Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Myrf'

49395

Institutional Source

Beutler Lab

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.811) question?

Stock #

R0534 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 10218162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 428 (T428S)

Ref Sequence

ENSEMBL: ENSMUSP00000140871 (fasta)

Gene Model

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

AlphaFold

Q3UR85

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: T630S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: T630S

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: ENSMUST00000186056
AA Change: T428S

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

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098
AA Change: T428S

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

probably benign
Transcript: ENSMUST00000189897
AA Change: T630S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: T630S

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

0.0758

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

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
4933416C03Rik	T	C	10: 116,112,802	E273G	possibly damaging	Het
4933425L06Rik	C	A	13: 105,082,254	S32*	probably null	Het
Cand2	A	G	6: 115,787,236	M324V	probably damaging	Het
Cap1	C	T	4: 122,862,719	V340M	probably benign	Het
Ccdc110	T	C	8: 45,935,138	V44A	possibly damaging	Het
Cps1	A	G	1: 67,143,900	D139G	probably benign	Het
Cwc27	T	A	13: 104,631,616	E457V	unknown	Het
Cxxc1	C	T	18: 74,218,891	P280S	probably benign	Het
Dopey2	T	A	16: 93,762,505	L595Q	probably benign	Het
Dscam	G	T	16: 96,652,172	S1292R	possibly damaging	Het
E2f4	C	A	8: 105,304,219	F353L	probably damaging	Het
Ep300	A	G	15: 81,600,896		probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fign	T	A	2: 63,980,791	H45L	probably damaging	Het
Flcn	T	A	11: 59,794,199		probably benign	Het
Gm5141	A	T	13: 62,774,594	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,591,268	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,824	C340*	probably null	Het
Gtf3c2	A	T	5: 31,158,132		probably benign	Het
Hcfc2	T	A	10: 82,738,408	F139I	probably damaging	Het
Hectd4	T	C	5: 121,348,476	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 45,337,235		probably benign	Het
Igf2bp1	A	G	11: 95,966,796		probably benign	Het
Igsf9b	T	G	9: 27,333,062		probably null	Het
Il23r	G	A	6: 67,426,588	A443V	probably benign	Het
Kcnv1	A	G	15: 45,109,249	F413L	probably damaging	Het
Lipe	C	A	7: 25,388,186	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,557,273	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,266,853	W13L	probably damaging	Het
Npy1r	C	A	8: 66,705,018	Q327K	probably damaging	Het
Olfr64	C	T	7: 103,893,231	R168H	probably benign	Het
Osbpl10	C	T	9: 115,167,178	L139F	probably damaging	Het
P2rx6	A	C	16: 17,567,904	T199P	probably damaging	Het
Phyhip	A	T	14: 70,461,759	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,120,130	I342N	possibly damaging	Het
Reln	A	T	5: 21,947,408	D2353E	probably damaging	Het
Rmdn3	T	C	2: 119,146,370	E294G	probably benign	Het
Scnn1g	A	G	7: 121,767,424	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,428,568	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,425,280	S1345P	possibly damaging	Het
Soga3	T	A	10: 29,180,956		probably benign	Het
St5	A	T	7: 109,541,428	V197D	probably damaging	Het
Timp4	A	G	6: 115,249,841	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,224,887	L459Q	probably benign	Het
Tmem104	C	A	11: 115,200,828	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Zfp622	A	T	15: 25,984,568	I7F	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
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
R7838:Myrf	UTSW	19	10219619	missense	possibly damaging	0.55
R8340:Myrf	UTSW	19	10215341	missense	probably benign	0.01
R8712:Myrf	UTSW	19	10215070	missense	probably benign	0.38
R8876:Myrf	UTSW	19	10229014	splice site	probably benign
R8932:Myrf	UTSW	19	10223567	missense	probably benign	0.03
R9111:Myrf	UTSW	19	10214057	critical splice donor site	probably null
R9496:Myrf	UTSW	19	10216476	missense	probably benign	0.19
R9648:Myrf	UTSW	19	10210646	missense	possibly damaging	0.75
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'- ATATCCCAATAGCAGAGGCGCAGG -3'
(R):5'- GGCCAGTTTGAAAGTGACAGTGACG -3'

Sequencing Primer
(F):5'- GGACCCCAAAGGGTCAATATTTC -3'
(R):5'- AGCTGCCAGATACGGTCTTC -3'

Posted On

2013-06-12