Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02931:Mylpf'

364107

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 #

IGL02931

Quality Score

Status

Chromosome

Chromosomal Location

126808071-126813459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126812798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 98 (D98E)

Ref Sequence

ENSEMBL: ENSMUSP00000032910 (fasta)

Gene Model

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

AlphaFold

P97457

Predicted Effect

probably benign
Transcript: ENSMUST00000032910
AA Change: D98E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672
AA Change: D98E

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: 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: ENSMUST00000206772
AA Change: D78E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143222

Predicted Effect

probably benign
Transcript: ENSMUST00000206204

Predicted Effect

probably benign
Transcript: ENSMUST00000133913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138541

Predicted Effect

probably benign
Transcript: ENSMUST00000152267

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,029,012 (GRCm39)	R254Q	probably benign	Het
Adgrv1	T	C	13: 81,727,833 (GRCm39)	Y269C	probably damaging	Het
Apol7a	C	A	15: 77,277,650 (GRCm39)	E33*	probably null	Het
Arhgap29	T	C	3: 121,786,509 (GRCm39)	V358A	probably benign	Het
B3galt1	T	C	2: 67,948,728 (GRCm39)	S148P	probably damaging	Het
BC061237	A	G	14: 44,740,779 (GRCm39)	N60D	possibly damaging	Het
Bcl9l	C	T	9: 44,412,047 (GRCm39)	P11L	probably damaging	Het
Ccdc89	A	C	7: 90,076,110 (GRCm39)	K107Q	probably benign	Het
Col27a1	T	C	4: 63,249,663 (GRCm39)		probably benign	Het
Col5a2	T	C	1: 45,424,225 (GRCm39)	D1067G	probably damaging	Het
Col9a2	A	T	4: 120,910,389 (GRCm39)	R511S	probably benign	Het
Disp3	G	A	4: 148,333,658 (GRCm39)	S1060F	possibly damaging	Het
Dusp8	T	C	7: 141,636,667 (GRCm39)	T308A	probably benign	Het
Ern1	T	C	11: 106,314,266 (GRCm39)	N178S	probably damaging	Het
Gas6	C	A	8: 13,527,136 (GRCm39)	C204F	probably damaging	Het
Gga1	T	C	15: 78,777,522 (GRCm39)	S558P	possibly damaging	Het
Gli1	T	C	10: 127,168,279 (GRCm39)	T525A	probably benign	Het
Gse1	A	G	8: 121,304,808 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,532,958 (GRCm39)	S3075L	probably benign	Het
Hnf4a	G	A	2: 163,408,037 (GRCm39)		probably benign	Het
Htt	A	T	5: 35,034,097 (GRCm39)	E1894D	probably damaging	Het
Kcnh8	G	A	17: 53,263,650 (GRCm39)	E716K	probably benign	Het
Kntc1	A	G	5: 123,937,874 (GRCm39)	Y1524C	probably damaging	Het
Krtap9-5	A	G	11: 99,839,931 (GRCm39)	T211A	unknown	Het
Lin54	T	C	5: 100,628,180 (GRCm39)	I8V	possibly damaging	Het
Lipe	A	G	7: 25,082,760 (GRCm39)		probably benign	Het
Lpin2	T	A	17: 71,545,678 (GRCm39)	V508E	probably damaging	Het
Lrrc9	C	A	12: 72,500,923 (GRCm39)	H216Q	probably damaging	Het
Lrrn1	T	C	6: 107,544,709 (GRCm39)	L169P	probably damaging	Het
Map9	C	A	3: 82,284,428 (GRCm39)	T334K	possibly damaging	Het
Msantd5f1	G	A	4: 73,605,602 (GRCm39)	A338T	probably damaging	Het
Mst1	A	T	9: 107,961,841 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,549,421 (GRCm39)	F602I	probably benign	Het
Naca	C	A	10: 127,883,551 (GRCm39)	Q2059K	probably damaging	Het
Nefh	G	A	11: 4,891,356 (GRCm39)	T421I	possibly damaging	Het
Nlrp4g	T	A	9: 124,348,940 (GRCm38)		noncoding transcript	Het
Npat	C	T	9: 53,482,341 (GRCm39)	Q1350*	probably null	Het
Oaz3	T	C	3: 94,342,287 (GRCm39)	N123S	probably benign	Het
Patj	A	G	4: 98,299,410 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,336,923 (GRCm39)	F280L	probably benign	Het
Piezo1	A	C	8: 123,210,258 (GRCm39)	D2224E	probably damaging	Het
Pnpla7	A	T	2: 24,905,241 (GRCm39)	I610F	possibly damaging	Het
Psapl1	A	T	5: 36,362,233 (GRCm39)	D275V	probably damaging	Het
Ptpdc1	T	A	13: 48,744,095 (GRCm39)		probably benign	Het
Rac2	T	C	15: 78,454,947 (GRCm39)	E31G	possibly damaging	Het
Sdhc	T	C	1: 170,971,124 (GRCm39)		probably benign	Het
Smim23	G	T	11: 32,770,667 (GRCm39)	P80T	probably damaging	Het
Snupn	C	T	9: 56,864,364 (GRCm39)	T21I	probably benign	Het
Tjp2	A	G	19: 24,073,996 (GRCm39)	V1097A	probably benign	Het
Ttc16	A	G	2: 32,661,939 (GRCm39)	Y164H	probably damaging	Het
Txlnb	A	G	10: 17,703,730 (GRCm39)	E296G	probably damaging	Het
Ube2l6	G	A	2: 84,633,195 (GRCm39)	V34M	probably damaging	Het
Vwf	A	C	6: 125,592,931 (GRCm39)	S764R	possibly damaging	Het
Zfand3	A	G	17: 30,411,611 (GRCm39)	S146G	probably benign	Het
Zfp280d	T	G	9: 72,203,307 (GRCm39)	F18L	probably benign	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
IGL03391:Mylpf	APN	7	126,812,349 (GRCm39)	missense	probably benign	0.11
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

2015-12-18