Mutagenetix > Incidental Mutations

Incidental Mutation 'R5841:Myrf'

450474

Institutional Source

Beutler Lab

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

MMRRC Submission

044061-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R5841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10223547 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 52 (K52R)

Ref Sequence

ENSEMBL: ENSMUSP00000140871 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000088013
AA Change: K254R

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

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: K254R

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 null
Transcript: ENSMUST00000186056
AA Change: K52R

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

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: K52R

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 null
Transcript: ENSMUST00000189897
AA Change: K254R

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

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: K254R

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

0.1289

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	T	1: 75,174,350	F565L	possibly damaging	Het
Abhd6	T	A	14: 8,049,596	V188D	probably benign	Het
Bbs12	T	G	3: 37,319,521	N39K	probably benign	Het
Bend5	A	G	4: 111,433,470	Y221C	probably damaging	Het
Brd8	A	G	18: 34,605,523	S683P	probably damaging	Het
Caskin1	A	G	17: 24,496,209	D79G	probably damaging	Het
Cdyl	T	C	13: 35,872,561	L509P	probably damaging	Het
Cenpf	G	T	1: 189,657,444	T1397N	possibly damaging	Het
Ckap5	T	A	2: 91,600,682	M1479K	probably benign	Het
Cpsf2	T	C	12: 101,985,238	S145P	probably damaging	Het
Cyp4a12a	A	T	4: 115,326,702	H235L	probably benign	Het
Cyp7b1	A	T	3: 18,097,506	F181Y	probably damaging	Het
Dennd5b	T	C	6: 149,044,755	T453A	probably benign	Het
Dlgap3	A	G	4: 127,195,400	D263G	probably damaging	Het
Dnah3	TTCCTC	TTC	7: 119,951,021		probably benign	Het
Dync2li1	G	A	17: 84,633,562	G69R	probably damaging	Het
Edc3	T	C	9: 57,744,602	V331A	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ganc	C	T	2: 120,411,539	T66I	possibly damaging	Het
Gm11595	C	A	11: 99,772,317	C179F	unknown	Het
Gm13088	A	G	4: 143,655,539	S196P	possibly damaging	Het
Gm15448	T	A	7: 3,822,899	R324*	probably null	Het
Gnptg	A	G	17: 25,235,417	S159P	probably damaging	Het
Gsdmc2	C	T	15: 63,826,210	V349I	probably benign	Het
Hydin	T	C	8: 110,533,214	I2606T	possibly damaging	Het
Ino80d	A	G	1: 63,058,840	S632P	probably damaging	Het
Kcnn2	G	A	18: 45,559,396	R13H	probably benign	Het
Klb	A	T	5: 65,379,324	K666*	probably null	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Kpna7	T	C	5: 144,993,956	I360V	possibly damaging	Het
Lmbrd2	A	G	15: 9,182,570	K576E	possibly damaging	Het
Lrp2	T	A	2: 69,480,153	Y2692F	probably benign	Het
Meis2	T	A	2: 116,058,664	E202D	probably benign	Het
Mgat4c	A	T	10: 102,388,965	T347S	probably damaging	Het
Mmp12	G	A	9: 7,347,501	C26Y	possibly damaging	Het
Mrpl24	G	A	3: 87,922,985	R145Q	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Mycbpap	T	A	11: 94,505,610	R135W	probably damaging	Het
Myo1g	T	A	11: 6,507,000	Y942F	probably benign	Het
Ncf2	A	T	1: 152,821,518		silent	Het
Olfr585	T	C	7: 103,097,954	F71S	probably damaging	Het
Otx1	T	C	11: 21,998,594		probably benign	Het
Pcnx	T	A	12: 81,918,655	V532D	possibly damaging	Het
Pik3r5	T	C	11: 68,492,270	L305P	probably damaging	Het
Polr3a	A	T	14: 24,450,698	C1341S	probably benign	Het
Ppp1r3a	T	C	6: 14,718,984	T644A	probably benign	Het
Ptbp1	A	G	10: 79,859,932	D289G	probably benign	Het
Pwp2	A	G	10: 78,172,118	F868L	probably benign	Het
Rgs8	A	G	1: 153,692,828	E153G	probably damaging	Het
Rhbdf2	G	A	11: 116,602,354		probably benign	Het
Sbf1	T	C	15: 89,308,068	H78R	probably damaging	Het
Sdr16c6	C	T	4: 4,062,728	A197T	possibly damaging	Het
Slc36a3	A	T	11: 55,125,721	Y349*	probably null	Het
Slc38a9	T	C	13: 112,695,322	L202P	possibly damaging	Het
Slc40a1	A	T	1: 45,912,349	M216K	probably damaging	Het
Slc9a3r2	A	T	17: 24,644,877	M8K	probably benign	Het
Srebf1	T	A	11: 60,203,584	Q568H	possibly damaging	Het
Srp54b	A	G	12: 55,252,829	N315S	probably benign	Het
Strc	A	G	2: 121,365,877	F1557L	probably benign	Het
Susd3	C	A	13: 49,238,726		probably benign	Het
Usp54	G	A	14: 20,550,283	T1462I	probably benign	Het
Vmn1r11	T	A	6: 57,137,802	N150K	probably damaging	Het
Vwa8	C	T	14: 78,994,518	H606Y	probably benign	Het
Zmym6	A	G	4: 127,100,670	I206V	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
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
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
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'- AAAGGTCAGTCAGTCACCTACC -3'
(R):5'- TACCTGAGGGCTTCCTGTAG -3'

Sequencing Primer
(F):5'- TCAGTCAGTCACCTACCTGGGG -3'
(R):5'- TGGGCACTGCCTTCTAAA -3'

Posted On

2016-12-20