Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Actbl2'

293869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actbl2

Ensembl Gene

ENSMUSG00000055194

Gene Name

actin, beta-like 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

111255013-111257749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111255167 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 12 (D12G)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

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

AlphaFold

Q8BFZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054716
AA Change: D12G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: D12G

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	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
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
R6321:Actbl2	UTSW	13	111255381	missense	probably damaging	0.99
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

Posted On

2015-04-16