Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Mylk4'

237891

Institutional Source

Beutler Lab

Gene Symbol

Mylk4

Ensembl Gene

ENSMUSG00000044951

Gene Name

myosin light chain kinase family, member 4

Synonyms

EG238564

MMRRC Submission

040189-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32700834-32783954 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32722013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 165 (I165V)

Ref Sequence

ENSEMBL: ENSMUSP00000060149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057428
AA Change: I165V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: I165V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134352
AA Change: I165V

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116013
Gene: ENSMUSG00000044951
AA Change: I165V

Domain	Start	End	E-Value	Type
S_TKc	107	361	1.01e-83	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230119
AA Change: I396V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	A	G	3: 92,868,615	S254P	probably damaging	Het
Abcg1	T	A	17: 31,105,517	S245R	probably damaging	Het
AI597479	T	A	1: 43,100,823	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,383,505	S575G	probably benign	Het
Bfsp2	T	A	9: 103,426,777	K343*	probably null	Het
Cant1	A	T	11: 118,408,841	Y227*	probably null	Het
Cd2bp2	T	C	7: 127,194,791	N109D	probably benign	Het
Chmp6	A	G	11: 119,916,736	E135G	possibly damaging	Het
Dsp	T	G	13: 38,176,407	S329R	probably damaging	Het
Epha5	A	T	5: 84,086,364	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648	T566S	possibly damaging	Het
Erap1	A	T	13: 74,662,405	I288F	probably damaging	Het
Erich6	A	G	3: 58,629,845		probably null	Het
Fbxo10	A	G	4: 45,058,531	V402A	probably benign	Het
Fndc1	T	A	17: 7,741,772	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,899,855	Q327P	probably damaging	Het
Fxn	T	A	19: 24,280,489	N26I	probably benign	Het
Hsf5	G	T	11: 87,638,184	G582C	possibly damaging	Het
Itga8	A	G	2: 12,194,420	V522A	possibly damaging	Het
Lyst	C	T	13: 13,709,341	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,654,933	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 47,235,049	F290S	probably damaging	Het
Mst1	T	C	9: 108,084,340	Y599H	possibly damaging	Het
Nipsnap2	T	C	5: 129,746,473		probably null	Het
Nol8	T	C	13: 49,661,999	Y528H	probably benign	Het
Nup93	T	A	8: 94,300,850	S295R	probably damaging	Het
Nutm2	A	T	13: 50,467,417	Q6L	probably benign	Het
Olfr11	A	T	13: 21,639,385	I46N	probably damaging	Het
Olfr1445	T	A	19: 12,884,255	C125S	probably damaging	Het
Olfr820	A	G	10: 130,017,688	E109G	probably damaging	Het
Olfr988	T	G	2: 85,353,915	S4R	probably benign	Het
Pip5k1a	A	T	3: 95,071,918	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,549,274	R574C	probably damaging	Het
Ppp2cb	A	G	8: 33,610,677	E42G	possibly damaging	Het
Prkd3	T	A	17: 78,975,554	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,863,228	R1023*	probably null	Het
Ptpra	A	G	2: 130,504,299	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,753,992		probably benign	Het
Rasgrf1	T	C	9: 89,994,835	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,325,957	K697R	probably damaging	Het
Rhoa	C	T	9: 108,335,153	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,916,895	S370G	probably null	Het
Sdk1	C	T	5: 142,114,574	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,230,873	L614S	probably damaging	Het
Slc6a20b	T	A	9: 123,598,588	I419F	probably damaging	Het
Slc8a1	C	T	17: 81,648,553	S352N	possibly damaging	Het
Spta1	A	G	1: 174,192,966	D547G	probably damaging	Het
Tc2n	G	A	12: 101,706,544	T46I	probably damaging	Het
Terb1	T	A	8: 104,472,884	Y476F	probably benign	Het
Trim12a	T	A	7: 104,304,192	E237D	probably damaging	Het
Usp47	T	C	7: 112,067,191	L309P	probably damaging	Het

Other mutations in Mylk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Mylk4	APN	13	32715922	missense	probably damaging	1.00
IGL01799:Mylk4	APN	13	32781691	missense	probably benign	0.00
IGL01985:Mylk4	APN	13	32717581	missense	possibly damaging	0.81
IGL02105:Mylk4	APN	13	32720562	missense	probably benign	0.17
IGL02270:Mylk4	APN	13	32729066	splice site	probably benign
IGL02377:Mylk4	APN	13	32722147	missense	possibly damaging	0.69
IGL03142:Mylk4	APN	13	32720599	missense	probably damaging	1.00
R0550:Mylk4	UTSW	13	32716666	missense	probably benign	0.00
R0599:Mylk4	UTSW	13	32712754	splice site	probably null
R1070:Mylk4	UTSW	13	32724818	missense	probably benign	0.05
R1520:Mylk4	UTSW	13	32712838	splice site	probably null
R1658:Mylk4	UTSW	13	32712789	missense	possibly damaging	0.77
R1917:Mylk4	UTSW	13	32724853	missense	probably benign	0.00
R1918:Mylk4	UTSW	13	32724853	missense	probably benign	0.00
R1919:Mylk4	UTSW	13	32724853	missense	probably benign	0.00
R2568:Mylk4	UTSW	13	32722018	missense	probably null	0.97
R4832:Mylk4	UTSW	13	32721977	missense	probably benign	0.04
R5268:Mylk4	UTSW	13	32708881	splice site	probably null
R6801:Mylk4	UTSW	13	32728410	missense	probably benign	0.07
R6894:Mylk4	UTSW	13	32722015	missense	probably damaging	1.00
R7302:Mylk4	UTSW	13	32720565	missense	probably benign	0.39
R7329:Mylk4	UTSW	13	32716783	missense	probably damaging	1.00
R7634:Mylk4	UTSW	13	32708908	missense	possibly damaging	0.88
R7702:Mylk4	UTSW	13	32720602	critical splice acceptor site	probably null
R7944:Mylk4	UTSW	13	32727113	missense	probably benign	0.02
R8256:Mylk4	UTSW	13	32720539	missense	probably damaging	1.00
R8777:Mylk4	UTSW	13	32729106	missense	probably benign	0.00
R8777-TAIL:Mylk4	UTSW	13	32729106	missense	probably benign	0.00
R9367:Mylk4	UTSW	13	32776253	missense	possibly damaging	0.66
R9509:Mylk4	UTSW	13	32720560	missense	probably benign	0.07
R9794:Mylk4	UTSW	13	32715967	missense	probably damaging	1.00
R9796:Mylk4	UTSW	13	32716660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGACCCTGGCAAGATCC -3'
(R):5'- AACTGTCTCTTCTTTGGCAGGG -3'

Sequencing Primer
(F):5'- TGGCAAGATCCCATGTCTCTGG -3'
(R):5'- AACAGGCCTGAAGCTGGC -3'

Posted On

2014-10-02