Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03391:Mylpf'

421048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylpf

Ensembl Gene

ENSMUSG00000030672

Gene Name

myosin light chain, phosphorylatable, fast skeletal muscle

Synonyms

MLC-2, MYL11, 2410014J02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03391

Quality Score

Status

Chromosome

Chromosomal Location

126808071-126813459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126812349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 17 (I17V)

Ref Sequence

ENSEMBL: ENSMUSP00000120915 (fasta)

Gene Model

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

AlphaFold

P97457

Predicted Effect

probably benign
Transcript: ENSMUST00000032910
AA Change: I37V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672
AA Change: I37V

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
AA Change: I17V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672
AA Change: I17V

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

probably benign
Transcript: ENSMUST00000206204
AA Change: I37V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000206772
AA Change: I17V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000152267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138541

Predicted Effect

probably benign
Transcript: ENSMUST00000133913

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

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,107 (GRCm39)	D586G	probably damaging	Het
Acadvl	A	C	11: 69,901,542 (GRCm39)	M557R	probably damaging	Het
Ano2	T	A	6: 125,784,802 (GRCm39)	N327K	probably damaging	Het
Cdh11	A	T	8: 103,400,655 (GRCm39)	D104E	possibly damaging	Het
Chrnb2	A	G	3: 89,668,184 (GRCm39)	F377S	probably damaging	Het
Cngb1	T	C	8: 96,030,333 (GRCm39)		probably benign	Het
Dnaaf1	C	T	8: 120,309,355 (GRCm39)	R148C	probably damaging	Het
Esrrg	A	T	1: 187,882,420 (GRCm39)	I226F	possibly damaging	Het
Evl	C	A	12: 108,642,358 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,070,128 (GRCm39)	E376G	probably damaging	Het
Gzf1	C	A	2: 148,525,603 (GRCm39)	R25S	probably damaging	Het
Ighv5-2	A	T	12: 113,542,138 (GRCm39)	Y113*	probably null	Het
Izumo4	A	G	10: 80,540,947 (GRCm39)	T216A	probably damaging	Het
Lrp1b	T	G	2: 41,185,653 (GRCm39)	Y1354S	possibly damaging	Het
Mark1	A	G	1: 184,651,632 (GRCm39)		probably benign	Het
Myo18b	C	A	5: 113,022,345 (GRCm39)		probably benign	Het
Nbas	C	T	12: 13,533,750 (GRCm39)	A1795V	probably benign	Het
Oprm1	A	C	10: 6,964,077 (GRCm39)		probably benign	Het
Or2ag15	A	T	7: 106,340,962 (GRCm39)	Y60N	probably damaging	Het
Or5b122	A	G	19: 13,563,483 (GRCm39)	M272V	probably benign	Het
Or5w1	A	G	2: 87,487,032 (GRCm39)	S78P	possibly damaging	Het
Parp14	T	C	16: 35,678,640 (GRCm39)	M443V	probably benign	Het
Psca	T	C	15: 74,586,717 (GRCm39)	F5S	probably benign	Het
Ptbp2	A	T	3: 119,514,031 (GRCm39)	Y514*	probably null	Het
Scg3	A	G	9: 75,568,533 (GRCm39)		probably null	Het
Scn2a	T	C	2: 65,594,557 (GRCm39)	V1802A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,072 (GRCm39)	S280P	possibly damaging	Het
Slc39a14	T	C	14: 70,547,291 (GRCm39)	I352V	probably damaging	Het
Slc6a2	G	T	8: 93,688,080 (GRCm39)	V69L	probably damaging	Het
Slc8a1	A	G	17: 81,740,067 (GRCm39)		probably benign	Het
Tjp1	T	C	7: 64,964,717 (GRCm39)	D818G	probably damaging	Het
Tnfaip8	T	C	18: 50,223,552 (GRCm39)	V120A	probably damaging	Het
Trmt5	G	A	12: 73,328,226 (GRCm39)	H326Y	probably benign	Het
Vmn1r222	T	C	13: 23,416,632 (GRCm39)	M194V	possibly damaging	Het
Zbtb17	A	G	4: 141,194,069 (GRCm39)	E699G	probably damaging	Het

Other mutations in Mylpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02306:Mylpf	APN	7	126,812,330 (GRCm39)	splice site	probably benign
IGL02559:Mylpf	APN	7	126,813,315 (GRCm39)	missense	probably damaging	1.00
IGL02931:Mylpf	APN	7	126,812,798 (GRCm39)	missense	probably benign	0.01
R1674:Mylpf	UTSW	7	126,813,309 (GRCm39)	missense	probably damaging	1.00
R7058:Mylpf	UTSW	7	126,813,139 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02