Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02306:Mylpf'

287615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylpf

Ensembl Gene

ENSMUSG00000030672

Gene Name

myosin light chain, phosphorylatable, fast skeletal muscle

Synonyms

2410014J02Rik, MLC-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

127208890-127214298 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 127213158 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000120705] [ENSMUST00000127710] [ENSMUST00000133913] [ENSMUST00000142356] [ENSMUST00000152267] [ENSMUST00000206204] [ENSMUST00000206772]

Predicted Effect

probably benign
Transcript: ENSMUST00000032910

SMART Domains

Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
EFh	29	57	9.77e-5	SMART
EFh	99	127	4.45e1	SMART
Blast:EFh	135	163	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106313

SMART Domains

Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486

Domain	Start	End	E-Value	Type
Pfam:DUF258	1	74	4.2e-8	PFAM
Pfam:MMR_HSR1	1	200	5.7e-8	PFAM
Pfam:Septin	1	274	5.7e-120	PFAM
coiled coil region	297	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106314

SMART Domains

Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486

Domain	Start	End	E-Value	Type
Pfam:Septin	22	302	3.9e-124	PFAM
Pfam:MMR_HSR1	27	171	6.2e-9	PFAM
low complexity region	349	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120705

SMART Domains

Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492

Domain	Start	End	E-Value	Type
low complexity region	10	33	N/A	INTRINSIC
low complexity region	66	81	N/A	INTRINSIC
low complexity region	129	143	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC
Blast:TBC	274	305	6e-10	BLAST
TBC	343	557	8.23e-57	SMART
low complexity region	632	678	N/A	INTRINSIC
coiled coil region	701	769	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127710

SMART Domains

Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672

Domain	Start	End	E-Value	Type
Pfam:EF-hand_8	7	34	9.7e-3	PFAM
Pfam:EF-hand_1	9	37	1.6e-6	PFAM
Pfam:EF-hand_6	9	38	1.6e-6	PFAM
Pfam:EF-hand_8	21	54	5.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133733

Predicted Effect

probably benign
Transcript: ENSMUST00000133913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139613

Predicted Effect

probably benign
Transcript: ENSMUST00000142356

SMART Domains

Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486

Domain	Start	End	E-Value	Type
Pfam:DUF258	1	74	1.4e-8	PFAM
Pfam:MMR_HSR1	1	172	1.4e-8	PFAM
Pfam:Septin	1	186	3.1e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143222

Predicted Effect

probably benign
Transcript: ENSMUST00000152267

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

probably benign
Transcript: ENSMUST00000206772

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a disruption in this gene die immediately after birth and completely lack skeletal muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,158,395	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,265,457	W846*	probably null	Het
Adam34	G	A	8: 43,650,485	R708C	probably benign	Het
Adam6a	T	A	12: 113,545,723	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,565,704	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,187,986	F267Y	probably benign	Het
Car7	A	G	8: 104,548,998	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,142,022	M509K	probably benign	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cd163l1	T	C	7: 140,223,356	C278R	probably damaging	Het
Cmya5	C	T	13: 93,098,019	G187D	probably damaging	Het
Crot	A	T	5: 8,968,701	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,372,971	T4I	probably benign	Het
Cyp2a12	A	G	7: 27,032,583	K250E	probably damaging	Het
Deaf1	T	C	7: 141,324,181		probably null	Het
Dse	C	T	10: 34,160,134	E249K	probably damaging	Het
E4f1	G	T	17: 24,446,929	R88S	probably damaging	Het
Fam160b2	T	C	14: 70,588,997	D217G	probably benign	Het
Fam83a	A	C	15: 57,995,308	D248A	probably damaging	Het
Hadhb	T	A	5: 30,166,749	L66Q	probably null	Het
Kalrn	T	C	16: 34,310,527	E440G	probably damaging	Het
Kif3b	A	G	2: 153,320,652	Y527C	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,978,266	V263E	probably damaging	Het
Mms19	A	G	19: 41,966,264	L72P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Nedd4l	T	G	18: 65,172,954	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,964,824	D240E	probably damaging	Het
Obscn	A	T	11: 58,999,671	I7345N	unknown	Het
Olfr1189	A	T	2: 88,592,606	K267N	probably benign	Het
Ostn	A	T	16: 27,346,941	S127C	probably damaging	Het
Patl1	A	G	19: 11,942,886	K735E	possibly damaging	Het
Pde12	A	G	14: 26,668,378	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,660,774	I213V	probably benign	Het
Plxna4	T	A	6: 32,206,124	Y948F	probably benign	Het
Prlhr	A	T	19: 60,467,915	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,674	P412S	probably benign	Het
Prmt9	A	G	8: 77,560,818	K196R	probably benign	Het
Rundc3a	T	A	11: 102,400,938	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,834,114	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,847,399		probably null	Het
Sfxn2	T	A	19: 46,590,548	M240K	probably damaging	Het
Skor2	T	C	18: 76,862,679	S901P	probably benign	Het
Smad4	T	C	18: 73,662,869		probably null	Het
Snrnp40	T	G	4: 130,365,100	C100W	probably benign	Het
Spink5	T	A	18: 43,964,444	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,556,055		probably benign	Het
Wdr59	G	A	8: 111,492,733	L231F	probably damaging	Het

Other mutations in Mylpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02559:Mylpf	APN	7	127214143	missense	probably damaging	1.00
IGL02931:Mylpf	APN	7	127213626	missense	probably benign	0.01
IGL03391:Mylpf	APN	7	127213177	missense	probably benign	0.11
R1674:Mylpf	UTSW	7	127214137	missense	probably damaging	1.00
R7058:Mylpf	UTSW	7	127213967	missense	probably damaging	1.00

Posted On

2015-04-16