Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03160:Actbl2'

411383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actbl2

Ensembl Gene

ENSMUSG00000055194

Gene Name

actin, beta-like 2

Synonyms

4732495G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL03160

Quality Score

Status

Chromosome

Chromosomal Location

111391547-111394283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111392462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054716]

AlphaFold

Q8BFZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000054716
AA Change: S266P

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: S266P

Domain	Start	End	E-Value	Type
ACTIN	6	376	5.41e-229	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,254,820 (GRCm39)	F1525Y	probably damaging	Het
Akap13	T	C	7: 75,380,165 (GRCm39)	V2165A	probably damaging	Het
Ccn6	T	C	10: 39,029,233 (GRCm39)	T232A	probably damaging	Het
Cd109	G	T	9: 78,568,338 (GRCm39)		probably null	Het
Cdhr4	A	C	9: 107,873,068 (GRCm39)	T339P	probably benign	Het
Chek1	T	C	9: 36,633,941 (GRCm39)	H128R	probably damaging	Het
Clcn7	T	A	17: 25,365,427 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,998,880 (GRCm39)	F1056S	probably damaging	Het
Eml3	A	T	19: 8,912,319 (GRCm39)	Q372L	probably benign	Het
Fam161b	T	C	12: 84,400,599 (GRCm39)	T458A	probably benign	Het
Fbxo3	T	A	2: 103,860,692 (GRCm39)	C36*	probably null	Het
Gm28042	T	A	2: 119,866,309 (GRCm39)	I369N	possibly damaging	Het
Gpc1	A	G	1: 92,785,579 (GRCm39)	Y423C	probably damaging	Het
Heatr5a	A	G	12: 51,931,279 (GRCm39)		probably benign	Het
Hectd4	A	T	5: 121,397,942 (GRCm39)	Y290F	probably benign	Het
Ifi207	T	C	1: 173,562,670 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,500,605 (GRCm39)	K657*	probably null	Het
Lama5	T	C	2: 179,822,128 (GRCm39)	T2927A	probably damaging	Het
Lepr	A	T	4: 101,622,103 (GRCm39)	N345I	probably damaging	Het
Mtbp	T	C	15: 55,484,013 (GRCm39)		probably benign	Het
Muc1	G	A	3: 89,140,331 (GRCm39)	V608I	possibly damaging	Het
Or56a3	A	G	7: 104,735,520 (GRCm39)	N199S	probably damaging	Het
P2ry13	A	G	3: 59,117,496 (GRCm39)	L94P	probably damaging	Het
Retreg3	G	T	11: 100,990,501 (GRCm39)	Q89K	probably benign	Het
Rhoq	A	C	17: 87,304,349 (GRCm39)	Y160S	probably damaging	Het
Samd9l	A	T	6: 3,374,894 (GRCm39)	V789D	probably damaging	Het
Slc35f5	T	C	1: 125,502,472 (GRCm39)	S275P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Snapc1	T	A	12: 74,016,978 (GRCm39)	H205Q	probably damaging	Het
Stard3	G	T	11: 98,269,737 (GRCm39)	R352L	probably damaging	Het
Stat5a	A	G	11: 100,752,671 (GRCm39)	I85V	possibly damaging	Het
Tenm3	A	T	8: 49,099,453 (GRCm39)	D117E	probably benign	Het
Tg	T	A	15: 66,711,152 (GRCm39)	C971*	probably null	Het
Tnrc6c	T	A	11: 117,640,651 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,240,798 (GRCm39)	V4I	possibly damaging	Het
Trim54	C	T	5: 31,289,424 (GRCm39)	T145I	probably damaging	Het
Vmn2r75	T	C	7: 85,797,644 (GRCm39)	D723G	probably damaging	Het
Wnk1	T	C	6: 119,903,594 (GRCm39)	T2042A	probably damaging	Het
Zfp87	T	C	13: 67,669,392 (GRCm39)	E18G	probably damaging	Het

Other mutations in Actbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02065:Actbl2	APN	13	111,392,225 (GRCm39)	missense	probably benign	0.16
IGL02391:Actbl2	APN	13	111,391,701 (GRCm39)	missense	possibly damaging	0.61
IGL02966:Actbl2	APN	13	111,392,106 (GRCm39)	missense	probably damaging	1.00
IGL03271:Actbl2	APN	13	111,392,408 (GRCm39)	missense	probably benign
IGL02802:Actbl2	UTSW	13	111,392,310 (GRCm39)	missense	probably damaging	1.00
R1500:Actbl2	UTSW	13	111,391,854 (GRCm39)	missense	probably damaging	1.00
R2119:Actbl2	UTSW	13	111,391,694 (GRCm39)	missense	probably benign	0.36
R2504:Actbl2	UTSW	13	111,392,717 (GRCm39)	missense	possibly damaging	0.83
R5029:Actbl2	UTSW	13	111,392,127 (GRCm39)	missense	probably benign	0.24
R5460:Actbl2	UTSW	13	111,392,238 (GRCm39)	missense	probably benign
R6321:Actbl2	UTSW	13	111,391,915 (GRCm39)	missense	probably damaging	0.99
R6375:Actbl2	UTSW	13	111,392,478 (GRCm39)	missense	probably damaging	1.00
R7003:Actbl2	UTSW	13	111,392,490 (GRCm39)	missense	probably damaging	0.96
R7399:Actbl2	UTSW	13	111,392,127 (GRCm39)	missense	probably benign	0.24
R7407:Actbl2	UTSW	13	111,392,752 (GRCm39)	missense	probably damaging	1.00
R7482:Actbl2	UTSW	13	111,392,673 (GRCm39)	missense	probably damaging	0.99
R7568:Actbl2	UTSW	13	111,391,956 (GRCm39)	missense	possibly damaging	0.62
R7645:Actbl2	UTSW	13	111,392,789 (GRCm39)	missense	probably benign	0.31
R7784:Actbl2	UTSW	13	111,391,945 (GRCm39)	missense	probably damaging	0.98
R8882:Actbl2	UTSW	13	111,392,033 (GRCm39)	missense	probably benign
X0063:Actbl2	UTSW	13	111,391,859 (GRCm39)	missense	probably benign	0.35

Posted On

2016-08-02