Incidental Mutation 'R0570:Myrf'
ID 46423
Institutional Source Beutler Lab
Gene Symbol Myrf
Ensembl Gene ENSMUSG00000036098
Gene Name myelin regulatory factor
Synonyms Gm98, LOC386531, LOC225908
MMRRC Submission 038761-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R0570 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10185636-10218112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10189161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 857 (S857P)
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 damaging
Transcript: ENSMUST00000088013
AA Change: S1058P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: S1058P

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: S857P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: S857P

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 unknown
Transcript: ENSMUST00000186854
AA Change: S396P
Predicted Effect probably damaging
Transcript: ENSMUST00000189897
AA Change: S1032P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: S1032P

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 0.0771 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (85/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik C A 8: 84,729,733 (GRCm39) probably benign Het
Aadacl3 C T 4: 144,190,130 (GRCm39) W57* probably null Het
Abca2 G T 2: 25,337,417 (GRCm39) probably null Het
Abca3 A G 17: 24,593,373 (GRCm39) I257V probably benign Het
Adamts2 A G 11: 50,666,963 (GRCm39) D420G probably damaging Het
Adamts5 A G 16: 85,696,135 (GRCm39) F341L probably damaging Het
Ahnak T A 19: 8,991,062 (GRCm39) D4115E probably damaging Het
Arhgap20 T C 9: 51,751,751 (GRCm39) S365P possibly damaging Het
Atrn G A 2: 130,822,054 (GRCm39) V916I probably benign Het
Blmh T C 11: 76,856,651 (GRCm39) V82A probably damaging Het
C1ra A T 6: 124,490,664 (GRCm39) Y19F probably benign Het
Cactin A G 10: 81,159,067 (GRCm39) E306G probably damaging Het
Celsr1 C T 15: 85,787,566 (GRCm39) R2724Q probably benign Het
Clca4b T C 3: 144,631,110 (GRCm39) E250G probably benign Het
Col17a1 A T 19: 47,654,317 (GRCm39) S647T possibly damaging Het
Cope T A 8: 70,759,181 (GRCm39) D74E probably damaging Het
Dsg1c T C 18: 20,403,435 (GRCm39) I198T probably damaging Het
Elfn2 T C 15: 78,557,434 (GRCm39) N371S probably damaging Het
Elmo2 G T 2: 165,146,839 (GRCm39) A246D probably benign Het
Ewsr1 A T 11: 5,035,935 (GRCm39) M187K possibly damaging Het
Faap100 A T 11: 120,265,114 (GRCm39) S587R possibly damaging Het
Fam234b C T 6: 135,186,247 (GRCm39) S85L probably benign Het
Fanca A T 8: 124,033,169 (GRCm39) S292R probably benign Het
Fanci G A 7: 79,093,711 (GRCm39) C1021Y probably damaging Het
Fhod3 T C 18: 25,245,640 (GRCm39) I1230T probably benign Het
Fmo5 T C 3: 97,536,456 (GRCm39) L27S probably damaging Het
Fmo9 A G 1: 166,502,031 (GRCm39) V147A probably null Het
Fnbp4 A G 2: 90,583,301 (GRCm39) Y309C probably damaging Het
Foxb1 T C 9: 69,666,844 (GRCm39) T229A probably benign Het
Gapvd1 A G 2: 34,618,552 (GRCm39) Y274H probably damaging Het
Gbp8 T C 5: 105,165,541 (GRCm39) probably null Het
Gcn1 T A 5: 115,730,480 (GRCm39) L888Q probably damaging Het
Gm17490 T C 2: 11,630,460 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,237,785 (GRCm39) probably null Het
