Mutagenetix > Incidental Mutation

Incidental Mutation 'R4449:Myl7'

328892

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

041710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4449 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

5846637-5848782 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5847354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 115 (D115N)

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 damaging
Transcript: ENSMUST00000102921
AA Change: D115N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: D115N

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

Meta Mutation Damage Score

0.6857

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (47/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	A	T	15: 83,218,759 (GRCm39)	Y105N	probably damaging	Het
Arid3b	T	A	9: 57,705,404 (GRCm39)	K266*	probably null	Het
Bend3	A	G	10: 43,388,079 (GRCm39)	E824G	possibly damaging	Het
Bpifb6	A	G	2: 153,748,688 (GRCm39)	E228G	possibly damaging	Het
Cadm1	T	A	9: 47,725,286 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,441,735 (GRCm39)	A22V	possibly damaging	Het
Cntrob	C	A	11: 69,196,375 (GRCm39)	D687Y	probably benign	Het
Dap3	A	T	3: 88,857,185 (GRCm39)		probably benign	Het
Ddc	T	C	11: 11,785,802 (GRCm39)	D295G	probably damaging	Het
Fut10	T	A	8: 31,726,285 (GRCm39)	Y347N	probably damaging	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Helz	T	C	11: 107,494,989 (GRCm39)	V321A	probably benign	Het
Hnrnpul1	T	C	7: 25,421,709 (GRCm39)		probably benign	Het
Hsdl2	T	A	4: 59,617,692 (GRCm39)	I353K	possibly damaging	Het
Igkv3-2	G	A	6: 70,675,825 (GRCm39)	A45T	probably benign	Het
Kcnh6	A	G	11: 105,909,762 (GRCm39)	Y429C	probably damaging	Het
Luzp1	T	A	4: 136,268,174 (GRCm39)	N132K	probably damaging	Het
Mlycd	T	A	8: 120,137,144 (GRCm39)	Y455N	probably damaging	Het
Or52s1	A	T	7: 102,861,687 (GRCm39)	I196F	probably benign	Het
Pcdh7	A	G	5: 57,877,827 (GRCm39)	T461A	probably damaging	Het
Pi4kb	C	T	3: 94,892,046 (GRCm39)	S254L	probably benign	Het
Pitpnc1	A	G	11: 107,107,535 (GRCm39)	V257A	probably benign	Het
Prpf40b	A	G	15: 99,212,544 (GRCm39)	D596G	probably damaging	Het
Rngtt	T	C	4: 33,330,865 (GRCm39)	F156S	probably damaging	Het
Sema3c	A	G	5: 17,781,844 (GRCm39)		probably benign	Het
Shisa6	T	C	11: 66,416,244 (GRCm39)	T183A	probably benign	Het
Skint3	T	A	4: 112,127,206 (GRCm39)	V287E	possibly damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,040,715 (GRCm39)	S392C	probably damaging	Het
Snx14	T	C	9: 88,305,052 (GRCm39)	I81V	probably benign	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Trappc12	A	T	12: 28,797,234 (GRCm39)	D99E	probably benign	Het
Trim34b	T	C	7: 103,984,935 (GRCm39)	C318R	probably benign	Het
Ttc39a	T	C	4: 109,299,500 (GRCm39)	I449T	possibly damaging	Het
Twsg1	A	C	17: 66,233,305 (GRCm39)	V215G	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ubr1	A	G	2: 120,776,862 (GRCm39)	V293A	possibly damaging	Het
Unk	G	A	11: 115,944,460 (GRCm39)	G404S	probably damaging	Het
Virma	T	C	4: 11,498,828 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,876,939 (GRCm39)	V2864A	possibly damaging	Het
Wdfy4	T	A	14: 32,818,040 (GRCm39)	R1492W	probably damaging	Het
Zcchc3	G	C	2: 152,256,642 (GRCm39)	P19R	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
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
R7862:Myl7	UTSW	11	5,847,157 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGCTTGAACCTGAGGAG -3'
(R):5'- CAACCCCTTTGATGCCCAAG -3'

Sequencing Primer
(F):5'- CTTGAACCTGAGGAGAGAGAATGCC -3'
(R):5'- TTTGATGCCCAAGAAACACTCTG -3'

Posted On

2015-07-21