Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01730:Myl6b'

105432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myl6b

Ensembl Gene

ENSMUSG00000039824

Gene Name

myosin, light polypeptide 6B

Synonyms

5730437E04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

IGL01730

Quality Score

Status

Chromosome

Chromosomal Location

128330026-128334554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128332211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 85 (Y85C)

Ref Sequence

ENSEMBL: ENSMUSP00000026428 (fasta)

Gene Model

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

AlphaFold

Q8CI43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026428
AA Change: Y85C

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026428
Gene: ENSMUSG00000039824
AA Change: Y85C

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: ENSMUST00000164181

SMART Domains

Protein: ENSMUSP00000128803
Gene: ENSMUSG00000090841

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

noncoding transcript
Transcript: ENSMUST00000180477

Predicted Effect

probably benign
Transcript: ENSMUST00000217733

Predicted Effect

probably benign
Transcript: ENSMUST00000217776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217913

Predicted Effect

probably benign
Transcript: ENSMUST00000217969

Predicted Effect

probably benign
Transcript: ENSMUST00000218127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219655

Predicted Effect

probably benign
Transcript: ENSMUST00000220427

Predicted Effect

probably benign
Transcript: ENSMUST00000219236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219100

Predicted Effect

probably benign
Transcript: ENSMUST00000220307

Coding Region Coverage

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 expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,119,583 (GRCm39)	E287G	probably damaging	Het
Bhmt	A	T	13: 93,761,917 (GRCm39)	V122E	probably damaging	Het
Camta1	A	G	4: 151,147,302 (GRCm39)	I585T	probably damaging	Het
Cfap221	A	G	1: 119,861,841 (GRCm39)	S645P	probably benign	Het
Derl1	A	T	15: 57,755,543 (GRCm39)	F50Y	possibly damaging	Het
Dhrs3	T	C	4: 144,646,042 (GRCm39)	S117P	probably damaging	Het
E2f8	A	T	7: 48,527,682 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,154,894 (GRCm39)		probably benign	Het
Fbxo15	A	G	18: 84,982,299 (GRCm39)	I250M	probably benign	Het
Ghr	A	T	15: 3,350,066 (GRCm39)	S371T	probably damaging	Het
Gm5884	A	T	6: 128,622,669 (GRCm39)		noncoding transcript	Het
Grhl2	T	C	15: 37,338,018 (GRCm39)	V496A	probably benign	Het
Gsap	A	G	5: 21,495,152 (GRCm39)		probably benign	Het
Irak3	T	C	10: 120,014,005 (GRCm39)	D148G	probably benign	Het
Itga2	A	T	13: 114,990,947 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,987,810 (GRCm39)		probably null	Het
Kif20b	A	T	19: 34,927,923 (GRCm39)	K1022*	probably null	Het
Klhl17	G	T	4: 156,316,157 (GRCm39)	S399*	probably null	Het
Lcp2	A	T	11: 34,000,943 (GRCm39)	D42V	possibly damaging	Het
Lin7c	G	T	2: 109,726,785 (GRCm39)	G145*	probably null	Het
Lrba	A	G	3: 86,648,731 (GRCm39)	D2493G	possibly damaging	Het
Mobp	A	G	9: 119,996,992 (GRCm39)	D41G	probably damaging	Het
Mycbp2	G	A	14: 103,372,640 (GRCm39)	Q785*	probably null	Het
Nup133	G	T	8: 124,664,972 (GRCm39)	H240N	probably benign	Het
Or5b12	A	C	19: 12,896,926 (GRCm39)	F249C	probably damaging	Het
Plk4	T	C	3: 40,760,285 (GRCm39)	S394P	probably benign	Het
Prepl	A	G	17: 85,388,603 (GRCm39)	Y167H	possibly damaging	Het
Prkab1	A	G	5: 116,159,551 (GRCm39)	L105P	probably damaging	Het
Ryr2	T	A	13: 11,616,728 (GRCm39)	I3897L	possibly damaging	Het
Sema3c	A	G	5: 17,916,434 (GRCm39)	S469G	probably benign	Het
Serpinb3c	T	A	1: 107,200,914 (GRCm39)	S168C	probably damaging	Het
Snapc4	A	T	2: 26,253,736 (GRCm39)		probably null	Het
Sorcs2	A	T	5: 36,205,153 (GRCm39)	M528K	probably damaging	Het
Spink10	T	A	18: 62,784,816 (GRCm39)		probably null	Het
Tent5b	A	T	4: 133,213,833 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,554,980 (GRCm39)	Q301H	probably benign	Het
Tmem135	A	T	7: 88,797,252 (GRCm39)	F335I	possibly damaging	Het
Tshr	A	T	12: 91,486,077 (GRCm39)	D217V	possibly damaging	Het
Ttyh1	G	A	7: 4,128,720 (GRCm39)	V206M	possibly damaging	Het
Tusc3	T	G	8: 39,617,880 (GRCm39)	*348G	probably null	Het
Vmn2r76	G	A	7: 85,879,406 (GRCm39)	T298I	probably benign	Het
Wdr47	T	C	3: 108,518,712 (GRCm39)	F67L	probably damaging	Het

Other mutations in Myl6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Myl6b	APN	10	128,333,210 (GRCm39)	unclassified	probably benign
PIT4260001:Myl6b	UTSW	10	128,332,175 (GRCm39)	missense	possibly damaging	0.48
R1971:Myl6b	UTSW	10	128,330,512 (GRCm39)	missense	probably damaging	0.98
R5476:Myl6b	UTSW	10	128,333,216 (GRCm39)	unclassified	probably benign
R6361:Myl6b	UTSW	10	128,333,078 (GRCm39)	nonsense	probably null
R7149:Myl6b	UTSW	10	128,333,068 (GRCm39)	critical splice donor site	probably null
R7540:Myl6b	UTSW	10	128,332,149 (GRCm39)	nonsense	probably null
R8221:Myl6b	UTSW	10	128,333,209 (GRCm39)	missense	unknown
R9435:Myl6b	UTSW	10	128,331,066 (GRCm39)	missense	possibly damaging	0.87

Posted On

2014-01-21