Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Actbl2'

510364

Institutional Source

Beutler Lab

Gene Symbol

Actbl2

Ensembl Gene

ENSMUSG00000055194

Gene Name

actin, beta-like 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111255013-111257749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111255381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 83 (M83I)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

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

AlphaFold

Q8BFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000054716
AA Change: M83I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: M83I

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

Meta Mutation Damage Score

0.4844

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,468,128	R274S	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably damaging	Het

Other mutations in Actbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02065:Actbl2	APN	13	111255691	missense	probably benign	0.16
IGL02391:Actbl2	APN	13	111255167	missense	possibly damaging	0.61
IGL02966:Actbl2	APN	13	111255572	missense	probably damaging	1.00
IGL03160:Actbl2	APN	13	111255928	missense	probably benign	0.10
IGL03271:Actbl2	APN	13	111255874	missense	probably benign
IGL02802:Actbl2	UTSW	13	111255776	missense	probably damaging	1.00
R1500:Actbl2	UTSW	13	111255320	missense	probably damaging	1.00
R2119:Actbl2	UTSW	13	111255160	missense	probably benign	0.36
R2504:Actbl2	UTSW	13	111256183	missense	possibly damaging	0.83
R5029:Actbl2	UTSW	13	111255593	missense	probably benign	0.24
R5460:Actbl2	UTSW	13	111255704	missense	probably benign
R6375:Actbl2	UTSW	13	111255944	missense	probably damaging	1.00
R7003:Actbl2	UTSW	13	111255956	missense	probably damaging	0.96
R7399:Actbl2	UTSW	13	111255593	missense	probably benign	0.24
R7407:Actbl2	UTSW	13	111256218	missense	probably damaging	1.00
R7482:Actbl2	UTSW	13	111256139	missense	probably damaging	0.99
R7568:Actbl2	UTSW	13	111255422	missense	possibly damaging	0.62
R7645:Actbl2	UTSW	13	111256255	missense	probably benign	0.31
R7784:Actbl2	UTSW	13	111255411	missense	probably damaging	0.98
R8882:Actbl2	UTSW	13	111255499	missense	probably benign
X0063:Actbl2	UTSW	13	111255325	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GGTTGACGATGAGCTGACTG -3'
(R):5'- CGGCTTGGATTGCTACATACATG -3'

Sequencing Primer
(F):5'- CTGACTGCTTTGGTAGTAGATAATG -3'
(R):5'- ATTGCTACATACATGGCAGGTG -3'

Posted On

2018-04-02