Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Myrf'

290882

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: 0.862) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10214140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 945 (N945D)

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: N971D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: N971D

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
AA Change: N770D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: N770D

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: N309D

Predicted Effect

probably benign
Transcript: ENSMUST00000189897
AA Change: N945D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: N945D

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,263,074	V482A	probably benign	Het
4732471J01Rik	T	C	7: 25,384,888		probably benign	Het
Abra	T	C	15: 41,869,244	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,356,532	N199D	probably damaging	Het
Baz2b	A	T	2: 59,923,589	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,085,347	I312V	probably damaging	Het
Chrd	A	G	16: 20,735,791	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,354,576	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,471,950		probably null	Het
Cntnap3	A	T	13: 64,751,751	M976K	probably benign	Het
Cyp27b1	T	C	10: 127,050,674		probably benign	Het
Ddx54	T	A	5: 120,619,787	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,635,397	V407A	probably benign	Het
Elp4	A	G	2: 105,794,592	S201P	probably damaging	Het
Exoc3	A	T	13: 74,192,761	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671	I117T	probably damaging	Het
Gbx2	A	T	1: 89,929,149		probably benign	Het
Gm4858	A	G	3: 93,074,047	D124G	possibly damaging	Het
Hnf1b	A	C	11: 83,882,733	T253P	possibly damaging	Het
Itih5	A	T	2: 10,186,975	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,710,935	N677S	probably benign	Het
Knstrn	T	A	2: 118,823,788		probably null	Het
Lin9	G	T	1: 180,688,018	C451F	probably damaging	Het
Mast1	A	C	8: 84,912,254	V1482G	probably benign	Het
Mroh4	A	G	15: 74,625,541	F144L	probably benign	Het
Nfrkb	G	A	9: 31,389,012	G33D	probably benign	Het
Olfr1036	C	A	2: 86,074,788	T16K	probably damaging	Het
P2ry13	T	C	3: 59,209,465	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,514,592		probably null	Het
Pitpnm3	A	G	11: 72,051,858	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,137,348	R266W	probably damaging	Het
Rcn3	T	C	7: 45,083,333	S304G	probably benign	Het
Rinl	A	G	7: 28,794,972		probably null	Het
Sema5a	T	C	15: 32,682,299		probably benign	Het
Sipa1l2	A	G	8: 125,480,269	L565P	probably damaging	Het
Slc5a9	A	G	4: 111,877,629	I656T	probably benign	Het
Sptan1	A	G	2: 30,030,740	K2404R	probably damaging	Het
Tarsl2	C	A	7: 65,661,165	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,495,218	V627I	possibly damaging	Het
Tfcp2	A	T	15: 100,512,304	V394D	probably damaging	Het
Trerf1	C	T	17: 47,314,461		noncoding transcript	Het
Ucp2	A	G	7: 100,498,384	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,064,191	Q498R	probably benign	Het
Yeats2	T	A	16: 20,150,471	I4N	probably damaging	Het
Zfp574	T	G	7: 25,079,589	I12S	possibly damaging	Het
Zscan29	T	A	2: 121,163,833	E522V	probably benign	Het

