Mutagenetix > Incidental Mutation

Incidental Mutation 'R2317:Myrfl'

245532

Institutional Source

Beutler Lab

Gene Symbol

Myrfl

Ensembl Gene

ENSMUSG00000034057

Gene Name

myelin regulatory factor-like

Synonyms

Gm239, LOC237558

MMRRC Submission

040312-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116612450-116732784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116675289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 215 (Y215H)

Ref Sequence

ENSEMBL: ENSMUSP00000037477 (fasta)

Gene Model

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

AlphaFold

Q3UN70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048229
AA Change: Y215H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: Y215H

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc102a	T	C	8: 95,634,957 (GRCm39)	D327G	probably null	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cfap126	A	G	1: 170,953,700 (GRCm39)	D134G	possibly damaging	Het
Cript	T	C	17: 87,335,139 (GRCm39)	L19P	probably benign	Het
Cwf19l1	A	C	19: 44,120,597 (GRCm39)	L39V	possibly damaging	Het
Eif2b4	T	C	5: 31,348,920 (GRCm39)		probably null	Het
Esp16	A	G	17: 39,850,738 (GRCm39)	N39S	probably benign	Het
Fbxo30	A	G	10: 11,166,078 (GRCm39)	N267D	probably damaging	Het
Gabra6	T	C	11: 42,208,607 (GRCm39)		probably null	Het
Gp1ba	A	G	11: 70,531,473 (GRCm39)		probably benign	Het
Klf12	C	T	14: 100,179,503 (GRCm39)	R279Q	probably benign	Het
Lats1	C	T	10: 7,567,540 (GRCm39)	Q104*	probably null	Het
Ncoa1	A	G	12: 4,325,189 (GRCm39)	I963T	probably damaging	Het
Neurod6	A	G	6: 55,655,906 (GRCm39)	Y244H	probably damaging	Het
Nodal	T	C	10: 61,254,212 (GRCm39)	M45T	possibly damaging	Het
Nuggc	A	G	14: 65,861,591 (GRCm39)	E479G	possibly damaging	Het
Pdcd6ip	T	C	9: 113,501,842 (GRCm39)	D467G	probably benign	Het
Pnmt	C	A	11: 98,277,677 (GRCm39)	Q74K	probably benign	Het
Slc25a36	G	A	9: 96,961,235 (GRCm39)	T267I	probably damaging	Het
Slc35e3	A	G	10: 117,580,804 (GRCm39)	S167P	probably damaging	Het
Sprr2f	C	A	3: 92,273,390 (GRCm39)	P63H	unknown	Het
Stt3a	T	C	9: 36,659,371 (GRCm39)	I323V	probably benign	Het
Tedc2	A	G	17: 24,435,358 (GRCm39)	S344P	probably benign	Het
Unc13b	A	G	4: 43,245,514 (GRCm39)	D3722G	probably damaging	Het
Zfp35	T	C	18: 24,136,555 (GRCm39)	Y300H	probably damaging	Het
Zfp959	A	G	17: 56,204,326 (GRCm39)	D121G	possibly 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
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'- ACCTTCTCAATGGCTCAGCTG -3'
(R):5'- CCAGCACTCATAGCTCCCTTAG -3'

Sequencing Primer
(F):5'- CTCAATGGCTCAGCTGGTTTGATC -3'
(R):5'- TAGTCATTCTGCTTCACACACAAC -3'

Posted On

2014-10-30