Mutagenetix > Incidental Mutations

Incidental Mutation 'R1574:Myrf'

202774

Institutional Source

Beutler Lab

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R1574 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10225487 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 141 (D141G)

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088013
AA Change: D141G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: D141G

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 damaging
Transcript: ENSMUST00000189897
AA Change: D141G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: D141G

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

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,787,449	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,884,060	E6G	probably damaging	Het
Ankrd12	A	T	17: 65,986,274	D721E	probably benign	Het
Anpep	A	G	7: 79,838,407		probably null	Het
Apeh	A	T	9: 108,092,726		probably null	Het
Apob	A	T	12: 7,990,839	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,996,948	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,351,822	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,191,137		probably benign	Het
Cdon	A	G	9: 35,452,937		probably benign	Het
Cenpf	C	T	1: 189,652,713	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,215,433		probably null	Het
Ces2b	G	T	8: 104,835,889	A284S	probably benign	Het
Clock	T	C	5: 76,242,832	D311G	probably damaging	Het
Csmd3	T	C	15: 47,695,861		probably null	Het
Dbil5	A	G	11: 76,218,482	M71V	probably benign	Het
Ddhd1	A	C	14: 45,595,547	L864R	probably damaging	Het
Ddx19a	T	C	8: 110,993,111		probably benign	Het
Dnah11	A	G	12: 118,060,317	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,514,688	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,423	M754K	probably benign	Het
Dnajc15	A	T	14: 77,826,414	S145T	probably benign	Het
Drap1	A	G	19: 5,424,257	F25S	probably damaging	Het
Fam83e	G	A	7: 45,726,711	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,953,368		probably benign	Het
Fndc3a	A	T	14: 72,556,557	I892N	probably damaging	Het
Gcn1l1	A	G	5: 115,615,552	T2321A	probably benign	Het
Gm1110	G	T	9: 26,881,126		probably benign	Het
Gm5499	T	C	17: 87,078,995		noncoding transcript	Het
Gmnc	G	T	16: 26,963,979		probably benign	Het
Greb1l	A	G	18: 10,554,997	D1681G	possibly damaging	Het
Hc	G	A	2: 35,000,765		probably benign	Het
Hmcn2	A	C	2: 31,404,887	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,600,235	K39N	probably damaging	Het
Kank2	A	G	9: 21,774,575	S668P	probably damaging	Het
Kcng1	T	A	2: 168,269,041	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,786,633		probably null	Het
Lama2	T	A	10: 27,324,754	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,402,908	I132N	probably damaging	Het
Lrmp	T	G	6: 145,158,630		probably benign	Het
Mad2l2	G	T	4: 148,142,972		probably benign	Het
Mcph1	T	C	8: 18,801,412	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315	I2366V	probably benign	Het
Moxd1	T	C	10: 24,300,319	W558R	probably damaging	Het
Myh13	T	C	11: 67,362,581		probably benign	Het
Ncoa7	T	C	10: 30,694,101	I249M	probably damaging	Het
Obox5	T	C	7: 15,758,633	V171A	probably damaging	Het
Olfr1352	C	A	10: 78,983,986	N32K	probably damaging	Het
Olfr15	T	C	16: 3,839,657	I228T	probably damaging	Het
Olfr70	A	T	4: 43,697,134	V13D	possibly damaging	Het
Olfr818	A	G	10: 129,945,510	L69P	probably damaging	Het
Olfr988	A	T	2: 85,353,899	V9E	probably damaging	Het
Parp4	A	G	14: 56,602,295	T487A	probably damaging	Het
Pclo	A	G	5: 14,679,831		probably benign	Het
Pcnx2	G	A	8: 125,773,930	R1474C	probably damaging	Het
Prrxl1	A	G	14: 32,605,324		probably benign	Het
Qtrt2	A	G	16: 43,871,832		probably benign	Het
Sart1	G	A	19: 5,380,259	P788L	probably damaging	Het
Sdk1	A	G	5: 141,998,879	T740A	probably benign	Het
Serpinb1c	T	C	13: 32,888,996	D61G	possibly damaging	Het
Slc24a5	G	A	2: 125,080,862	G152S	probably damaging	Het
Slc6a4	A	T	11: 77,019,196	I426F	possibly damaging	Het
Stk33	C	T	7: 109,279,820	V441I	probably benign	Het
Sult1c2	A	G	17: 53,836,899		probably null	Het
Tdpoz4	T	A	3: 93,796,528	V44E	probably benign	Het
Tmprss13	C	A	9: 45,343,231	T432K	probably damaging	Het
Traf7	A	G	17: 24,510,553	L428P	probably damaging	Het
Tubb1	T	C	2: 174,457,422	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,790,347	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,845,077	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,387,089	H325L	probably damaging	Het
Zfp516	T	A	18: 82,993,175	L1111H	possibly damaging	Het
Zfp61	C	G	7: 24,291,210	K505N	probably damaging	Het
Zfp653	C	A	9: 22,057,978	E331*	probably null	Het
Zfp949	A	T	9: 88,569,777	K467*	probably null	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
IGL02370:Myrf	APN	19	10214140	missense	probably benign
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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGCGATAATCTGATCCG -3'
(R):5'- AACCTTGGATCCTGTCAGAATTC -3'

Sequencing Primer
(F):5'- ATAATCTGATCCGTTGGGCAGCC -3'
(R):5'- CCTGTCAGAATTCTAGAATAGGTGG -3'

Posted On

2014-06-23