Other mutations in Myrf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Myrf	APN	19	10224513	missense	probably benign	0.30
IGL01132:Myrf	APN	19	10223205	missense	probably damaging	1.00
IGL01958:Myrf	APN	19	10210378	unclassified	probably benign
IGL02154:Myrf	APN	19	10216118	missense	probably damaging	0.98
IGL02584:Myrf	APN	19	10212223	splice site	probably benign
IGL02817:Myrf	APN	19	10225452	missense	probably benign	0.45
R0312:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0367:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0389:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0416:Myrf	UTSW	19	10215812	critical splice acceptor site	probably null
R0446:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0464:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0465:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0487:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0533:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0534:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R0570:Myrf	UTSW	19	10211797	missense	probably damaging	1.00
R0622:Myrf	UTSW	19	10223452	missense	probably damaging	0.99
R0631:Myrf	UTSW	19	10228882	missense	probably benign	0.00
R0721:Myrf	UTSW	19	10216080	missense	probably damaging	1.00
R0848:Myrf	UTSW	19	10218162	missense	probably benign	0.00
R1056:Myrf	UTSW	19	10223486	missense	probably benign	0.11
R1574:Myrf	UTSW	19	10225487	missense	probably damaging	1.00
R1574:Myrf	UTSW	19	10225487	missense	probably damaging	1.00
R1801:Myrf	UTSW	19	10214191	missense	probably benign	0.03
R1897:Myrf	UTSW	19	10218232	missense	probably benign	0.05
R1950:Myrf	UTSW	19	10218190	missense	possibly damaging	0.93
R1957:Myrf	UTSW	19	10219796	missense	probably benign	0.04
R2089:Myrf	UTSW	19	10224600	missense	possibly damaging	0.48
R2091:Myrf	UTSW	19	10224600	missense	possibly damaging	0.48
R2091:Myrf	UTSW	19	10224600	missense	possibly damaging	0.48
R2139:Myrf	UTSW	19	10216467	missense	probably damaging	0.98
R2144:Myrf	UTSW	19	10228674	missense	probably benign	0.05
R3932:Myrf	UTSW	19	10218151	missense	probably damaging	1.00
R3964:Myrf	UTSW	19	10219615	missense	probably benign	0.03
R3966:Myrf	UTSW	19	10219615	missense	probably benign	0.03
R3970:Myrf	UTSW	19	10223237	missense	probably damaging	1.00
R4607:Myrf	UTSW	19	10229067	missense	probably damaging	1.00
R4746:Myrf	UTSW	19	10218591	missense	probably damaging	0.99
R5117:Myrf	UTSW	19	10212493	missense	probably damaging	1.00
R5598:Myrf	UTSW	19	10215290	missense	probably benign	0.00
R5719:Myrf	UTSW	19	10216723	missense	probably damaging	1.00
R5841:Myrf	UTSW	19	10223547	missense	probably null	1.00
R5994:Myrf	UTSW	19	10219117	missense	probably null	1.00
R6148:Myrf	UTSW	19	10212475	missense	probably damaging	0.99
R6229:Myrf	UTSW	19	10219798	missense	probably benign	0.19
R6477:Myrf	UTSW	19	10228785	missense	probably benign	0.41
R6623:Myrf	UTSW	19	10223359	missense	probably benign	0.13
R6878:Myrf	UTSW	19	10216478	missense	possibly damaging	0.80
R6932:Myrf	UTSW	19	10219560	missense	probably damaging	1.00
R7127:Myrf	UTSW	19	10215341	missense	probably benign	0.01
R7162:Myrf	UTSW	19	10218646	missense	possibly damaging	0.75
R7553:Myrf	UTSW	19	10228876	missense	probably benign
R7585:Myrf	UTSW	19	10216727	missense	probably damaging	1.00
R7838:Myrf	UTSW	19	10219619	missense	possibly damaging	0.55
R8340:Myrf	UTSW	19	10215341	missense	probably benign	0.01
R8712:Myrf	UTSW	19	10215070	missense	probably benign	0.38
R8876:Myrf	UTSW	19	10229014	splice site	probably benign
R8932:Myrf	UTSW	19	10223567	missense	probably benign	0.03
R9111:Myrf	UTSW	19	10214057	critical splice donor site	probably null
R9496:Myrf	UTSW	19	10216476	missense	probably benign	0.19
R9648:Myrf	UTSW	19	10210646	missense	possibly damaging	0.75
X0028:Myrf	UTSW	19	10212158	missense	probably damaging	1.00
Z1088:Myrf	UTSW	19	10221298	missense	probably damaging	1.00
Z1177:Myrf	UTSW	19	10219544	missense	probably damaging	1.00

Posted On

2015-04-16