Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02966:Actbl2'

365575

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: 0.168) question?

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

111391547-111394283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111392106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 147 (G147E)

Ref Sequence

ENSEMBL: ENSMUSP00000052086 (fasta)

Gene Model

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

AlphaFold

Q8BFZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000054716
AA Change: G147E

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

SMART Domains

Protein: ENSMUSP00000052086
Gene: ENSMUSG00000055194
AA Change: G147E

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 80,463,317 (GRCm39)	Y797N	possibly damaging	Het
Adam18	A	T	8: 25,101,165 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,880,556 (GRCm39)	V175I	probably benign	Het
Alox12	T	A	11: 70,140,911 (GRCm39)	T375S	probably damaging	Het
Batf2	C	A	19: 6,221,819 (GRCm39)	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,385,494 (GRCm39)	S76P	probably damaging	Het
Bphl	A	T	13: 34,247,980 (GRCm39)	H251L	probably damaging	Het
C130074G19Rik	C	A	1: 184,614,943 (GRCm39)	E82D	probably damaging	Het
Calu	A	T	6: 29,356,584 (GRCm39)	K39*	probably null	Het
Capns1	T	C	7: 29,891,618 (GRCm39)	D142G	probably damaging	Het
Ccr8	T	C	9: 119,923,206 (GRCm39)	V107A	probably damaging	Het
Cep170b	G	A	12: 112,702,878 (GRCm39)	G447D	possibly damaging	Het
Chat	C	T	14: 32,170,903 (GRCm39)	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,075,575 (GRCm39)	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,771,249 (GRCm39)	T145A	probably benign	Het
Dgkq	T	A	5: 108,804,287 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,369,948 (GRCm39)	I4458V	probably benign	Het
Enpp1	T	A	10: 24,536,172 (GRCm39)	E409D	probably damaging	Het
Fam78b	G	T	1: 166,906,457 (GRCm39)	L205F	probably damaging	Het
Foxr2	C	A	X: 151,913,677 (GRCm39)	R183S	probably damaging	Het
Ganc	T	C	2: 120,264,129 (GRCm39)	S361P	probably damaging	Het
Gfra4	C	A	2: 130,884,560 (GRCm39)	A15S	possibly damaging	Het
Gm8011	A	T	14: 42,287,957 (GRCm39)	D145V	unknown	Het
Gnb4	A	G	3: 32,639,372 (GRCm39)	V307A	probably benign	Het
Hdac4	A	T	1: 91,982,667 (GRCm39)	V17E	possibly damaging	Het
Herc6	G	A	6: 57,560,318 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,383 (GRCm39)	T1945A	probably benign	Het
Ica1l	A	T	1: 60,049,298 (GRCm39)	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,274,887 (GRCm39)	L1939Q	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,380,499 (GRCm39)	R117C	probably damaging	Het
Megf6	T	C	4: 154,338,234 (GRCm39)	S327P	probably damaging	Het
Mocos	T	G	18: 24,809,668 (GRCm39)	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014 (GRCm39)	W14R	probably benign	Het
Mysm1	A	T	4: 94,863,523 (GRCm39)	D23E	probably benign	Het
Naa35	T	A	13: 59,734,085 (GRCm39)	D34E	probably benign	Het
Nid1	A	G	13: 13,656,806 (GRCm39)	I646V	probably benign	Het
Nupr1	T	C	7: 126,224,073 (GRCm39)		probably benign	Het
Or2aj6	G	T	16: 19,443,051 (GRCm39)	H266Q	probably damaging	Het
Or5b24	A	T	19: 12,912,164 (GRCm39)	I21F	probably benign	Het
Or8b12b	T	G	9: 37,684,882 (GRCm39)	L309R	probably benign	Het
Pcbp2	A	C	15: 102,392,684 (GRCm39)		probably benign	Het
Pde8b	T	C	13: 95,232,156 (GRCm39)	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,289,291 (GRCm39)	Y703C	probably damaging	Het
Plxnb3	T	C	X: 72,808,889 (GRCm39)	S885P	probably benign	Het
Poc1b	T	A	10: 98,980,176 (GRCm39)	C136S	probably damaging	Het
Pole2	T	C	12: 69,256,649 (GRCm39)	D292G	probably damaging	Het
Prpf39	T	C	12: 65,089,553 (GRCm39)	V97A	probably benign	Het
Rbbp8	T	A	18: 11,838,869 (GRCm39)	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,532,188 (GRCm39)	T600M	possibly damaging	Het
Spata32	T	C	11: 103,099,629 (GRCm39)	Q292R	possibly damaging	Het
Sugp1	T	C	8: 70,523,758 (GRCm39)		probably benign	Het
Sult3a1	A	C	10: 33,753,269 (GRCm39)		probably benign	Het
Tpm3-rs7	C	T	14: 113,552,810 (GRCm39)	Q235*	probably null	Het
Trbv2	A	T	6: 41,024,685 (GRCm39)	T34S	possibly damaging	Het
Tssk6	A	G	8: 70,355,535 (GRCm39)	Y193C	probably benign	Het
Ttn	T	C	2: 76,538,802 (GRCm39)	K34676R	possibly damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,479,101 (GRCm39)	K1072E	possibly 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
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
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

2015-12-18