Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Myrf'

584585

Institutional Source

Beutler Lab

Gene Symbol

Myrf

Ensembl Gene

ENSMUSG00000036098

Gene Name

myelin regulatory factor

Synonyms

Gm98, LOC386531, LOC225908

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R7553 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

10208272-10240748 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10228876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 59 (F59L)

Ref Sequence

ENSEMBL: ENSMUSP00000085329 (fasta)

Gene Model

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

AlphaFold

Q3UR85

Predicted Effect

probably benign
Transcript: ENSMUST00000088013
AA Change: F59L

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

SMART Domains

Protein: ENSMUSP00000085329
Gene: ENSMUSG00000036098
AA Change: F59L

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

SMART Domains

Protein: ENSMUSP00000140871
Gene: ENSMUSG00000036098

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: ENSMUST00000189897
AA Change: F59L

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

SMART Domains

Protein: ENSMUSP00000139601
Gene: ENSMUSG00000036098
AA Change: F59L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	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
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'- ACACTGTGCCCCTAAATCCTG -3'
(R):5'- TACATTGGCAAAGAGGACGC -3'

Sequencing Primer
(F):5'- ACTCACCCTGGGGCATAG -3'
(R):5'- GACGCCTCTGATCTGTGAGTCAC -3'

Posted On

2019-10-17