Mutagenetix > Incidental Mutations

Incidental Mutation 'R6878:Myrf'

536541

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: 0.829) question?

Stock #

R6878 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10216478 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 730 (Q730R)

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: Q730R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: Q730R

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

possibly damaging
Transcript: ENSMUST00000186056
AA Change: Q528R

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: Q528R

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

possibly damaging
Transcript: ENSMUST00000189897
AA Change: Q730R

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: Q730R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

98% (44/45)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,433,494	N4810K	probably benign	Het
Arhgap26	A	T	18: 39,227,412	I397F	probably damaging	Het
Arhgap35	A	G	7: 16,565,113	V9A	probably benign	Het
Asl	A	G	5: 130,024,292		probably null	Het
Atg2a	T	A	19: 6,250,178	L672Q	probably damaging	Het
B4galt1	T	C	4: 40,809,694	D316G	probably damaging	Het
Bpifb2	A	G	2: 153,875,912		probably benign	Het
Ccl1	T	C	11: 82,179,693	I18V	probably benign	Het
Cd47	A	G	16: 49,910,869	E278G	possibly damaging	Het
Cilp	G	A	9: 65,279,847	G1075S	probably damaging	Het
Eml2	T	C	7: 19,200,612	V604A	probably benign	Het
Fancm	A	T	12: 65,116,423	R1454*	probably null	Het
Gm14124	C	T	2: 150,266,486	L56F	possibly damaging	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,341,499		probably benign	Het
Gm4302	CAG	CAGAAG	10: 100,341,507		probably benign	Het
Gm4302	GCA	GCACCA	10: 100,341,515		probably benign	Het
Hif1a	T	C	12: 73,928,281	M147T	possibly damaging	Het
Hps5	C	G	7: 46,783,634	A221P	probably damaging	Het
Lrrc49	A	G	9: 60,680,148	S67P	probably damaging	Het
Madd	T	A	2: 91,169,857	N568I	probably damaging	Het
Meikin	T	C	11: 54,411,886	S375P	possibly damaging	Het
Mfsd6	G	T	1: 52,708,753	Q318K	probably damaging	Het
Mis18a	A	T	16: 90,721,756	I106N	probably damaging	Het
Myl2	T	C	5: 122,105,077	I148T	probably benign	Het
Nf1	T	C	11: 79,434,882	L560P	probably damaging	Het
Npat	A	G	9: 53,556,599	T285A	probably benign	Het
Ntrk3	T	A	7: 78,304,372	D547V	probably benign	Het
Obox2	G	T	7: 15,397,320	S117I	probably benign	Het
Olfr1079	A	G	2: 86,538,765	L48P	probably damaging	Het
Parva	T	A	7: 112,576,449	N226K	possibly damaging	Het
Pcdha3	T	A	18: 36,947,363	L386*	probably null	Het
Ppip5k1	A	G	2: 121,311,936	F1323S	probably benign	Het
Prkdc	T	C	16: 15,777,072	V2771A	probably benign	Het
Prl7c1	T	C	13: 27,778,844	T59A	possibly damaging	Het
Rab15	T	C	12: 76,804,483	T20A	probably benign	Het
Rp1l1	A	G	14: 64,031,852	E1629G	probably benign	Het
Rpap1	A	T	2: 119,778,176	L235Q	probably damaging	Het
Sema3a	A	T	5: 13,455,544	I91F	possibly damaging	Het
Snx6	T	C	12: 54,763,601		probably null	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Speer4f2	T	G	5: 17,375,767	M114R	probably damaging	Het
Syne1	T	C	10: 5,420,388	D264G	possibly damaging	Het
Tbl1xr1	T	G	3: 22,203,204	N410K	possibly damaging	Het
Tmed7	A	T	18: 46,593,465	D74E	probably damaging	Het
Upk3b	T	C	5: 136,039,147	V64A	probably benign	Het
Vmn2r29	A	G	7: 7,241,864	V337A	probably benign	Het
Yy1	C	G	12: 108,814,756	P352A	probably damaging	Het
Zfp873	T	C	10: 82,060,695	I457T	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
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
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
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'- GGTGGACTTAGGATGCCTACTTC -3'
(R):5'- AAGTCAACTGGCAGCTCAGG -3'

Sequencing Primer
(F):5'- ATCCCCATGGTCTGAAGGAG -3'
(R):5'- AGCTCAGGGGCTTTCAGG -3'

Posted On

2018-10-18