Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Myl7'

607586

Institutional Source

Beutler Lab

Gene Symbol

Myl7

Ensembl Gene

ENSMUSG00000020469

Gene Name

myosin, light polypeptide 7, regulatory

Synonyms

MLC2a, RLC-A, Mylc2a, MLC-2alpha

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5846637-5848782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5847157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 132 (M132T)

Ref Sequence

ENSEMBL: ENSMUSP00000099985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102920] [ENSMUST00000102921] [ENSMUST00000109822] [ENSMUST00000109823]

AlphaFold

Q9QVP4

Predicted Effect

probably benign
Transcript: ENSMUST00000102920

SMART Domains

Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	10	217	4.3e-80	PFAM
Pfam:Hexokinase_2	219	458	1.3e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102921
AA Change: M132T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: M132T

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
EFh	36	64	1.02e-2	SMART
EFh	106	134	8.25e-3	SMART
Blast:EFh	142	170	9e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109822

SMART Domains

Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	10	217	1e-79	PFAM
Pfam:Hexokinase_2	219	458	7.8e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109823

SMART Domains

Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	15	216	1.9e-74	PFAM
Pfam:Hexokinase_2	221	455	2.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125434

SMART Domains

Protein: ENSMUSP00000123016
Gene: ENSMUSG00000041798

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
Pfam:Hexokinase_2	45	87	1.1e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a knock-in allele show lack of atrial myofibrillar organization, atrial malfunction, aberrant cardiac chamber and looping morphogenesis, defects in yolk sac and intraembryonic vasculature, growth arrest, pericardial edema, and death at E10.5-E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fh1	A	T	1: 175,442,400 (GRCm39)	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fkbp5	C	T	17: 28,631,013 (GRCm39)	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Glud1	T	G	14: 34,047,479 (GRCm39)	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Or8b3b	C	T	9: 38,584,624 (GRCm39)	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Stk3	A	G	15: 35,115,732 (GRCm39)	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	probably benign	Het

Other mutations in Myl7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02957:Myl7	APN	11	5,847,137 (GRCm39)	missense	possibly damaging	0.84
IGL03199:Myl7	APN	11	5,848,205 (GRCm39)	missense	probably damaging	1.00
R2370:Myl7	UTSW	11	5,846,684 (GRCm39)	missense	probably damaging	0.96
R3902:Myl7	UTSW	11	5,848,431 (GRCm39)	missense	probably damaging	0.99
R3902:Myl7	UTSW	11	5,848,430 (GRCm39)	missense	probably damaging	1.00
R4449:Myl7	UTSW	11	5,847,354 (GRCm39)	missense	probably damaging	1.00
R4766:Myl7	UTSW	11	5,848,171 (GRCm39)	missense	probably benign	0.00
R5293:Myl7	UTSW	11	5,848,521 (GRCm39)	unclassified	probably benign
R7666:Myl7	UTSW	11	5,847,140 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCTTTTGGGTTTTAACAGAGCC -3'
(R):5'- AAGCCATCCTGAGTGCCTTC -3'

Sequencing Primer
(F):5'- CAGAGCCTATATCTCTTCTCAGAAG -3'
(R):5'- TCCGCATGTTCGACCCCAG -3'

Posted On

2019-12-20