Mutagenetix > Incidental Mutation

Incidental Mutation 'R1329:Myrfl'

156123

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 #

R1329 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116612450-116732784 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 116613247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037477 (fasta)

Gene Model

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

AlphaFold

Q3UN70

Predicted Effect

probably null
Transcript: ENSMUST00000048229

SMART Domains

Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057

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

0.9489

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	T	4: 152,314,241 (GRCm39)	Q188*	probably null	Het
Ano5	T	C	7: 51,196,533 (GRCm39)	Y141H	probably benign	Het
Atg101	G	A	15: 101,188,171 (GRCm39)	G92D	probably null	Het
Brwd1	A	G	16: 95,804,434 (GRCm39)	I1912T	probably benign	Het
Cad	G	T	5: 31,216,926 (GRCm39)	G263W	probably damaging	Het
Clstn2	T	C	9: 97,340,227 (GRCm39)	E715G	probably damaging	Het
Cracd	A	G	5: 76,805,779 (GRCm39)		probably benign	Het
Dbp	C	T	7: 45,357,752 (GRCm39)	P70S	probably damaging	Het
Fem1al	T	A	11: 29,773,553 (GRCm39)	N635Y	probably benign	Het
Gpr61	T	A	3: 108,057,830 (GRCm39)	H277L	probably benign	Het
Gsdma3	G	T	11: 98,523,218 (GRCm39)	V203F	probably damaging	Het
Ifih1	G	C	2: 62,447,831 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,246,020 (GRCm39)	C404S	possibly damaging	Het
Nfat5	T	G	8: 108,095,659 (GRCm39)	M1300R	probably benign	Het
Nfrkb	C	T	9: 31,325,943 (GRCm39)	P1129S	possibly damaging	Het
Nubp2	A	T	17: 25,102,838 (GRCm39)	N208K	possibly damaging	Het
Or8g20	A	G	9: 39,395,740 (GRCm39)	S270P	probably damaging	Het
Ovch2	T	C	7: 107,384,653 (GRCm39)	D488G	probably damaging	Het
Rfx6	A	T	10: 51,569,833 (GRCm39)	Y202F	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Usp4	T	A	9: 108,249,765 (GRCm39)	V431E	probably damaging	Het
Vil1	A	G	1: 74,466,717 (GRCm39)	I636V	probably benign	Het
Vmn2r116	A	G	17: 23,606,162 (GRCm39)	N358S	possibly damaging	Het
Wdr47	T	A	3: 108,534,615 (GRCm39)	N511K	probably benign	Het
Wdr5	T	A	2: 27,421,683 (GRCm39)	F222I	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
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
V7582:Myrfl	UTSW	10	116,697,435 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCCCTTGACAACTGTAGGAGAG -3'
(R):5'- CATCAATGGAGGAGTGCCACTCAG -3'

Sequencing Primer
(F):5'- GATCTATGTCGCTAGAACAGTCTG -3'
(R):5'- gagagcaagccaataagcag -3'

Posted On

2014-02-11