Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02584:Myrf'

299493

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: 0.841) question?

Stock #

IGL02584

Quality Score

Status

Chromosome

Chromosomal Location

10185636-10218112 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 10189587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (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

Domain	Start	End	E-Value	Type
Pfam:UPF0197	3	79	3.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088013

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098

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

noncoding transcript
Transcript: ENSMUST00000127878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153854

Predicted Effect

probably benign
Transcript: ENSMUST00000166412

SMART Domains

Protein: ENSMUSP00000128883
Gene: ENSMUSG00000036372

Domain	Start	End	E-Value	Type
Pfam:UPF0197	1	74	2.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186056

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098

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

probably benign
Transcript: ENSMUST00000186854

Predicted Effect

probably benign
Transcript: ENSMUST00000189897

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,744 (GRCm39)	Y22F	unknown	Het
Adgrb3	A	G	1: 25,544,065 (GRCm39)	L312P	probably damaging	Het
Anpep	T	C	7: 79,475,141 (GRCm39)		probably benign	Het
Arhgef6	T	G	X: 56,291,738 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,884,146 (GRCm39)	D989G	probably damaging	Het
Ccnj	T	A	19: 40,833,185 (GRCm39)	V121E	probably benign	Het
Cdyl	T	C	13: 35,867,769 (GRCm39)	L15P	probably benign	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Cryga	T	A	1: 65,142,175 (GRCm39)	S73C	probably benign	Het
Dennd4a	A	G	9: 64,758,580 (GRCm39)	T240A	probably damaging	Het
Eml6	A	G	11: 29,699,387 (GRCm39)	S1789P	probably damaging	Het
Esr2	A	T	12: 76,192,036 (GRCm39)	W331R	probably damaging	Het
Fbh1	A	T	2: 11,764,769 (GRCm39)	L455H	probably benign	Het
Gm21698	T	A	5: 26,192,391 (GRCm39)	E65V	probably damaging	Het
Grm8	G	T	6: 27,762,438 (GRCm39)	F262L	probably benign	Het
Haus3	A	T	5: 34,323,602 (GRCm39)	L336*	probably null	Het
Hfm1	A	C	5: 107,026,528 (GRCm39)		probably null	Het
Hgfac	T	C	5: 35,201,305 (GRCm39)		probably benign	Het
Ighv1-22	T	C	12: 114,709,942 (GRCm39)	E101G	probably benign	Het
Impg2	A	G	16: 56,085,374 (GRCm39)	E1027G	probably damaging	Het
Lypd5	A	T	7: 24,052,993 (GRCm39)	T217S	possibly damaging	Het
Mzf1	A	G	7: 12,786,744 (GRCm39)	W109R	probably damaging	Het
Ndufb4	A	T	16: 37,469,532 (GRCm39)		probably benign	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Oprk1	A	G	1: 5,668,827 (GRCm39)	K91R	probably damaging	Het
Or5m11b	C	T	2: 85,806,219 (GRCm39)	L211F	probably damaging	Het
Pdlim1	A	G	19: 40,231,844 (GRCm39)		probably null	Het
Ppp1r11	G	A	17: 37,260,781 (GRCm39)	R61C	probably damaging	Het
Racgap1	T	C	15: 99,521,515 (GRCm39)	D547G	probably benign	Het
Sema4b	A	G	7: 79,874,736 (GRCm39)	T709A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Supt5	T	C	7: 28,025,592 (GRCm39)	H218R	probably benign	Het
Tmem132c	T	A	5: 127,582,063 (GRCm39)	I426N	probably damaging	Het
Tpcn1	T	C	5: 120,677,097 (GRCm39)	N696S	probably damaging	Het
Ttn	T	C	2: 76,566,506 (GRCm39)	N26383S	possibly damaging	Het
Vax2	A	G	6: 83,688,495 (GRCm39)	T73A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably 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
IGL02154:Myrf	APN	19	10,193,482 (GRCm39)	missense	probably damaging	0.98
IGL02370:Myrf	APN	19	10,191,504 (GRCm39)	missense	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