Mutagenetix > Incidental Mutation

Incidental Mutation 'R2188:Myl6'

237935

Institutional Source

Beutler Lab

Gene Symbol

Myl6

Ensembl Gene

ENSMUSG00000090841

Gene Name

myosin, light polypeptide 6, alkali, smooth muscle and non-muscle

Synonyms

MLC3NM, MLC3nm, Myln

MMRRC Submission

040190-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R2188 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

128326728-128329755 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128328566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 27 (I27T)

Ref Sequence

ENSEMBL: ENSMUSP00000151915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026428] [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000164181] [ENSMUST00000217733] [ENSMUST00000217776] [ENSMUST00000218127] [ENSMUST00000219236] [ENSMUST00000217969] [ENSMUST00000220307] [ENSMUST00000220427] [ENSMUST00000218228]

AlphaFold

Q60605

Predicted Effect

probably benign
Transcript: ENSMUST00000026428

SMART Domains

Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	31	50	N/A	INTRINSIC
EFh	67	95	5.08e-3	SMART
EFh	144	172	6.38e0	SMART
Blast:EFh	179	207	9e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000026433

SMART Domains

Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	4.9e-38	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
low complexity region	768	816	N/A	INTRINSIC
low complexity region	861	879	N/A	INTRINSIC
coiled coil region	906	921	N/A	INTRINSIC
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1074	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099131

SMART Domains

Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	424	512	3.9e-38	PFAM
SANT	628	676	9.04e-12	SMART
low complexity region	799	847	N/A	INTRINSIC
low complexity region	892	910	N/A	INTRINSIC
coiled coil region	937	952	N/A	INTRINSIC
low complexity region	979	1013	N/A	INTRINSIC
low complexity region	1016	1041	N/A	INTRINSIC
low complexity region	1043	1093	N/A	INTRINSIC
low complexity region	1105	1129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105235

SMART Domains

Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369

Domain	Start	End	E-Value	Type
low complexity region	48	64	N/A	INTRINSIC
CHROMO	186	235	5.97e-6	SMART
low complexity region	297	307	N/A	INTRINSIC
Pfam:SWIRM	426	512	4.5e-35	PFAM
low complexity region	545	557	N/A	INTRINSIC
SANT	597	645	9.04e-12	SMART
Pfam:SWIRM-assoc_3	684	750	4.1e-34	PFAM
low complexity region	768	816	N/A	INTRINSIC
Pfam:SWIRM-assoc_1	863	946	1.5e-34	PFAM
low complexity region	948	982	N/A	INTRINSIC
low complexity region	985	1010	N/A	INTRINSIC
low complexity region	1012	1062	N/A	INTRINSIC
low complexity region	1077	1093	N/A	INTRINSIC
low complexity region	1108	1123	N/A	INTRINSIC
low complexity region	1153	1177	N/A	INTRINSIC
low complexity region	1184	1212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164181
AA Change: I27T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841
AA Change: I27T

Domain	Start	End	E-Value	Type
EFh	11	39	8.98e-4	SMART
EFh	88	116	3.64e1	SMART
EFh	123	151	6.63e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217733
AA Change: I27T

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217776
AA Change: I27T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000218127
AA Change: I27T

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219236
AA Change: I27T

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000217969
AA Change: I15T

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000220307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219655

Predicted Effect

probably benign
Transcript: ENSMUST00000220427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218170

Predicted Effect

probably benign
Transcript: ENSMUST00000218228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217913

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,838,367 (GRCm39)	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,784,658 (GRCm39)	D195A	probably damaging	Het
Atad3a	A	T	4: 155,835,976 (GRCm39)	I274N	probably damaging	Het
Ccdc12	G	T	9: 110,485,699 (GRCm39)	K23N	possibly damaging	Het
Ccpg1	A	G	9: 72,920,388 (GRCm39)	T668A	probably benign	Het
Cdc34b	T	C	11: 94,632,998 (GRCm39)	I66T	probably benign	Het
Dnah1	A	G	14: 31,001,121 (GRCm39)	I2408T	probably damaging	Het
Fam91a1	A	C	15: 58,302,512 (GRCm39)	N284T	probably damaging	Het
Gbp2b	A	T	3: 142,314,040 (GRCm39)	E440V	probably benign	Het
Gm5134	T	C	10: 75,831,670 (GRCm39)	S370P	probably damaging	Het
Hmcn2	G	A	2: 31,309,947 (GRCm39)	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,384,584 (GRCm39)	E118G	possibly damaging	Het
Itprid2	T	C	2: 79,475,267 (GRCm39)	S409P	probably benign	Het
Kdm5a	T	A	6: 120,383,601 (GRCm39)	F781I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,737,181 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 41,298,971 (GRCm39)	T857A	probably benign	Het
Mucl2	T	A	15: 103,927,840 (GRCm39)	N39I	probably damaging	Het
Ndor1	A	T	2: 25,141,765 (GRCm39)		probably null	Het
Nlrp9a	A	G	7: 26,264,354 (GRCm39)	E758G	probably damaging	Het
Or52h7	G	A	7: 104,213,883 (GRCm39)	A152T	probably benign	Het
Or8u8	A	T	2: 86,011,780 (GRCm39)	I225N	probably damaging	Het
Parp3	G	A	9: 106,353,051 (GRCm39)	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,798,600 (GRCm39)	I495V	probably damaging	Het
Qrfprl	C	A	6: 65,418,260 (GRCm39)	H143N	probably damaging	Het
Sdsl	C	T	5: 120,596,485 (GRCm39)	G310S	probably damaging	Het
Sec24a	A	G	11: 51,614,411 (GRCm39)	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,540,736 (GRCm39)	S197F	probably benign	Het
Snapc1	T	A	12: 74,017,001 (GRCm39)	I213N	probably damaging	Het
Srpk1	A	T	17: 28,813,163 (GRCm39)	I527N	probably damaging	Het
Steap2	G	T	5: 5,723,643 (GRCm39)	Y412*	probably null	Het
Tbk1	A	C	10: 121,399,836 (GRCm39)	Y329*	probably null	Het
Tekt5	T	C	16: 10,176,189 (GRCm39)	E452G	probably damaging	Het
Tmc5	G	T	7: 118,254,178 (GRCm39)	C672F	probably damaging	Het
Trim27	T	C	13: 21,367,987 (GRCm39)	L201S	probably damaging	Het
Vil1	A	C	1: 74,466,724 (GRCm39)	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Zfp583	C	T	7: 6,320,610 (GRCm39)	R134H	probably benign	Het

Other mutations in Myl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01701:Myl6	APN	10	128,327,966 (GRCm39)	missense	probably damaging	1.00
R0413:Myl6	UTSW	10	128,328,091 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTCAAGTTTGGCACCTATG -3'
(R):5'- AAAGAAGGTTGCCTGTCTTTATGTG -3'

Sequencing Primer
(F):5'- TATGCAGATAAAGGGATGACTTTAGC -3'
(R):5'- AATAGATCCCTAGGAGTAGTCTTGTG -3'

Posted On

2014-10-02