Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:Myrf'

282170

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

10185636-10218112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10193482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 558 (I558N)

Ref Sequence

ENSEMBL: ENSMUSP00000140871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088013] [ENSMUST00000186056] [ENSMUST00000189897]

AlphaFold

Q3UR85

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088013
AA Change: I760N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: I760N

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000186056
AA Change: I558N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: I558N

Domain	Start	End	E-Value	Type
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: I125N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189897
AA Change: I760N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: I760N

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armh4	G	A	14: 50,010,399 (GRCm39)	T436I	possibly damaging	Het
AW551984	G	A	9: 39,500,398 (GRCm39)	R787C	possibly damaging	Het
Cadm1	A	T	9: 47,725,201 (GRCm39)	I321L	probably benign	Het
Cfap57	A	G	4: 118,470,214 (GRCm39)	L222P	probably damaging	Het
Cox20	A	G	1: 178,150,119 (GRCm39)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,580,150 (GRCm39)	N370S	probably benign	Het
Dnah17	A	G	11: 118,015,087 (GRCm39)	F386L	probably benign	Het
Fam135b	T	C	15: 71,320,559 (GRCm39)	I1323V	probably benign	Het
Fndc3b	A	G	3: 27,592,266 (GRCm39)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,675,531 (GRCm39)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 34,245,989 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,130 (GRCm39)		probably benign	Het
Irag2	T	G	6: 145,083,967 (GRCm39)	M44R	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Mdn1	A	G	4: 32,740,395 (GRCm39)	D3750G	probably benign	Het
Mme	A	T	3: 63,250,976 (GRCm39)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Or52e8	C	T	7: 104,625,188 (GRCm39)	M1I	probably null	Het
Phb1	A	G	11: 95,565,997 (GRCm39)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,330,613 (GRCm39)		probably benign	Het
Sirpb1a	T	C	3: 15,475,504 (GRCm39)	T344A	probably damaging	Het
Skap2	T	C	6: 51,989,308 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,897,089 (GRCm39)	I399T	probably damaging	Het
Sorl1	C	T	9: 41,915,330 (GRCm39)	V1300I	probably benign	Het
Tas2r117	T	C	6: 132,780,678 (GRCm39)	V272A	probably benign	Het
Tctn2	C	A	5: 124,746,624 (GRCm39)		noncoding transcript	Het
Tmem51	T	C	4: 141,759,089 (GRCm39)	N220D	probably damaging	Het
Trak2	T	C	1: 58,947,888 (GRCm39)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 11,886,472 (GRCm39)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,672,248 (GRCm39)	I662L	probably benign	Het
Vwa8	C	A	14: 79,086,733 (GRCm39)	R4S	possibly damaging	Het

Other mutations in Myrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16