-10218112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 10195526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 428 (T428S)
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: T630S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: T630S

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: T428S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: T428S

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: T630S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: T630S

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 0.0758 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T A 17: 56,092,137 (GRCm39) probably benign Het
Ankrd13a T A 5: 114,942,295 (GRCm39) I526N probably damaging Het
Aox1 G A 1: 58,101,366 (GRCm39) V446I probably damaging Het
Arid1b G A 17: 5,046,535 (GRCm39) G441D possibly damaging Het
Bdkrb2 A T 12: 105,558,118 (GRCm39) N120Y possibly damaging Het
Bud31 G A 5: 145,083,396 (GRCm39) V80I probably damaging Het
Camkmt T A 17: 85,738,950 (GRCm39) F225L probably damaging Het
Carf T C 1: 60,171,142 (GRCm39) M200T probably damaging Het
Carmil3 T C 14: 55,737,318 (GRCm39) L767P probably damaging Het
Cdk14 T A 5: 5,143,019 (GRCm39) R237S probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Cfap65 G A 1: 74,956,043 (GRCm39) R1093C possibly damaging Het
Cnot8 T A 11: 58,004,886 (GRCm39) V195E probably damaging Het
Copa T C 1: 171,945,872 (GRCm39) F936S probably damaging Het
Cstdc1 A G 2: 148,625,345 (GRCm39) N93S probably benign Het
Dnai1 T A 4: 41,629,988 (GRCm39) probably null Het
Dsel T C 1: 111,789,992 (GRCm39) N181S probably benign Het
Enpp7 A G 11: 118,879,607 (GRCm39) N87S probably damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm12695 T C 4: 96,673,312 (GRCm39) Y29C probably damaging Het
Gm5592 T A 7: 40,805,481 (GRCm39) probably benign Het
Gmnc T G 16: 26,781,702 (GRCm39) N109T probably damaging Het
Gstcd A G 3: 132,688,905 (GRCm39) I615T probably benign Het
Hal A C 10: 93,352,146 (GRCm39) K646Q probably benign Het
Hbs1l A G 10: 21,227,940 (GRCm39) I472V probably null Het
Ift27 A T 15: 78,057,958 (GRCm39) probably benign Het
Iqub A T 6: 24,503,783 (GRCm39) I163N probably damaging Het
Isg20l2 T A 3: 87,838,987 (GRCm39) V66E probably benign Het
Itgb4 T C 11: 115,870,582 (GRCm39) M137T probably damaging Het
Lca5 T A 9: 83,277,920 (GRCm39) K475* probably null Het
Lyve1 A G 7: 110,452,034 (GRCm39) probably null Het
Map3k19 T C 1: 127,766,264 (GRCm39) D220G probably damaging Het
Mdn1 T A 4: 32,699,204 (GRCm39) probably benign Het
Mmp15 T C 8: 96,094,626 (GRCm39) W167R probably damaging Het
Ms4a13 A G 19: 11,149,957 (GRCm39) C135R probably benign Het
Myh1 A G 11: 67,101,243 (GRCm39) H673R possibly damaging Het
Oas2 A G 5: 120,873,120 (GRCm39) I645T probably damaging Het
Or52s6 A T 7: 103,092,042 (GRCm39) F96Y possibly damaging Het
Pard3b T G 1: 62,250,877 (GRCm39) probably benign Het
Patj T A 4: 98,423,744 (GRCm39) probably null Het
Pcare A G 17: 72,057,155 (GRCm39) C841R probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pkd1l3 G A 8: 110,350,295 (GRCm39) S380N probably benign Het
Rab34 C A 11: 78,081,337 (GRCm39) C67* probably null Het
Rimbp3 T C 16: 17,029,644 (GRCm39) S1023P possibly damaging Het
Rnf148 T C 6: 23,654,684 (GRCm39) N104S probably benign Het
Rpa1 T C 11: 75,203,921 (GRCm39) T288A probably damaging Het
Scn9a A G 2: 66,357,340 (GRCm39) L976P probably damaging Het
Serpina12 T A 12: 104,004,104 (GRCm39) D176V probably benign Het
Sik1 C T 17: 32,073,996 (GRCm39) V10I possibly damaging Het
Sntb1 C A 15: 55,612,672 (GRCm39) R302L probably benign Het
Stambp A G 6: 83,547,321 (GRCm39) I56T probably benign Het
Tac2 A G 10: 127,565,039 (GRCm39) probably benign Het
Tecta A T 9: 42,270,714 (GRCm39) I1198K possibly damaging Het
Tfip11 C T 5: 112,481,130 (GRCm39) R369C probably benign Het
Tnpo1 A G 13: 99,021,142 (GRCm39) I79T probably damaging Het
Ttll5 A T 12: 85,980,100 (GRCm39) N895Y probably benign Het
Ube2u T A 4: 100,389,293 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r1 T C 3: 63,989,180 (GRCm39) S40P possibly damaging Het
Vmn2r100 G A 17: 19,751,792 (GRCm39) V612I probably damaging Het
Vmn2r59 G T 7: 41,696,332 (GRCm39) H137N probably benign Het
Vsig10l T C 7: 43,116,866 (GRCm39) V467A probably damaging Het
Vwde A G 6: 13,215,805 (GRCm39) probably benign Het
Xrra1 T A 7: 99,528,578 (GRCm39) D139E probably benign Het
Zc3h15 T C 2: 83,494,159 (GRCm39) probably benign Het
Zfhx4 C T 3: 5,310,716 (GRCm39) probably benign Het
Zscan18 A G 7: 12,509,413 (GRCm39) 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
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
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'- ATATCCCAATAGCAGAGGCGCAGG -3'
(R):5'- AGGCCAGTTTGAAAGTGACAGTGAC -3'

Sequencing Primer
(F):5'- GGACCCCAAAGGGTCAATATTTC -3'
(R):5'- AGCTGCCAGATACGGTCTTC -3'
Posted On 2013-05-23