H2-Q1 A G 17: 35,540,373 (GRCm39) T153A possibly damaging Het
Ina A C 19: 47,011,938 (GRCm39) E452A probably benign Het
Kars1 A G 8: 112,721,494 (GRCm39) probably null Het
Kif1c A G 11: 70,595,291 (GRCm39) E124G probably damaging Het
Lpin3 T C 2: 160,745,944 (GRCm39) probably benign Het
Lrp1 A T 10: 127,390,878 (GRCm39) C3006* probably null Het
Lyst T C 13: 13,883,971 (GRCm39) L2953P probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Melk T C 4: 44,308,906 (GRCm39) Y88H probably damaging Het
Nos2 A G 11: 78,826,187 (GRCm39) I153M possibly damaging Het
Or4n4 T G 14: 50,519,370 (GRCm39) L113F probably benign Het
Otof A G 5: 30,529,225 (GRCm39) probably benign Het
Patl2 A G 2: 121,955,789 (GRCm39) V249A probably damaging Het
Pcgf5 A G 19: 36,389,580 (GRCm39) Y19C probably benign Het
Pcnt A T 10: 76,247,941 (GRCm39) V951E probably damaging Het
Pcolce2 T C 9: 95,520,710 (GRCm39) V29A probably benign Het
Pdgfrb A T 18: 61,210,775 (GRCm39) M761L probably benign Het
Pi16 A T 17: 29,538,189 (GRCm39) M1L possibly damaging Het
Pkd2 T A 5: 104,603,471 (GRCm39) probably benign Het
Plcb2 A G 2: 118,547,806 (GRCm39) W474R probably benign Het
Psapl1 A G 5: 36,361,624 (GRCm39) D72G possibly damaging Het
Ptpn5 T A 7: 46,728,681 (GRCm39) probably benign Het
Ptprg A G 14: 12,215,896 (GRCm38) E1115G probably damaging Het
Rassf1 C T 9: 107,435,165 (GRCm39) T224I probably damaging Het
Rbpms2 T A 9: 65,566,476 (GRCm39) C168* probably null Het
Rhag A G 17: 41,139,804 (GRCm39) probably benign Het
Rhebl1 C T 15: 98,779,034 (GRCm39) V17I probably benign Het
Rnf130 A T 11: 49,986,703 (GRCm39) D349V possibly damaging Het
Rprd1a A G 18: 24,642,952 (GRCm39) L60P probably damaging Het
Rspry1 T C 8: 95,356,420 (GRCm39) I25T probably damaging Het
Ruvbl2 C T 7: 45,071,621 (GRCm39) V421M probably damaging Het
Sap30 T C 8: 57,936,000 (GRCm39) N209D possibly damaging Het
Sfswap T C 5: 129,581,042 (GRCm39) probably benign Het
Slc1a2 G A 2: 102,586,352 (GRCm39) V319M probably damaging Het
Smad2 T C 18: 76,422,250 (GRCm39) probably benign Het
Spdya T C 17: 71,869,585 (GRCm39) probably null Het
Stk39 G A 2: 68,240,392 (GRCm39) T113M probably damaging Het
Tanc1 A G 2: 59,626,382 (GRCm39) probably benign Het
Tas2r122 T C 6: 132,688,774 (GRCm39) K40E probably damaging Het
Tph2 G T 10: 115,010,039 (GRCm39) probably benign Het
Trip12 G A 1: 84,729,269 (GRCm39) S1083F probably damaging Het
Tsc2 A T 17: 24,845,701 (GRCm39) C206S probably damaging Het
Tsc22d4 A G 5: 137,760,681 (GRCm39) Q34R possibly damaging Het
Uroc1 G T 6: 90,315,546 (GRCm39) M142I possibly damaging Het
Uso1 T C 5: 92,347,682 (GRCm39) S766P probably benign Het
Usp21 G A 1: 171,111,319 (GRCm39) probably benign Het
Usp48 T A 4: 137,360,437 (GRCm39) I658K possibly damaging Het
Vmn1r206 T C 13: 22,804,583 (GRCm39) H208R probably damaging Het
Vmn2r109 C T 17: 20,760,937 (GRCm39) A807T probably damaging Het
Zfp329 A T 7: 12,544,379 (GRCm39) C382S probably damaging Het
Zfp341 A G 2: 154,487,988 (GRCm39) E817G 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
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'- AGTGAAGACTGACAAGCACGCC -3'
(R):5'- ACTGTGGGAGAGGTTTCCTCCATC -3'

Sequencing Primer
(F):5'- TGTCCCAGCAGACATGCTC -3'
(R):5'- GAGAGGTTTCCTCCATCCCAAG -3'
Posted On 2013-06-11