Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01074:Myrfl'

52056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myrfl

Ensembl Gene

ENSMUSG00000034057

Gene Name

myelin regulatory factor-like

Synonyms

LOC237558, Gm239

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01074

Quality Score

Status

Chromosome

Chromosomal Location

116776535-116896919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116779585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 802 (N802S)

Ref Sequence

ENSEMBL: ENSMUSP00000037477 (fasta)

Gene Model

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

AlphaFold

Q3UN70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048229
AA Change: N802S

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037477
Gene: ENSMUSG00000034057
AA Change: N802S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,013,892	D1934G	possibly damaging	Het
Adcy2	A	T	13: 68,796,654	I203N	possibly damaging	Het
Asxl3	T	C	18: 22,522,845	V1304A	probably damaging	Het
Cmah	A	G	13: 24,464,255	D491G	possibly damaging	Het
Cobll1	A	G	2: 65,107,848	S364P	probably damaging	Het
Cspg4	T	C	9: 56,898,865	L2320P	probably damaging	Het
Defa5	T	A	8: 21,297,576	F46L	possibly damaging	Het
Erich6b	T	A	14: 75,658,768	N31K	probably benign	Het
Fcrl6	C	T	1: 172,599,113	V89M	possibly damaging	Het
Gm5458	G	T	14: 19,599,692	L155I	probably damaging	Het
Hlx	T	C	1: 184,727,813	D376G	probably damaging	Het
Hmcn1	A	G	1: 150,627,033	S3948P	possibly damaging	Het
Igf2bp2	G	A	16: 22,063,704	R416W	probably damaging	Het
Lama4	T	C	10: 39,098,488		probably null	Het
Lingo4	T	C	3: 94,403,288	V511A	probably benign	Het
Mllt3	C	A	4: 87,791,881	V29L	probably benign	Het
Mmp16	T	C	4: 18,110,584		probably benign	Het
Moxd1	A	G	10: 24,279,384	R228G	probably benign	Het
Nmu	C	A	5: 76,343,927	V121F	probably damaging	Het
Npepps	T	C	11: 97,217,811	T760A	probably damaging	Het
Ogfod1	G	T	8: 94,063,006	W445L	probably damaging	Het
Olfr1221	T	C	2: 89,111,679	T278A	probably benign	Het
Oplah	G	A	15: 76,305,748	P222S	probably damaging	Het
Slc4a4	T	A	5: 89,179,774	L699H	probably damaging	Het
Sod3	C	T	5: 52,368,198	Q80*	probably null	Het
Syne2	C	T	12: 76,031,587	Q4732*	probably null	Het
Syne2	T	C	12: 75,987,011	I3678T	probably benign	Het
Tedc1	C	T	12: 113,163,188	R357*	probably null	Het
Tmem220	T	C	11: 67,032,173		probably benign	Het
Uhrf1bp1	A	G	17: 27,879,291	I136V	possibly damaging	Het
Ush1c	A	G	7: 46,225,250		probably benign	Het
Wbp2nl	T	C	15: 82,314,290	S343P	possibly damaging	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
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
R1078:Myrfl	UTSW	10	116776732	missense	possibly damaging	0.94
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

Posted On

2013-06-21