Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01068:Myl2'

51032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myl2

Ensembl Gene

ENSMUSG00000013936

Gene Name

myosin, light polypeptide 2, regulatory, cardiac, slow

Synonyms

MLC-2v, Mlc2v, MLC-2, Gm32672, Mylpc

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01068

Quality Score

Status

Chromosome

Chromosomal Location

122239014-122251535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122244767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 146 (V146I)

Ref Sequence

ENSEMBL: ENSMUSP00000107380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014080] [ENSMUST00000058960] [ENSMUST00000111750] [ENSMUST00000111751] [ENSMUST00000139213] [ENSMUST00000155612] [ENSMUST00000146733] [ENSMUST00000150535] [ENSMUST00000152389]

AlphaFold

P51667

Predicted Effect

probably benign
Transcript: ENSMUST00000014080
AA Change: V146I

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

SMART Domains

Protein: ENSMUSP00000014080
Gene: ENSMUSG00000013936
AA Change: V146I

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART
EFh	134	162	3.97e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000058960

SMART Domains

Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036

Domain	Start	End	E-Value	Type
coiled coil region	140	158	N/A	INTRINSIC
coiled coil region	209	285	N/A	INTRINSIC
low complexity region	308	318	N/A	INTRINSIC
coiled coil region	393	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111750

SMART Domains

Protein: ENSMUSP00000107379
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111751
AA Change: V146I

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

SMART Domains

Protein: ENSMUSP00000107380
Gene: ENSMUSG00000013936
AA Change: V146I

Domain	Start	End	E-Value	Type
EFh	28	56	2.81e-5	SMART
EFh	98	126	4.53e0	SMART
EFh	134	162	3.97e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123913

Predicted Effect

probably benign
Transcript: ENSMUST00000126006

SMART Domains

Protein: ENSMUSP00000123261
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
PDB:2W4H\|B	2	62	4e-8	PDB
SCOP:d1wdcb_	10	62	4e-5	SMART
Blast:EFh	37	62	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000139213

SMART Domains

Protein: ENSMUSP00000114156
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	6	54	7e-8	PFAM
Pfam:EF-hand_1	9	37	6.4e-8	PFAM
Pfam:EF-hand_6	9	40	6.2e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152744

Predicted Effect

probably benign
Transcript: ENSMUST00000155612

SMART Domains

Protein: ENSMUSP00000120105
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
EFh	9	37	2.81e-5	SMART
EFh	79	107	4.53e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146733

SMART Domains

Protein: ENSMUSP00000142592
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	6	54	1.2e-6	PFAM
Pfam:EF-hand_1	9	37	1.1e-6	PFAM
Pfam:EF-hand_6	9	40	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150535

SMART Domains

Protein: ENSMUSP00000120274
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	6	54	6.2e-8	PFAM
Pfam:EF-hand_1	9	37	5.8e-8	PFAM
Pfam:EF-hand_6	9	40	5.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153816

SMART Domains

Protein: ENSMUSP00000119627
Gene: ENSMUSG00000013936

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	62	90	2.4e-8	PFAM
Pfam:EF-hand_6	62	91	7.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152389

