Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02225:Myl4'

285295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myl4

Ensembl Gene

ENSMUSG00000061086

Gene Name

myosin, light polypeptide 4

Synonyms

MLC1a, Myla, ELC1a, ELC

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL02225

Quality Score

Status

Chromosome

Chromosomal Location

104441489-104486579 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104471228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 42 (I42V)

Ref Sequence

ENSEMBL: ENSMUSP00000114345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018800] [ENSMUST00000106956] [ENSMUST00000106957] [ENSMUST00000130588] [ENSMUST00000153761]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018800
AA Change: I42V

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

SMART Domains

Protein: ENSMUSP00000018800
Gene: ENSMUSG00000061086
AA Change: I42V

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
Pfam:EF-hand_6	51	82	7.8e-5	PFAM
internal_repeat_1	129	187	1.4e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000106956
AA Change: I42V

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

SMART Domains

Protein: ENSMUSP00000102569
Gene: ENSMUSG00000061086
AA Change: I42V

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
Pfam:EF-hand_6	51	82	7.8e-5	PFAM
internal_repeat_1	129	187	1.4e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000106957
AA Change: I42V

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

SMART Domains

Protein: ENSMUSP00000102570
Gene: ENSMUSG00000061086
AA Change: I42V

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
internal_repeat_1	50	113	1.4e-5	PROSPERO
internal_repeat_1	129	187	1.4e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123074

Predicted Effect

unknown
Transcript: ENSMUST00000130588
AA Change: I42V

SMART Domains

Protein: ENSMUSP00000122748
Gene: ENSMUSG00000061086
AA Change: I42V

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136244

Predicted Effect

probably benign
Transcript: ENSMUST00000153761
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114345
Gene: ENSMUSG00000061086
AA Change: I42V

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
Pfam:EF-hand_6	51	82	1.3e-4	PFAM
internal_repeat_1	129	187	1.33e-5	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155271

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 43,906,165 (GRCm39)		probably null	Het
Adgrf4	C	A	17: 42,974,269 (GRCm39)		probably null	Het
Aqp9	A	T	9: 71,037,829 (GRCm39)		probably benign	Het
C1s1	A	G	6: 124,518,293 (GRCm39)	W8R	probably benign	Het
Cep43	T	G	17: 8,401,251 (GRCm39)	D257E	probably damaging	Het
Cfap43	A	G	19: 47,800,616 (GRCm39)	I345T	probably benign	Het
Cwh43	T	C	5: 73,578,910 (GRCm39)	Y306H	probably damaging	Het
Cyp4a32	A	T	4: 115,467,700 (GRCm39)	H228L	probably benign	Het
Ddx24	A	G	12: 103,383,630 (GRCm39)	L607P	probably damaging	Het
Dlg3	A	G	X: 99,850,794 (GRCm39)	K232R	probably benign	Het
Fig4	A	G	10: 41,132,448 (GRCm39)	S453P	probably benign	Het
Frem1	A	G	4: 82,858,743 (GRCm39)	L1556P	probably damaging	Het
Gjb2	T	C	14: 57,337,645 (GRCm39)	K188E	probably damaging	Het
Gp1bb	C	A	16: 18,439,650 (GRCm39)	W148L	possibly damaging	Het
Grip1	C	T	10: 119,885,358 (GRCm39)	T375M	probably damaging	Het
Hnf1b	T	C	11: 83,752,611 (GRCm39)	L82P	probably damaging	Het
Jakmip1	T	C	5: 37,262,200 (GRCm39)	V333A	probably damaging	Het
Magi1	G	T	6: 93,671,007 (GRCm39)	R1069S	probably damaging	Het
Myh15	A	T	16: 48,911,526 (GRCm39)	E319D	probably benign	Het
Obsl1	A	T	1: 75,480,442 (GRCm39)	V394E	probably damaging	Het
Or1e1c	T	A	11: 73,265,904 (GRCm39)	F110I	probably damaging	Het
Or52ab7	A	T	7: 102,978,373 (GRCm39)	I227F	probably damaging	Het
Or5w14	C	T	2: 87,541,743 (GRCm39)	C169Y	possibly damaging	Het
Pcnt	C	T	10: 76,225,308 (GRCm39)	R1732K	probably benign	Het
Pkd1l3	T	C	8: 110,365,310 (GRCm39)	Y1144H	probably damaging	Het
Pogz	A	G	3: 94,786,327 (GRCm39)	K972E	probably damaging	Het
Sccpdh	A	G	1: 179,507,264 (GRCm39)	T227A	probably benign	Het
Sec16b	A	G	1: 157,359,614 (GRCm39)		probably benign	Het
Slain2	T	A	5: 73,098,733 (GRCm39)	V163E	probably damaging	Het
Snx1	G	A	9: 66,016,903 (GRCm39)	P56L	probably benign	Het
Snx14	G	A	9: 88,295,577 (GRCm39)	T196I	probably damaging	Het
Sspo	T	C	6: 48,461,268 (GRCm39)	F3570L	probably benign	Het
Tbrg4	C	A	11: 6,574,094 (GRCm39)	V43F	probably damaging	Het
Traf3ip3	A	G	1: 192,877,408 (GRCm39)	I176T	probably benign	Het
Trbv20	T	A	6: 41,165,241 (GRCm39)		probably benign	Het
Ubc	A	T	5: 125,463,197 (GRCm39)	V710D	probably benign	Het
Ugt2b35	T	C	5: 87,155,264 (GRCm39)		probably benign	Het
Zbed5	C	T	5: 129,930,974 (GRCm39)		probably null	Het
Zc3hav1	T	C	6: 38,317,276 (GRCm39)	Y108C	probably damaging	Het

Other mutations in Myl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Myl4	APN	11	104,468,279 (GRCm39)	start codon destroyed	probably null
R5820:Myl4	UTSW	11	104,474,806 (GRCm39)	missense	probably damaging	1.00
R7804:Myl4	UTSW	11	104,475,787 (GRCm39)	missense	probably damaging	1.00
R8559:Myl4	UTSW	11	104,474,930 (GRCm39)	missense	possibly damaging	0.95
R8803:Myl4	UTSW	11	104,475,403 (GRCm39)	missense	probably damaging	1.00
R8926:Myl4	UTSW	11	104,476,572 (GRCm39)	missense	probably benign	0.03
R9005:Myl4	UTSW	11	104,468,384 (GRCm39)	missense	probably damaging	0.99
R9407:Myl4	UTSW	11	104,474,887 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16