Incidental Mutation 'R0464:Myrf'
ID 71462
Institutional Source Beutler Lab
Gene Symbol Myrf
Ensembl Gene ENSMUSG00000036098
Gene Name myelin regulatory factor
Synonyms Gm98, LOC386531, LOC225908
MMRRC Submission 038664-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R0464 (G1)
Quality Score 225
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada G T 2: 163,574,884 (GRCm39) Y84* probably null Het
Adar T A 3: 89,642,889 (GRCm39) C257S possibly damaging Het
Adgrd1 G T 5: 129,239,714 (GRCm39) C507F probably damaging Het
Atp5f1a T C 18: 77,867,622 (GRCm39) Y299H probably benign Het
Bok G T 1: 93,621,935 (GRCm39) R77L probably damaging Het
Cdx2 C A 5: 147,243,283 (GRCm39) K170N possibly damaging Het
Ceacam1 A G 7: 25,171,442 (GRCm39) S341P possibly damaging Het
Cfhr3 A T 1: 139,521,683 (GRCm39) noncoding transcript Het
Ckap5 A G 2: 91,409,858 (GRCm39) I947V probably benign Het
Clec2i T C 6: 128,872,386 (GRCm39) Y173H probably damaging Het
Cttnbp2 T C 6: 18,408,690 (GRCm39) D977G possibly damaging Het
Cyp2f2 C A 7: 26,831,962 (GRCm39) Q406K probably benign Het
Ddx28 A G 8: 106,736,685 (GRCm39) S458P probably damaging Het
Dppa3 T A 6: 122,605,492 (GRCm39) probably null Het
Dusp10 C A 1: 183,801,273 (GRCm39) L347I probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fbxl15 A T 19: 46,316,951 (GRCm39) E13D probably benign Het
Fhit T A 14: 10,991,567 (GRCm38) probably benign Het
Fras1 G T 5: 96,784,662 (GRCm39) V882F probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gabbr1 C T 17: 37,361,726 (GRCm39) probably benign Het
Ganc T A 2: 120,267,175 (GRCm39) V497D probably benign Het
Glt8d2 T G 10: 82,490,564 (GRCm39) H242P possibly damaging Het
Gna15 T C 10: 81,348,338 (GRCm39) Y131C probably benign Het
Gpatch8 T C 11: 102,371,712 (GRCm39) K609E unknown Het
Gprc5a A T 6: 135,056,413 (GRCm39) K287* probably null Het
Iqub T A 6: 24,479,262 (GRCm39) K427* probably null Het
Itpr2 C G 6: 146,277,387 (GRCm39) D666H probably damaging Het
Kcnj5 T C 9: 32,234,269 (GRCm39) I15M possibly damaging Het
Kcnn2 A G 18: 45,693,426 (GRCm39) E334G probably damaging Het
Lypd6 T A 2: 50,080,690 (GRCm39) I126N probably damaging Het
Ms4a20 A G 19: 11,089,801 (GRCm39) L28P probably damaging Het
Mtus1 T C 8: 41,455,511 (GRCm39) D56G probably damaging Het
Myo1h A G 5: 114,498,571 (GRCm39) D889G probably damaging Het
Nab1 T C 1: 52,529,174 (GRCm39) D241G possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncbp3 C T 11: 72,960,647 (GRCm39) probably benign Het
Nek1 T A 8: 61,525,307 (GRCm39) probably benign Het
Nf1 T C 11: 79,447,615 (GRCm39) V2452A probably benign Het
Nlrp1b A C 11: 71,109,070 (GRCm39) S144A probably damaging Het
Npr2 A T 4: 43,640,597 (GRCm39) probably null Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC "TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" X: 142,526,889 (GRCm39) probably benign Het
Paox T A 7: 139,709,195 (GRCm39) probably benign Het
Pcdh15 T A 10: 74,462,676 (GRCm39) probably null Het
Pde8b G A 13: 95,241,206 (GRCm39) T202M probably damaging Het
Pigo A T 4: 43,019,814 (GRCm39) V905D probably benign Het
Pik3cb A G 9: 98,926,796 (GRCm39) probably null Het
Rassf5 T C 1: 131,139,998 (GRCm39) N87S probably benign Het
Rbl1 C A 2: 156,989,465 (GRCm39) K1051N probably damaging Het
Rfx7 T C 9: 72,525,486 (GRCm39) V892A probably damaging Het
Ripply1 TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT TTCCTCCTCCTCCTCCTCCTCCTCCTCCT X: 138,680,599 (GRCm39) probably benign Het
Rnf144b T A 13: 47,396,363 (GRCm39) Y233* probably null Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Sbf2 T C 7: 110,063,783 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,253 (GRCm39) K85N probably damaging Het
Siglec1 A T 2: 130,921,279 (GRCm39) C631S probably damaging Het
Simc1 C T 13: 54,684,913 (GRCm39) R50* probably null Het
Skint5 T A 4: 113,392,928 (GRCm39) M1235L unknown Het
Slc22a19 A T 19: 7,660,278 (GRCm39) N377K probably benign Het
Spata31d1a A G 13: 59,849,573 (GRCm39) F852L possibly damaging Het
Spata31e3 A G 13: 50,402,311 (GRCm39) probably benign Het
Srbd1 G A 17: 86,427,430 (GRCm39) S401F probably damaging Het
Stk36 C A 1: 74,650,331 (GRCm39) Q288K probably damaging Het
Styx T C 14: 45,609,908 (GRCm39) S191P probably benign Het
Supt6 T A 11: 78,107,164 (GRCm39) N1214I probably benign Het
Tcim T A 8: 24,928,644 (GRCm39) D90V probably damaging Het
Tdpoz1 T A 3: 93,578,782 (GRCm39) M1L probably damaging Het
Tep1 T A 14: 51,085,141 (GRCm39) T881S probably benign Het
Tlr5 C T 1: 182,801,275 (GRCm39) A193V probably benign Het
Tmem117 T A 15: 94,612,800 (GRCm39) F112Y probably damaging Het
Tnrc6c C T 11: 117,651,375 (GRCm39) R1633W probably damaging Het
Trh T C 6: 92,220,649 (GRCm39) probably null Het
Triobp A G 15: 78,851,186 (GRCm39) R447G possibly damaging Het
Trip6 A G 5: 137,311,943 (GRCm39) F46S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Usp33 T C 3: 152,081,872 (GRCm39) probably benign Het
Vmn2r60 A T 7: 41,785,255 (GRCm39) I156F probably damaging Het
Wdr17 T C 8: 55,123,427 (GRCm39) probably benign Het
Wdr35 G T 12: 9,077,472 (GRCm39) probably benign Het
Wwp1 C T 4: 19,638,763 (GRCm39) probably benign Het
Zfp652 T C 11: 95,654,475 (GRCm39) C293R probably damaging 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
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
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'- GGCCAGTTTGAAAGTGACAGTGACG -3'

Sequencing Primer
(F):5'- GGACCCCAAAGGGTCAATATTTC -3'
(R):5'- AGCTGCCAGATACGGTCTTC -3'
Posted On 2013-09-30