Mutagenetix > Incidental Mutation

Incidental Mutation 'V7582:Myrfl'

152610

Institutional Source

Beutler Lab

Gene Symbol

Myrfl

Ensembl Gene

ENSMUSG00000034057

Gene Name

myelin regulatory factor-like

Synonyms

Gm239, LOC237558

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V7582 () of strain stinger

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

116612450-116732784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116697435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000037477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048229]

AlphaFold

Q3UN70

Predicted Effect

probably damaging
Transcript: ENSMUST00000048229
AA Change: T30A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: T30A

Domain	Start	End	E-Value	Type
Pfam:NDT80_PhoG	252	399	3.4e-29	PFAM
Pfam:Peptidase_S74	446	505	1.6e-18	PFAM
Pfam:MRF_C1	525	560	1.8e-24	PFAM
low complexity region	562	601	N/A	INTRINSIC
transmembrane domain	625	647	N/A	INTRINSIC
low complexity region	663	691	N/A	INTRINSIC
Pfam:MRF_C2	765	903	4e-53	PFAM

Meta Mutation Damage Score

0.1231

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Med20	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het

Other mutations in Myrfl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Myrfl	APN	10	116,632,011 (GRCm39)	missense	possibly damaging	0.46
IGL00824:Myrfl	APN	10	116,685,264 (GRCm39)	splice site	probably benign
IGL01074:Myrfl	APN	10	116,615,490 (GRCm39)	missense	possibly damaging	0.50
IGL01394:Myrfl	APN	10	116,658,592 (GRCm39)	missense	probably benign	0.01
IGL02283:Myrfl	APN	10	116,613,265 (GRCm39)	missense	probably benign	0.33
IGL02869:Myrfl	APN	10	116,664,909 (GRCm39)	missense	probably damaging	0.98
IGL02878:Myrfl	APN	10	116,613,310 (GRCm39)	missense	possibly damaging	0.70
IGL03112:Myrfl	APN	10	116,639,311 (GRCm39)	missense	probably benign	0.03
F5770:Myrfl	UTSW	10	116,697,435 (GRCm39)	missense	probably damaging	1.00
R0138:Myrfl	UTSW	10	116,685,138 (GRCm39)	missense	probably damaging	0.98
R0402:Myrfl	UTSW	10	116,664,882 (GRCm39)	missense	probably damaging	1.00
R0554:Myrfl	UTSW	10	116,664,878 (GRCm39)	missense	probably damaging	1.00
R0601:Myrfl	UTSW	10	116,612,665 (GRCm39)	missense	probably damaging	1.00
R0790:Myrfl	UTSW	10	116,653,693 (GRCm39)	missense	probably damaging	0.99
R0831:Myrfl	UTSW	10	116,619,114 (GRCm39)	missense	probably benign	0.06
R0931:Myrfl	UTSW	10	116,675,354 (GRCm39)	missense	probably benign	0.01
R0945:Myrfl	UTSW	10	116,639,299 (GRCm39)	splice site	probably benign
R1078:Myrfl	UTSW	10	116,612,637 (GRCm39)	missense	possibly damaging	0.94
R1187:Myrfl	UTSW	10	116,667,447 (GRCm39)	missense	probably damaging	1.00
R1329:Myrfl	UTSW	10	116,613,247 (GRCm39)	critical splice donor site	probably null
R1432:Myrfl	UTSW	10	116,613,332 (GRCm39)	missense	probably damaging	1.00
R1762:Myrfl	UTSW	10	116,634,498 (GRCm39)	missense	probably damaging	1.00
R1827:Myrfl	UTSW	10	116,668,852 (GRCm39)	missense	probably damaging	0.99
R1952:Myrfl	UTSW	10	116,658,716 (GRCm39)	missense	probably benign	0.00
R2138:Myrfl	UTSW	10	116,631,443 (GRCm39)	missense	probably benign	0.00
R2317:Myrfl	UTSW	10	116,675,289 (GRCm39)	missense	possibly damaging	0.77
R2930:Myrfl	UTSW	10	116,653,652 (GRCm39)	missense	probably damaging	1.00
R3405:Myrfl	UTSW	10	116,658,770 (GRCm39)	missense	probably damaging	1.00
R4118:Myrfl	UTSW	10	116,664,870 (GRCm39)	missense	probably damaging	1.00
R4700:Myrfl	UTSW	10	116,613,247 (GRCm39)	critical splice donor site	probably null
R5039:Myrfl	UTSW	10	116,658,616 (GRCm39)	missense	probably damaging	1.00
R5097:Myrfl	UTSW	10	116,653,609 (GRCm39)	missense	probably damaging	1.00
R5138:Myrfl	UTSW	10	116,631,963 (GRCm39)	critical splice donor site	probably null
R5211:Myrfl	UTSW	10	116,634,535 (GRCm39)	missense	probably benign	0.00
R5249:Myrfl	UTSW	10	116,619,138 (GRCm39)	missense	probably benign
R5573:Myrfl	UTSW	10	116,658,661 (GRCm39)	missense	probably damaging	0.98
R6033:Myrfl	UTSW	10	116,685,006 (GRCm39)	missense	probably benign
R6033:Myrfl	UTSW	10	116,685,006 (GRCm39)	missense	probably benign
R6091:Myrfl	UTSW	10	116,685,111 (GRCm39)	missense	probably benign
R6315:Myrfl	UTSW	10	116,658,724 (GRCm39)	missense	possibly damaging	0.81
R6812:Myrfl	UTSW	10	116,668,818 (GRCm39)	missense	probably damaging	1.00
R6867:Myrfl	UTSW	10	116,684,187 (GRCm39)	nonsense	probably null
R7019:Myrfl	UTSW	10	116,617,852 (GRCm39)	critical splice donor site	probably null
R7059:Myrfl	UTSW	10	116,685,111 (GRCm39)	missense	probably benign
R7181:Myrfl	UTSW	10	116,697,448 (GRCm39)	missense	probably damaging	0.96
R7471:Myrfl	UTSW	10	116,697,417 (GRCm39)	missense	possibly damaging	0.95
R7574:Myrfl	UTSW	10	116,667,430 (GRCm39)	nonsense	probably null
R7584:Myrfl	UTSW	10	116,664,902 (GRCm39)	missense	probably damaging	1.00
R7667:Myrfl	UTSW	10	116,675,258 (GRCm39)	missense	possibly damaging	0.88
R7801:Myrfl	UTSW	10	116,684,240 (GRCm39)	missense	probably benign
R8728:Myrfl	UTSW	10	116,634,545 (GRCm39)	nonsense	probably null
R8769:Myrfl	UTSW	10	116,612,696 (GRCm39)	missense	probably damaging	1.00
R8797:Myrfl	UTSW	10	116,613,325 (GRCm39)	missense	probably benign	0.16
R8986:Myrfl	UTSW	10	116,658,746 (GRCm39)	missense	probably damaging	1.00
R9167:Myrfl	UTSW	10	116,667,450 (GRCm39)	missense	probably damaging	0.99
R9366:Myrfl	UTSW	10	116,670,358 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- ACTGGACTTGCTGCAAAGGGAG -3'
(R):5'- GAATGCTACAGCAGCCTCAGACAG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAAGTCTTGCTGGAAAGAGTTATC -3'

Posted On

2014-01-29