Mutagenetix > Incidental Mutations

Incidental Mutation 'R7838:Myrf'

606137

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: 0.840) question?

Stock #

R7838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10219619 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 266 (P266S)

Ref Sequence

ENSEMBL: ENSMUSP00000140871 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: P468S

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: P468S

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: P266S

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: P266S

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

probably benign
Transcript: ENSMUST00000186854

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189897
AA Change: P468S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: P468S

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

Meta Mutation Damage Score

0.1580

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (64/65)

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
1700113H08Rik	G	A	10: 87,206,199		probably null	Het
4930522H14Rik	G	A	4: 109,505,579	A181V	probably damaging	Het
Alk	A	T	17: 71,967,554	H587Q	possibly damaging	Het
Ascc3	A	G	10: 50,728,297	Y1371C	probably benign	Het
Asxl1	T	C	2: 153,396,813	F354S	probably damaging	Het
Cachd1	A	T	4: 100,967,014	I551F	possibly damaging	Het
Cacna1e	T	C	1: 154,471,403	E1068G	probably benign	Het
Cdc27	A	T	11: 104,513,004	M644K	probably damaging	Het
Chl1	T	C	6: 103,691,674	V456A	probably benign	Het
Ctxn1	A	G	8: 4,258,461	Y57H	probably damaging	Het
Cyp2c54	A	G	19: 40,070,244	I248T	probably benign	Het
Dchs2	A	G	3: 83,304,527	T1878A	probably benign	Het
Ddi2	A	G	4: 141,685,250	V117A	probably benign	Het
Dennd5a	G	T	7: 109,933,989	F191L	probably benign	Het
Dnm3	C	T	1: 161,992,050	R851H	possibly damaging	Het
Eif3l	G	A	15: 79,089,599	D405N	possibly damaging	Het
Espn	T	A	4: 152,131,281	D507V	possibly damaging	Het
Fam83f	A	T	15: 80,692,503	S452C	possibly damaging	Het
Fbxo22	A	C	9: 55,218,367	E171D	probably damaging	Het
Fgl2	T	C	5: 21,372,754	V13A	probably benign	Het
Fsip2	A	G	2: 82,976,700	H1121R	probably benign	Het
G0s2	A	T	1: 193,272,773	M1K	probably null	Het
Gm10093	A	C	17: 78,492,018	E146A	probably damaging	Het
Gnptab	G	A	10: 88,440,392		probably null	Het
Grm1	G	A	10: 11,080,352	P63S	probably benign	Het
Grsf1	G	A	5: 88,675,664		probably benign	Het
Hcfc1r1	G	A	17: 23,674,011	G10D	probably damaging	Het
Igsf11	T	C	16: 39,007,203	V41A	possibly damaging	Het
Il17a	C	A	1: 20,732,127	A20E	probably benign	Het
Kcnv2	A	G	19: 27,322,932	Y61C	probably damaging	Het
Kmt2c	A	G	5: 25,294,699	M481T	possibly damaging	Het
Krt40	A	T	11: 99,540,135	C263S	possibly damaging	Het
Larp1	T	C	11: 58,047,714	V441A	possibly damaging	Het
Lrwd1	T	C	5: 136,132,129	E300G	probably damaging	Het
Mcoln3	G	T	3: 146,139,475	W475C	probably damaging	Het
Mdga1	A	G	17: 29,839,822	I30T	probably benign	Het
Mmd	T	A	11: 90,267,607	V181D	probably benign	Het
Muc4	T	A	16: 32,752,558	L812*	probably null	Het
Mycbp2	T	C	14: 103,177,293	D2561G	probably benign	Het
Myh11	T	A	16: 14,209,617	E1251V		Het
Myl12a	G	T	17: 70,996,171	N95K	probably benign	Het
Myo1h	A	G	5: 114,328,811		probably null	Het
Ncf1	A	G	5: 134,222,095	V330A	possibly damaging	Het
Nfasc	T	C	1: 132,605,549	D638G	probably damaging	Het
Nkapl	T	C	13: 21,467,267	K392R	possibly damaging	Het
Olfr131	A	G	17: 38,082,402	V192A	probably benign	Het
Olfr2	A	T	7: 107,001,307	C184*	probably null	Het
Olfr914	A	G	9: 38,606,412		probably benign	Het
Pelo	T	A	13: 115,089,648	N91I	probably damaging	Het
Ptk2b	T	C	14: 66,158,401	N836D	probably benign	Het
Pwp2	A	T	10: 78,182,944		probably null	Het
Slc44a1	G	A	4: 53,517,657	V127I	probably benign	Het
Snx13	A	G	12: 35,105,175	T413A	probably benign	Het
Spaca7	C	T	8: 12,585,696	P71S	probably damaging	Het
Spef2	A	T	15: 9,609,551	M1296K	possibly damaging	Het
Suco	G	A	1: 161,829,321	A978V	probably benign	Het
Tcerg1	A	G	18: 42,536,937	E494G	probably benign	Het
Tenm2	A	G	11: 36,106,799	V821A	probably benign	Het
Tg	T	A	15: 66,693,263	D1151E	probably benign	Het
Trp53bp2	A	G	1: 182,455,819	E1040G	probably damaging	Het
Ubap2	A	T	4: 41,233,655	N79K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Yars2	T	G	16: 16,304,521		probably null	Het
Ylpm1	A	G	12: 85,048,866	I1847V	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
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
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'- GGAAGTAGGCCATTTGTGGAC -3'
(R):5'- ACAGAAGCAAGAGGCCCTTC -3'

Sequencing Primer
(F):5'- ACTTGGGACTGGCATGCTC -3'
(R):5'- TTCAACCCCGTCACGTGAG -3'

Posted On

2019-12-20