Mutagenetix > Incidental Mutation

Incidental Mutation 'R3406:Myl12a'

259408

Institutional Source

Beutler Lab

Gene Symbol

Myl12a

Ensembl Gene

ENSMUSG00000024048

Gene Name

myosin, light chain 12A, regulatory, non-sarcomeric

Synonyms

NMDA receptor-interacting protein, brain specific myosin regulatory light chain, 2900073G15Rik

MMRRC Submission

040624-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R3406 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71300788-71309528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71301737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 130 (M130K)

Ref Sequence

ENSEMBL: ENSMUSP00000123412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024846] [ENSMUST00000038446] [ENSMUST00000123686] [ENSMUST00000128179] [ENSMUST00000148960] [ENSMUST00000150456]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024846
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: M130K

Domain	Start	End	E-Value	Type
low complexity region	7	13	N/A	INTRINSIC
EFh	33	61	2.52e-7	SMART
EFh	102	130	6.95e0	SMART
Blast:EFh	138	166	6e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000038446

SMART Domains

Protein: ENSMUSP00000042364
Gene: ENSMUSG00000034868

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
EFh	33	61	1.26e-7	SMART
EFh	102	130	1.25e0	SMART
Blast:EFh	138	166	6e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123686
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: M130K

Domain	Start	End	E-Value	Type
low complexity region	7	13	N/A	INTRINSIC
EFh	33	61	2.52e-7	SMART
EFh	102	130	6.95e0	SMART
Blast:EFh	138	166	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126529

Predicted Effect

probably benign
Transcript: ENSMUST00000128179

SMART Domains

Protein: ENSMUSP00000119491
Gene: ENSMUSG00000024048

Domain	Start	End	E-Value	Type
low complexity region	7	13	N/A	INTRINSIC
Pfam:EF-hand_1	33	58	7.7e-9	PFAM
Pfam:EF-hand_6	33	58	7.4e-9	PFAM
Pfam:EF-hand_5	34	58	1.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131820

Predicted Effect

probably benign
Transcript: ENSMUST00000148960
AA Change: M130K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: M130K

Domain	Start	End	E-Value	Type
low complexity region	7	13	N/A	INTRINSIC
EFh	33	61	2.52e-7	SMART
EFh	102	130	6.95e0	SMART
Blast:EFh	138	166	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180743

Predicted Effect

probably benign
Transcript: ENSMUST00000150456

SMART Domains

Protein: ENSMUSP00000114712
Gene: ENSMUSG00000024048

Domain	Start	End	E-Value	Type
Pfam:EF-hand_7	13	78	1.2e-8	PFAM
Pfam:EF-hand_1	33	61	1.7e-9	PFAM
Pfam:EF-hand_6	33	62	1.8e-9	PFAM

Meta Mutation Damage Score

0.2933

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,859,338 (GRCm39)	M1K	probably null	Het
Adam34l	A	T	8: 44,079,089 (GRCm39)	C378*	probably null	Het
Bdkrb2	T	C	12: 105,558,755 (GRCm39)	V332A	possibly damaging	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Chd4	C	A	6: 125,098,970 (GRCm39)	T1586K	probably benign	Het
Cnga3	A	G	1: 37,301,146 (GRCm39)	E622G	probably benign	Het
Dbh	A	G	2: 27,064,977 (GRCm39)	D396G	possibly damaging	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Esp4	T	A	17: 40,913,336 (GRCm39)	L68M	possibly damaging	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fbxo38	T	C	18: 62,647,914 (GRCm39)	T875A	probably damaging	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Hemk1	G	A	9: 107,214,415 (GRCm39)	Q6*	probably null	Het
Hmcn2	C	T	2: 31,323,284 (GRCm39)		probably benign	Het
Hook2	A	G	8: 85,720,613 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,525,555 (GRCm39)	S507P	unknown	Het
Kazn	C	A	4: 141,966,506 (GRCm39)		probably benign	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Lyst	T	A	13: 13,809,815 (GRCm39)	M495K	possibly damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncdn	C	T	4: 126,642,388 (GRCm39)	R423Q	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nek8	G	T	11: 78,061,572 (GRCm39)	S319*	probably null	Het
Or11g7	G	A	14: 50,690,653 (GRCm39)	C48Y	probably benign	Het
Or52m2	T	C	7: 102,263,993 (GRCm39)	M68V	possibly damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Pcdhb15	C	A	18: 37,608,442 (GRCm39)	A558E	probably benign	Het
Plrg1	T	A	3: 82,978,526 (GRCm39)	W431R	probably damaging	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Rpgrip1	G	A	14: 52,382,666 (GRCm39)	D600N	possibly damaging	Het
Siah3	A	G	14: 75,763,421 (GRCm39)	D224G	probably damaging	Het
Slc22a6	T	C	19: 8,598,675 (GRCm39)	L244P	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Tbck	T	A	3: 132,432,845 (GRCm39)	N418K	probably benign	Het
Tcp11x2	T	C	X: 134,555,733 (GRCm39)	N474S	probably damaging	Het
Tenm3	A	C	8: 48,681,590 (GRCm39)	V2680G	probably damaging	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Tlr6	C	T	5: 65,110,772 (GRCm39)	V712M	probably damaging	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Znrf2	A	T	6: 54,861,776 (GRCm39)	N229I	probably damaging	Het

Other mutations in Myl12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Myl12a	APN	17	71,303,848 (GRCm39)	missense	probably benign	0.00
IGL01949:Myl12a	APN	17	71,303,709 (GRCm39)	missense	probably benign	0.18
IGL02136:Myl12a	APN	17	71,303,851 (GRCm39)	nonsense	probably null
R3405:Myl12a	UTSW	17	71,301,737 (GRCm39)	missense	probably benign	0.00
R3777:Myl12a	UTSW	17	71,301,631 (GRCm39)	missense	possibly damaging	0.93
R3779:Myl12a	UTSW	17	71,301,631 (GRCm39)	missense	possibly damaging	0.93
R4757:Myl12a	UTSW	17	71,303,798 (GRCm39)	missense	possibly damaging	0.86
R4798:Myl12a	UTSW	17	71,303,297 (GRCm39)	intron	probably benign
R5086:Myl12a	UTSW	17	71,301,611 (GRCm39)	missense	possibly damaging	0.70
R5419:Myl12a	UTSW	17	71,301,694 (GRCm39)	missense	probably benign	0.03
R7838:Myl12a	UTSW	17	71,303,166 (GRCm39)	missense	probably benign	0.02
R8390:Myl12a	UTSW	17	71,303,231 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATACCCCAATGGCAACGGG -3'
(R):5'- AGGCACCTGTTGTATTGGC -3'

Sequencing Primer
(F):5'- CCAATGGCAACGGGAGCAATG -3'
(R):5'- CTTGTGCTGATGAGCCACG -3'

Posted On

2015-01-23