Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Myrfl'

85739

Institutional Source

Beutler Lab

Gene Symbol

Myrfl

Ensembl Gene

ENSMUSG00000034057

Gene Name

myelin regulatory factor-like

Synonyms

LOC237558, Gm239

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116776535-116896919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116776732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 904 (N904S)

Ref Sequence

ENSEMBL: ENSMUSP00000037477 (fasta)

Gene Model

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

AlphaFold

Q3UN70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048229
AA Change: N904S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: N904S

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

0.1795

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Myrfl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Myrfl	APN	10	116796106	missense	possibly damaging	0.46
IGL00824:Myrfl	APN	10	116849359	splice site	probably benign
IGL01074:Myrfl	APN	10	116779585	missense	possibly damaging	0.50
IGL01394:Myrfl	APN	10	116822687	missense	probably benign	0.01
IGL02283:Myrfl	APN	10	116777360	missense	probably benign	0.33
IGL02869:Myrfl	APN	10	116829004	missense	probably damaging	0.98
IGL02878:Myrfl	APN	10	116777405	missense	possibly damaging	0.70
IGL03112:Myrfl	APN	10	116803406	missense	probably benign	0.03
F5770:Myrfl	UTSW	10	116861530	missense	probably damaging	1.00
R0138:Myrfl	UTSW	10	116849233	missense	probably damaging	0.98
R0402:Myrfl	UTSW	10	116828977	missense	probably damaging	1.00
R0554:Myrfl	UTSW	10	116828973	missense	probably damaging	1.00
R0601:Myrfl	UTSW	10	116776760	missense	probably damaging	1.00
R0790:Myrfl	UTSW	10	116817788	missense	probably damaging	0.99
R0831:Myrfl	UTSW	10	116783209	missense	probably benign	0.06
R0931:Myrfl	UTSW	10	116839449	missense	probably benign	0.01
R0945:Myrfl	UTSW	10	116803394	splice site	probably benign
R1187:Myrfl	UTSW	10	116831542	missense	probably damaging	1.00
R1329:Myrfl	UTSW	10	116777342	critical splice donor site	probably null
R1432:Myrfl	UTSW	10	116777427	missense	probably damaging	1.00
R1762:Myrfl	UTSW	10	116798593	missense	probably damaging	1.00
R1827:Myrfl	UTSW	10	116832947	missense	probably damaging	0.99
R1952:Myrfl	UTSW	10	116822811	missense	probably benign	0.00
R2138:Myrfl	UTSW	10	116795538	missense	probably benign	0.00
R2317:Myrfl	UTSW	10	116839384	missense	possibly damaging	0.77
R2930:Myrfl	UTSW	10	116817747	missense	probably damaging	1.00
R3405:Myrfl	UTSW	10	116822865	missense	probably damaging	1.00
R4118:Myrfl	UTSW	10	116828965	missense	probably damaging	1.00
R4700:Myrfl	UTSW	10	116777342	critical splice donor site	probably null
R5039:Myrfl	UTSW	10	116822711	missense	probably damaging	1.00
R5097:Myrfl	UTSW	10	116817704	missense	probably damaging	1.00
R5138:Myrfl	UTSW	10	116796058	critical splice donor site	probably null
R5211:Myrfl	UTSW	10	116798630	missense	probably benign	0.00
R5249:Myrfl	UTSW	10	116783233	missense	probably benign
R5573:Myrfl	UTSW	10	116822756	missense	probably damaging	0.98
R6033:Myrfl	UTSW	10	116849101	missense	probably benign
R6033:Myrfl	UTSW	10	116849101	missense	probably benign
R6091:Myrfl	UTSW	10	116849206	missense	probably benign
R6315:Myrfl	UTSW	10	116822819	missense	possibly damaging	0.81
R6812:Myrfl	UTSW	10	116832913	missense	probably damaging	1.00
R6867:Myrfl	UTSW	10	116848282	nonsense	probably null
R7019:Myrfl	UTSW	10	116781947	critical splice donor site	probably null
R7059:Myrfl	UTSW	10	116849206	missense	probably benign
R7181:Myrfl	UTSW	10	116861543	missense	probably damaging	0.96
R7471:Myrfl	UTSW	10	116861512	missense	possibly damaging	0.95
R7574:Myrfl	UTSW	10	116831525	nonsense	probably null
R7584:Myrfl	UTSW	10	116828997	missense	probably damaging	1.00
R7667:Myrfl	UTSW	10	116839353	missense	possibly damaging	0.88
R7801:Myrfl	UTSW	10	116848335	missense	probably benign
R8728:Myrfl	UTSW	10	116798640	nonsense	probably null
R8769:Myrfl	UTSW	10	116776791	missense	probably damaging	1.00
R8797:Myrfl	UTSW	10	116777420	missense	probably benign	0.16
R8986:Myrfl	UTSW	10	116822841	missense	probably damaging	1.00
R9167:Myrfl	UTSW	10	116831545	missense	probably damaging	0.99
R9366:Myrfl	UTSW	10	116834453	missense	possibly damaging	0.50
V7582:Myrfl	UTSW	10	116861530	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGCTGTGTTTTCAGAGCCACC -3'
(R):5'- TCCGACAGCGCATACCATTTCC -3'

Sequencing Primer
(F):5'- TGTTTTCAGAGCCACCAGAGAAG -3'
(R):5'- CGCATACCATTTCCGGGTAG -3'

Posted On

2013-11-18