Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00330:Myrf'

11038

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 #

IGL00330

Quality Score

Status

Chromosome

Chromosomal Location

10185636-10218112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10201877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (fasta)

Gene Model

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

AlphaFold

Q3UR85

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: V200A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: V200A

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 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

noncoding transcript
Transcript: ENSMUST00000189439

Predicted Effect

probably benign
Transcript: ENSMUST00000189897
AA Change: V200A

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: V200A

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
A130010J15Rik	T	G	1: 192,857,087 (GRCm39)	D146E	probably benign	Het
Alpi	A	T	1: 87,027,442 (GRCm39)	L308Q	probably damaging	Het
Bhmt2	A	T	13: 93,803,279 (GRCm39)		probably benign	Het
Bsn	T	C	9: 107,992,539 (GRCm39)	E1071G	probably damaging	Het
Car3	A	T	3: 14,933,439 (GRCm39)	N128Y	probably benign	Het
Cdkl2	C	T	5: 92,165,236 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cul9	T	C	17: 46,821,767 (GRCm39)		probably benign	Het
Gpr149	T	G	3: 62,438,094 (GRCm39)	I688L	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Kif19a	G	A	11: 114,670,411 (GRCm39)	G107D	probably damaging	Het
Loxhd1	A	C	18: 77,483,146 (GRCm39)	R1242S	probably damaging	Het
Ms4a6c	T	C	19: 11,455,676 (GRCm39)	Y162H	probably benign	Het
Msrb2	G	T	2: 19,376,510 (GRCm39)	R6L	unknown	Het
Myh2	A	G	11: 67,084,266 (GRCm39)	N1630D	probably benign	Het
Ncor2	A	G	5: 125,119,807 (GRCm39)		probably null	Het
Nrg1	T	A	8: 32,308,117 (GRCm39)	Q621L	probably damaging	Het
Or11h6	G	A	14: 50,880,625 (GRCm39)	A296T	probably benign	Het
Or5bw2	A	T	7: 6,573,667 (GRCm39)	I226F	possibly damaging	Het
Pfkp	A	G	13: 6,669,586 (GRCm39)	F211S	probably damaging	Het
Pramex1	T	C	X: 134,515,258 (GRCm39)	N273S	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Pwwp3b	A	G	X: 138,136,443 (GRCm39)	D327G	probably damaging	Het
Rnh1	G	A	7: 140,746,644 (GRCm39)	A49V	possibly damaging	Het
Serhl	C	T	15: 82,988,574 (GRCm39)	S167F	probably benign	Het
Skint1	T	C	4: 111,878,777 (GRCm39)		probably null	Het
Taar7b	A	C	10: 23,876,740 (GRCm39)	I302L	probably benign	Het
Tasor2	A	G	13: 3,624,832 (GRCm39)	F1706S	probably benign	Het
Zfp106	G	A	2: 120,369,978 (GRCm39)	P15S	probably benign	Het
Zfp385b	T	C	2: 77,307,122 (GRCm39)	Q167R	probably damaging	Het
Zfp800	T	A	6: 28,243,037 (GRCm39)	T643S	probably benign	Het

Other mutations in Myrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06