Mutagenetix > Incidental Mutation

Incidental Mutation 'R5086:Myl12a'

387480

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

042675-MU

Accession Numbers

Essential gene?

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

Stock #

R5086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71300788-71309528 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71301611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 172 (D172G)

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

possibly damaging
Transcript: ENSMUST00000024846
AA Change: D172G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024846
Gene: ENSMUSG00000024048
AA Change: D172G

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

possibly damaging
Transcript: ENSMUST00000123686
AA Change: D172G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116398
Gene: ENSMUSG00000024048
AA Change: D172G

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

possibly damaging
Transcript: ENSMUST00000148960
AA Change: D172G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123412
Gene: ENSMUSG00000024048
AA Change: D172G

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

0.3631

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.3%

Validation Efficiency

99% (80/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adsl	T	A	15: 80,847,901 (GRCm39)	M278K	probably damaging	Het
Ago1	T	C	4: 126,347,397 (GRCm39)	I147V	probably benign	Het
Ank1	T	C	8: 23,578,634 (GRCm39)	L261P	probably damaging	Het
Ank2	T	C	3: 126,740,997 (GRCm39)		probably benign	Het
Ap1b1	T	C	11: 4,968,020 (GRCm39)	V177A	possibly damaging	Het
Arhgap21	A	G	2: 20,853,645 (GRCm39)	S1906P	probably benign	Het
Asb1	A	G	1: 91,482,533 (GRCm39)	Y214C	probably benign	Het
BC049715	C	T	6: 136,817,429 (GRCm39)	T223M	probably damaging	Het
C1ra	T	A	6: 124,496,688 (GRCm39)	C375S	probably damaging	Het
Cdh26	C	T	2: 178,083,210 (GRCm39)	R26*	probably null	Het
Chordc1	A	G	9: 18,224,131 (GRCm39)	M304V	probably benign	Het
Cpne8	T	C	15: 90,532,771 (GRCm39)		probably benign	Het
Cracd	A	G	5: 77,004,971 (GRCm39)	E444G	unknown	Het
Csf1	T	C	3: 107,656,026 (GRCm39)	E335G	possibly damaging	Het
Ctnnd2	C	T	15: 30,683,493 (GRCm39)	P498L	possibly damaging	Het
Cyp4f18	C	T	8: 72,756,276 (GRCm39)	R100H	probably benign	Het
Dnaaf2	G	A	12: 69,244,060 (GRCm39)	R334C	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,529,189 (GRCm39)	S1071P	possibly damaging	Het
Dtnb	T	C	12: 3,682,942 (GRCm39)	V7A	probably benign	Het
Eif1	T	C	11: 100,211,552 (GRCm39)	I62T	probably damaging	Het
Fbxo44	T	A	4: 148,240,669 (GRCm39)	T145S	probably benign	Het
G530012D18Rik	G	C	1: 85,504,941 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,724,342 (GRCm39)	M17K	probably damaging	Het
Gm5860	T	A	4: 81,984,173 (GRCm39)		noncoding transcript	Het
Gm7964	T	A	7: 83,406,560 (GRCm39)	F439Y	possibly damaging	Het
Gpbp1l1	C	A	4: 116,445,789 (GRCm39)	T297N	probably benign	Het
Greb1	C	T	12: 16,758,023 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,197,234 (GRCm39)		noncoding transcript	Het
Hkdc1	T	C	10: 62,231,053 (GRCm39)		probably benign	Het
Ighv16-1	T	A	12: 114,032,510 (GRCm39)	L97F	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Inpp5d	A	G	1: 87,633,686 (GRCm39)	H441R	probably damaging	Het
Iqgap2	G	T	13: 95,772,088 (GRCm39)	R1364S	probably benign	Het
Krtap20-2	G	T	16: 89,002,806 (GRCm39)	C2F	unknown	Het
Man2c1	T	A	9: 57,038,924 (GRCm39)	D111E	probably damaging	Het
Map1a	G	A	2: 121,134,985 (GRCm39)	E1696K	probably damaging	Het
Mdc1	T	A	17: 36,159,522 (GRCm39)	V634E	probably benign	Het
Mgam2-ps	A	G	6: 40,800,547 (GRCm39)		noncoding transcript	Het
Mllt3	T	A	4: 87,707,535 (GRCm39)	N68Y	probably damaging	Het
Mrps18a	T	A	17: 46,436,621 (GRCm39)	D143E	probably benign	Het
Notch3	T	C	17: 32,362,308 (GRCm39)	N1439S	probably benign	Het
Npepps	T	C	11: 97,108,625 (GRCm39)	M764V	probably benign	Het
Or8d2b	T	C	9: 38,789,087 (GRCm39)	L205P	probably damaging	Het
Paxbp1	A	T	16: 90,812,104 (GRCm39)		probably benign	Het
Pcdhb7	A	T	18: 37,476,162 (GRCm39)	T433S	possibly damaging	Het
Pcdhb8	A	T	18: 37,489,159 (GRCm39)	Y279F	probably damaging	Het
Pim3	T	C	15: 88,748,606 (GRCm39)	L235P	probably damaging	Het
Plekha4	C	T	7: 45,203,082 (GRCm39)	S685F	possibly damaging	Het
Plekhg1	C	A	10: 3,853,649 (GRCm39)	H167Q	probably damaging	Het
Plekhn1	G	C	4: 156,306,881 (GRCm39)	P503A	probably benign	Het
Sar1a	T	C	10: 61,527,125 (GRCm39)	L181P	probably damaging	Het
Sec22a	G	T	16: 35,168,112 (GRCm39)	S133*	probably null	Het
Sipa1l3	G	A	7: 29,048,000 (GRCm39)	S247F	probably damaging	Het
Slc31a1	T	C	4: 62,306,190 (GRCm39)	S103P	probably damaging	Het
Spag6	A	C	2: 18,747,688 (GRCm39)		probably benign	Het
Stab1	T	A	14: 30,865,581 (GRCm39)	D1769V	probably damaging	Het
Stab1	G	A	14: 30,881,261 (GRCm39)	L590F	probably damaging	Het
Syde2	CAGTT	CAGTTAGTT	3: 145,707,163 (GRCm39)		probably null	Het
Tbc1d2b	A	G	9: 90,109,510 (GRCm39)	L322P	probably benign	Het
Tdrp	T	C	8: 14,024,590 (GRCm39)	E18G	possibly damaging	Het
Tlr3	T	A	8: 45,855,862 (GRCm39)	N106I	probably damaging	Het
Tmem104	T	A	11: 115,092,227 (GRCm39)	I112N	probably damaging	Het
Tmem14c	C	T	13: 41,174,598 (GRCm39)	T69I	probably benign	Het
Tmprss11g	G	A	5: 86,644,377 (GRCm39)	P156S	possibly damaging	Het
Ttn	A	T	2: 76,700,947 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,082 (GRCm39)	I296N	probably benign	Het
Vmn2r1	T	A	3: 63,997,418 (GRCm39)	V358D	probably benign	Het
Zc3h7b	T	C	15: 81,677,375 (GRCm39)	L892P	probably damaging	Het
Zfp366	A	G	13: 99,365,451 (GRCm39)	Q204R	probably benign	Het
Zfp598	C	A	17: 24,899,872 (GRCm39)		probably benign	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
R3406: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
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'- TGACAGAAGGTCCCATTTCCAG -3'
(R):5'- ACAGGCTGTGAAGTTGAGTG -3'

Sequencing Primer
(F):5'- CCAGTATTATAAGGTACATGTGGCCC -3'
(R):5'- AGTGTGGGTTCTCTGACCCTC -3'

Posted On

2016-06-06