Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Mylk4'

567060

Institutional Source

Beutler Lab

Gene Symbol

Mylk4

Ensembl Gene

ENSMUSG00000044951

Gene Name

myosin light chain kinase family, member 4

Synonyms

EG238564

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32884810-32967937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32904548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 195 (D195E)

Ref Sequence

ENSEMBL: ENSMUSP00000060149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057428] [ENSMUST00000230119]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057428
AA Change: D195E

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: D195E

Domain	Start	End	E-Value	Type
S_TKc	107	362	4.2e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230119
AA Change: D426E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Sbsn	T	C	7: 30,451,309 (GRCm39)	F108S	probably benign	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	Het

Other mutations in Mylk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Mylk4	APN	13	32,899,905 (GRCm39)	missense	probably damaging	1.00
IGL01799:Mylk4	APN	13	32,965,674 (GRCm39)	missense	probably benign	0.00
IGL01985:Mylk4	APN	13	32,901,564 (GRCm39)	missense	possibly damaging	0.81
IGL02105:Mylk4	APN	13	32,904,545 (GRCm39)	missense	probably benign	0.17
IGL02270:Mylk4	APN	13	32,913,049 (GRCm39)	splice site	probably benign
IGL02377:Mylk4	APN	13	32,906,130 (GRCm39)	missense	possibly damaging	0.69
IGL03142:Mylk4	APN	13	32,904,582 (GRCm39)	missense	probably damaging	1.00
R0550:Mylk4	UTSW	13	32,900,649 (GRCm39)	missense	probably benign	0.00
R0599:Mylk4	UTSW	13	32,896,737 (GRCm39)	splice site	probably null
R1070:Mylk4	UTSW	13	32,908,801 (GRCm39)	missense	probably benign	0.05
R1520:Mylk4	UTSW	13	32,896,821 (GRCm39)	splice site	probably null
R1658:Mylk4	UTSW	13	32,896,772 (GRCm39)	missense	possibly damaging	0.77
R1917:Mylk4	UTSW	13	32,908,836 (GRCm39)	missense	probably benign	0.00
R1918:Mylk4	UTSW	13	32,908,836 (GRCm39)	missense	probably benign	0.00
R1919:Mylk4	UTSW	13	32,908,836 (GRCm39)	missense	probably benign	0.00
R2187:Mylk4	UTSW	13	32,905,996 (GRCm39)	missense	probably damaging	0.97
R2568:Mylk4	UTSW	13	32,906,001 (GRCm39)	missense	probably null	0.97
R4832:Mylk4	UTSW	13	32,905,960 (GRCm39)	missense	probably benign	0.04
R5268:Mylk4	UTSW	13	32,892,864 (GRCm39)	splice site	probably null
R6801:Mylk4	UTSW	13	32,912,393 (GRCm39)	missense	probably benign	0.07
R6894:Mylk4	UTSW	13	32,905,998 (GRCm39)	missense	probably damaging	1.00
R7329:Mylk4	UTSW	13	32,900,766 (GRCm39)	missense	probably damaging	1.00
R7634:Mylk4	UTSW	13	32,892,891 (GRCm39)	missense	possibly damaging	0.88
R7702:Mylk4	UTSW	13	32,904,585 (GRCm39)	critical splice acceptor site	probably null
R7944:Mylk4	UTSW	13	32,911,096 (GRCm39)	missense	probably benign	0.02
R8256:Mylk4	UTSW	13	32,904,522 (GRCm39)	missense	probably damaging	1.00
R8777:Mylk4	UTSW	13	32,913,089 (GRCm39)	missense	probably benign	0.00
R8777-TAIL:Mylk4	UTSW	13	32,913,089 (GRCm39)	missense	probably benign	0.00
R9367:Mylk4	UTSW	13	32,960,236 (GRCm39)	missense	possibly damaging	0.66
R9509:Mylk4	UTSW	13	32,904,543 (GRCm39)	missense	probably benign	0.07
R9794:Mylk4	UTSW	13	32,899,950 (GRCm39)	missense	probably damaging	1.00
R9796:Mylk4	UTSW	13	32,900,643 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTACATCATATTTCACAGGTCCCC -3'
(R):5'- GGAAATAACTGTGCACGTGTG -3'

Sequencing Primer
(F):5'- CCCCAACAGTGTGACAGAGG -3'
(R):5'- GCATGGGCACGCACACAC -3'

Posted On

2019-06-26