Mutagenetix > Incidental Mutations

Incidental Mutation 'R5117:Myrf'

392716

Institutional Source

Beutler Lab

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

MMRRC Submission

042705-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R5117 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10212493 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 984 (E984V)

Ref Sequence

ENSEMBL: ENSMUSP00000139601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040372] [ENSMUST00000088013] [ENSMUST00000166412] [ENSMUST00000186056] [ENSMUST00000189897]

Predicted Effect

probably benign
Transcript: ENSMUST00000040372

SMART Domains

Protein: ENSMUSP00000044751
Gene: ENSMUSG00000036372

Domain	Start	End	E-Value	Type
Pfam:UPF0197	3	79	3.3e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000088013
AA Change: E1010V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: E1010V

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

noncoding transcript
Transcript: ENSMUST00000127878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153854

Predicted Effect

probably benign
Transcript: ENSMUST00000166412

SMART Domains

Protein: ENSMUSP00000128883
Gene: ENSMUSG00000036372

Domain	Start	End	E-Value	Type
Pfam:UPF0197	1	74	2.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186056
AA Change: E809V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: E809V

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: E348V

Predicted Effect

probably damaging
Transcript: ENSMUST00000189897
AA Change: E984V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: E984V

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

Meta Mutation Damage Score

0.3853

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (67/67)

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
2010315B03Rik	G	A	9: 124,293,085	T403I	probably benign	Het
4921509C19Rik	T	C	2: 151,472,540	E406G	probably benign	Het
Abca8b	T	C	11: 109,966,803	E641G	probably damaging	Het
Agrn	T	C	4: 156,185,553	N49S	probably benign	Het
BC005561	A	G	5: 104,520,255	Y881C	probably damaging	Het
Cacna1b	A	G	2: 24,732,328	S215P	probably damaging	Het
Cacna1g	T	A	11: 94,432,503	I1292F	probably damaging	Het
Card14	T	A	11: 119,338,250	I662N	probably damaging	Het
Cep135	A	G	5: 76,631,429	K762R	probably benign	Het
Ces1b	A	G	8: 93,073,209		probably null	Het
Erich6	T	G	3: 58,623,205	I448L	probably benign	Het
Fads3	T	G	19: 10,041,958		probably null	Het
Fam234a	A	G	17: 26,213,538	F546L	probably benign	Het
Gm10717	T	C	9: 3,025,625	L70S	probably benign	Het
Gm11787	G	T	4: 3,509,524		noncoding transcript	Het
Gm5519	A	G	19: 33,825,071	*171W	probably null	Het
Grasp	A	G	15: 101,230,537	D152G	probably damaging	Het
Grid2	T	C	6: 63,256,933	I26T	probably benign	Het
Hmcn2	T	G	2: 31,458,049	C4902W	possibly damaging	Het
Hsp90aa1	T	C	12: 110,695,264	N106S	possibly damaging	Het
Il18	A	T	9: 50,581,509	N125I	possibly damaging	Het
Ints9	G	T	14: 64,993,091	E156*	probably null	Het
Kalrn	T	C	16: 34,033,601		probably null	Het
Klkb1	A	T	8: 45,289,112	D43E	possibly damaging	Het
Lipo3	A	T	19: 33,559,552	M256K	probably benign	Het
Lrrc29	T	A	8: 105,312,860	R595*	probably null	Het
Mapk6	C	A	9: 75,397,735	M133I	possibly damaging	Het
Med21	T	A	6: 146,647,283		probably benign	Het
Naga	A	C	15: 82,337,456	M28R	probably damaging	Het
Nphp4	T	G	4: 152,524,232		probably null	Het
Nr1h4	T	C	10: 89,478,422	N295D	probably damaging	Het
Olfr1408	T	C	1: 173,130,917	Q100R	possibly damaging	Het
Olfr543	T	C	7: 102,477,502	M123V	probably damaging	Het
Olfr702	A	T	7: 106,823,662	I288N	probably damaging	Het
Parp9	C	A	16: 35,971,832		probably null	Het
Pax4	T	C	6: 28,446,279	I72V	probably benign	Het
Pcdh7	A	G	5: 57,721,748	I542V	probably benign	Het
Pcdhgb7	C	T	18: 37,752,886	R370W	probably damaging	Het
Pik3r1	G	A	13: 101,692,236	T18I	probably benign	Het
Ppara	A	G	15: 85,777,761	I68V	probably benign	Het
Ptch2	T	A	4: 117,105,949	I211N	probably damaging	Het
Senp6	G	A	9: 80,130,746	V715M	probably damaging	Het
Serf2	C	T	2: 121,450,703	P41L	possibly damaging	Het
Serpina12	T	C	12: 104,037,750	I208V	possibly damaging	Het
Serpinf2	T	C	11: 75,432,500	D460G	probably benign	Het
Sh3d21	T	C	4: 126,151,872	E338G	probably damaging	Het
Slc7a11	T	C	3: 50,379,150	D384G	probably damaging	Het
Snx15	A	G	19: 6,124,151		probably null	Het
Supt16	A	G	14: 52,183,092	F84L	probably damaging	Het
Tm9sf2	C	A	14: 122,143,501	Q169K	probably benign	Het
Trim56	A	T	5: 137,113,978	V228E	probably benign	Het
Triqk	T	A	4: 12,980,390		probably null	Het
Ttc21a	T	A	9: 119,966,565	I1155N	possibly damaging	Het
Ube3b	T	G	5: 114,419,631	Y1059D	probably damaging	Het
Vmn2r14	T	C	5: 109,216,095	T652A	probably benign	Het
Wdr4	A	G	17: 31,499,824	V304A	probably benign	Het
Wwp2	T	C	8: 107,554,062	S646P	possibly damaging	Het
Zfand5	T	A	19: 21,279,645	S130T	probably benign	Het
Zfp599	A	T	9: 22,250,100	Y256*	probably null	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het
Zfyve16	T	A	13: 92,505,689	I1209L	possibly damaging	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
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'- TCATGCTATACTGAAGCCTGAGG -3'
(R):5'- AACTAGCTGGTCCTAGAGCTG -3'

Sequencing Primer
(F):5'- TGCTATACTGAAGCCTGAGGAAATG -3'
(R):5'- TAGAGCTGCCCGGAGAG -3'

Posted On

2016-06-15