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a knock-in allele exhibit embryonic growth retardation and die between E12.5 and E14.5 with abnormal heart development characterized by a single ventricle, complete absence of the interventricular groove and septum, and a thin myocardium compact layer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,153,599 (GRCm39)		probably benign	Het
Adgra1	A	G	7: 139,425,541 (GRCm39)	E18G	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Atg16l1	C	T	1: 87,702,546 (GRCm39)	S269L	probably damaging	Het
Atp8a1	A	G	5: 67,824,680 (GRCm39)	V853A	probably benign	Het
Bicral	T	C	17: 47,136,317 (GRCm39)	I298V	probably damaging	Het
Cad	A	G	5: 31,219,114 (GRCm39)		probably benign	Het
Chd9	A	T	8: 91,768,744 (GRCm39)	Y2448F	probably benign	Het
Clstn3	A	G	6: 124,439,098 (GRCm39)	L16S	probably damaging	Het
Cmtr2	G	A	8: 110,949,501 (GRCm39)	V604M	possibly damaging	Het
Ctcf	A	T	8: 106,408,117 (GRCm39)		probably benign	Het
Eif2ak2	A	G	17: 79,172,800 (GRCm39)	I295T	probably damaging	Het
Foxm1	G	A	6: 128,347,930 (GRCm39)	R284H	possibly damaging	Het
Gabra2	T	C	5: 71,119,415 (GRCm39)	I362M	probably benign	Het
Hivep1	C	A	13: 42,313,460 (GRCm39)	P1900Q	probably benign	Het
Klhl25	G	T	7: 75,515,897 (GRCm39)	E268*	probably null	Het
Klk1b16	T	C	7: 43,790,102 (GRCm39)	L124P	probably damaging	Het
Ltf	A	T	9: 110,864,880 (GRCm39)		probably null	Het
Mpped2	T	A	2: 106,695,091 (GRCm39)	H248Q	probably damaging	Het
Mrpl1	T	A	5: 96,371,895 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,978,428 (GRCm39)	S429R	probably damaging	Het
Myo10	T	A	15: 25,739,395 (GRCm39)	I527N	possibly damaging	Het
Ncoa3	T	C	2: 165,894,715 (GRCm39)	S333P	probably damaging	Het
Or1j4	T	G	2: 36,740,282 (GRCm39)	S75A	probably damaging	Het
Or4k47	T	G	2: 111,451,685 (GRCm39)	T245P	probably damaging	Het
Oxct1	T	C	15: 4,083,246 (GRCm39)	F155S	probably damaging	Het
P4ha1	T	C	10: 59,175,157 (GRCm39)	V39A	probably damaging	Het
Padi6	G	T	4: 140,458,264 (GRCm39)	T514N	possibly damaging	Het
Pgm2	G	A	5: 64,265,139 (GRCm39)	V387I	probably damaging	Het
Ppt1	G	A	4: 122,737,800 (GRCm39)	C46Y	probably damaging	Het
Rnf225	T	C	7: 12,662,827 (GRCm39)		probably benign	Het
Rpl26	T	C	11: 68,793,224 (GRCm39)	Y42H	probably benign	Het
Rundc1	A	G	11: 101,324,968 (GRCm39)	N558S	probably damaging	Het
Sema3e	T	G	5: 14,283,732 (GRCm39)		probably null	Het
Slc8a1	T	C	17: 81,696,371 (GRCm39)	I888V	probably benign	Het
Thsd7b	T	C	1: 129,523,883 (GRCm39)	C306R	probably damaging	Het
Tmem209	A	C	6: 30,502,085 (GRCm39)	L197R	probably benign	Het
Tmem38b	T	G	4: 53,849,024 (GRCm39)	V119G	probably damaging	Het
Trpc1	T	C	9: 95,608,547 (GRCm39)	D82G	probably damaging	Het
Zfp292	A	G	4: 34,806,763 (GRCm39)	F2094L	probably damaging	Het
Zfp638	C	T	6: 83,911,976 (GRCm39)	R453W	probably damaging	Het

Other mutations in Myl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2879:Myl2	UTSW	5	122,242,748 (GRCm39)	critical splice donor site	probably null
R4580:Myl2	UTSW	5	122,244,801 (GRCm39)	missense	probably benign	0.37
R5569:Myl2	UTSW	5	122,244,783 (GRCm39)	missense	possibly damaging	0.95
R5782:Myl2	UTSW	5	122,242,933 (GRCm39)	missense	probably damaging	1.00
R6493:Myl2	UTSW	5	122,244,791 (GRCm39)	missense	possibly damaging	0.64
R6560:Myl2	UTSW	5	122,240,834 (GRCm39)	missense	probably null	1.00
R6878:Myl2	UTSW	5	122,243,140 (GRCm39)	missense	probably benign
R7163:Myl2	UTSW	5	122,239,885 (GRCm39)	missense	probably damaging	1.00
R7374:Myl2	UTSW	5	122,239,726 (GRCm39)	missense
R7951:Myl2	UTSW	5	122,244,750 (GRCm39)	missense	probably benign	0.00
R8682:Myl2	UTSW	5	122,244,798 (GRCm39)	missense	probably damaging	0.96
R9345:Myl2	UTSW	5	122,242,902 (GRCm39)	missense	probably damaging	0.99
R9501:Myl2	UTSW	5	122,241,921 (GRCm39)	missense	probably benign	0.04
R9681:Myl2	UTSW	5	122,240,783 (GRCm39)	nonsense	probably null

Posted On

2013-06-21