Mutagenetix > Incidental Mutations

Incidental Mutation 'R6477:Myrf'

543435

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: 0.790) question?

Stock #

R6477 (G1)

Quality Score

42.0073

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10228785 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 89 (P89L)

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: P89L

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

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: P89L

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: ENSMUST00000189897
AA Change: P89L

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: P89L

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: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,257,630		probably null	Het
4933415F23Rik	A	T	1: 23,101,780	L151Q	probably benign	Het
Aatk	T	C	11: 120,018,870	D23G	probably benign	Het
Abca14	T	C	7: 120,325,102	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,502,212	V481M	probably benign	Het
Ankfy1	G	A	11: 72,730,482	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,794,022	R20*	probably null	Het
Cops7a	A	T	6: 124,960,176	V184E	probably damaging	Het
Cpa3	T	C	3: 20,239,575	E83G	possibly damaging	Het
Crls1	C	T	2: 132,861,233	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,481,817	S153R	probably damaging	Het
Ddx54	T	A	5: 120,621,778	I410N	probably damaging	Het
Dido1	T	A	2: 180,660,481	T1877S	probably benign	Het
Dip2c	A	G	13: 9,623,760	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,677,886	V681I	probably benign	Het
Dst	A	G	1: 34,208,728		probably null	Het
Eya2	A	G	2: 165,763,761	T362A	probably benign	Het
Hgs	G	A	11: 120,469,655	V60M	probably damaging	Het
Inpp4b	A	G	8: 81,844,714		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kdr	C	A	5: 75,968,841	A129S	probably benign	Het
Lhcgr	A	T	17: 88,742,373	M575K	probably damaging	Het
Lsamp	G	T	16: 42,168,165		probably benign	Het
Mcm5	T	C	8: 75,112,602	V161A	probably benign	Het
Mmp14	A	T	14: 54,437,658	H249L	probably damaging	Het
Mroh5	A	G	15: 73,790,755	S405P	probably damaging	Het
Mroh9	C	A	1: 163,076,304	L46F	probably damaging	Het
Mtrr	A	T	13: 68,570,073	H357Q	probably damaging	Het
Mzb1	C	T	18: 35,648,258		probably null	Het
Naip6	A	G	13: 100,316,008	S182P	probably damaging	Het
Nmur2	A	T	11: 56,029,591	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,011,145	S35Y	probably benign	Het
Olfr1154	A	G	2: 87,902,990	S229P	probably damaging	Het
Olfr572	T	A	7: 102,928,378	V250E	probably damaging	Het
Olfr657	T	C	7: 104,635,679	S2P	probably benign	Het
Osbpl1a	T	C	18: 12,756,261	I541V	probably benign	Het
Parp4	A	G	14: 56,647,237	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,980,659	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,536,627	T930A	probably benign	Het
Pomt1	G	A	2: 32,248,716		probably null	Het
Pramel6	A	G	2: 87,510,602	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,044,261	T83A	probably damaging	Het
Rbm27	T	A	18: 42,333,318	V915E	probably damaging	Het
Rnf114	T	A	2: 167,503,488	D10E	probably benign	Het
Sbk1	A	G	7: 126,291,178	E121G	probably damaging	Het
Senp6	A	T	9: 80,093,625	R39*	probably null	Het
Sergef	A	T	7: 46,633,826	I94N	probably benign	Het
Slc30a9	C	T	5: 67,328,524	R183W	probably benign	Het
Smurf1	C	T	5: 144,889,792	R414H	possibly damaging	Het
Sptb	A	T	12: 76,606,392	W1566R	probably damaging	Het
Tenm2	T	C	11: 36,010,507		probably null	Het
Tnni1	T	C	1: 135,805,566	V42A	probably benign	Het
Tnxb	A	G	17: 34,719,539	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,434,574	F46L	probably benign	Het
Ubqln5	G	A	7: 104,128,258	S453F	probably damaging	Het
Ubr3	A	T	2: 69,979,429	R1248*	probably null	Het
Utp20	A	G	10: 88,768,918	V1705A	probably benign	Het
Zfp60	G	A	7: 27,749,803	R632H	probably benign	Het
Zfp638	A	G	6: 83,965,578	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,480,910	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,704,167	K1355T	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
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
R7921:Myrf	UTSW	19	10219619	missense	possibly damaging	0.55
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'- AACACTGTGCCCCTAAATCCTG -3'
(R):5'- ACCTCATCCGAGATCTCTGG -3'

Sequencing Primer
(F):5'- GTGCCCCTAAATCCTGTCCCC -3'
(R):5'- ATCCGAGATCTCTGGGCAGTTC -3'

Posted On

2018-12-12