Mutagenetix > Incidental Mutation

Incidental Mutation 'R6375:Actbl2'

514930

Institutional Source

Beutler Lab

Gene Symbol

Actbl2

Ensembl Gene

ENSMUSG00000055194

Gene Name

actin, beta-like 2

Synonyms

4732495G21Rik

MMRRC Submission

044525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R6375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111391547-111394283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111392478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 271 (E271G)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

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

AlphaFold

Q8BFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000054716
AA Change: E271G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: E271G

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

Meta Mutation Damage Score

0.6293

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,606,536 (GRCm39)	I797N	possibly damaging	Het
Aplp2	T	C	9: 31,069,084 (GRCm39)	N526D	probably benign	Het
Cacna1e	A	C	1: 154,355,051 (GRCm39)	N389K	probably damaging	Het
Ccdc18	T	C	5: 108,322,820 (GRCm39)	I640T	possibly damaging	Het
Ccdc39	T	A	3: 33,868,516 (GRCm39)	T857S	probably benign	Het
Ccser1	T	A	6: 61,288,152 (GRCm39)	L105*	probably null	Het
Efhc1	T	A	1: 21,043,164 (GRCm39)	M361K	probably benign	Het
Eml5	T	C	12: 98,765,127 (GRCm39)			Het
Fgfr2	C	A	7: 129,769,475 (GRCm39)	L637F	probably damaging	Het
Fmo9	A	G	1: 166,492,164 (GRCm39)		probably null	Het
Gm4302	A	G	10: 100,177,258 (GRCm39)	T181A	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hoxb4	A	G	11: 96,211,153 (GRCm39)	*251W	probably null	Het
Il1r1	T	A	1: 40,334,050 (GRCm39)	Y207N	probably damaging	Het
Kcnc2	C	T	10: 112,299,094 (GRCm39)	T622M	possibly damaging	Het
Kcnk9	C	T	15: 72,418,092 (GRCm39)	A13T	probably benign	Het
Kdm4c	C	T	4: 74,248,952 (GRCm39)	P69S	probably damaging	Het
Kmt2e	T	C	5: 23,704,517 (GRCm39)	S1237P	probably benign	Het
Lrrc37a	G	A	11: 103,391,915 (GRCm39)	T1170I	probably benign	Het
Lyn	T	A	4: 3,745,527 (GRCm39)	F109I	probably damaging	Het
Lynx1	T	C	15: 74,623,168 (GRCm39)	Y88C	probably damaging	Het
Mon1b	T	A	8: 114,364,709 (GRCm39)	I162N	probably damaging	Het
Muc4	A	G	16: 32,555,061 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,979,327 (GRCm39)	F437L	probably benign	Het
Neil3	T	C	8: 54,040,311 (GRCm39)	K564E	possibly damaging	Het
Nfe2l1	A	T	11: 96,710,877 (GRCm39)	S293T	probably damaging	Het
Or10al5	T	A	17: 38,062,990 (GRCm39)	S82T	probably benign	Het
Or14c39	C	T	7: 86,344,267 (GRCm39)	A201V	probably benign	Het
Or2ag2	C	A	7: 106,485,221 (GRCm39)	A268S	probably benign	Het
Or51g2	T	C	7: 102,622,960 (GRCm39)	T80A	probably damaging	Het
Pcdhb22	A	T	18: 37,651,357 (GRCm39)		probably benign	Het
Pcdhgb6	A	G	18: 37,875,678 (GRCm39)	N129D	probably damaging	Het
Pias2	C	T	18: 77,240,366 (GRCm39)	T574M	possibly damaging	Het
Plec	G	A	15: 76,061,840 (GRCm39)	T2564I	probably damaging	Het
Qrich2	A	G	11: 116,349,054 (GRCm39)		probably benign	Het
Scgb1b12	T	A	7: 32,033,884 (GRCm39)	V48E	probably damaging	Het
Scn5a	A	T	9: 119,372,422 (GRCm39)	L224Q	probably damaging	Het
Snx3	T	A	10: 42,410,727 (GRCm39)	Y132*	probably null	Het
Stk39	T	A	2: 68,222,582 (GRCm39)	I161F	probably benign	Het
Tcaf2	A	C	6: 42,603,112 (GRCm39)	L816R	probably damaging	Het
Thap4	C	A	1: 93,652,878 (GRCm39)		probably null	Het
Tmc5	T	A	7: 118,256,037 (GRCm39)	V704E	probably damaging	Het
Tmem39a	A	G	16: 38,405,599 (GRCm39)	T59A	probably benign	Het
Tshz2	A	G	2: 169,727,939 (GRCm39)	N376S	probably damaging	Het
Vmn1r60	T	C	7: 5,548,017 (GRCm39)	N28D	probably damaging	Het
Zfp637	C	T	6: 117,822,285 (GRCm39)	R138W	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
IGL03160:Actbl2	APN	13	111,392,462 (GRCm39)	missense	probably benign	0.10
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
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

Predicted Primers

PCR Primer
(F):5'- AAAAGTTGTGCTACGTGGCCC -3'
(R):5'- TCTGCTGGAATGTGGACAGG -3'

Sequencing Primer
(F):5'- CCCTGGACTTTGAGCAGGAGATG -3'
(R):5'- CAAACCGAATACTTGCGTTCTGGG -3'

Posted On

2018-05-04