Mutagenetix > Incidental Mutation

Incidental Mutation 'R5305:Actb'

404495

Institutional Source

Beutler Lab

Gene Symbol

Actb

Ensembl Gene

ENSMUSG00000029580

Gene Name

actin, beta

Synonyms

A-X actin-like protein, beta-actin, Actx, E430023M04Rik

MMRRC Submission

042888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142888870-142892509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142889985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 194 (I194T)

Ref Sequence

ENSEMBL: ENSMUSP00000127663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100497] [ENSMUST00000106216] [ENSMUST00000163829] [ENSMUST00000167721] [ENSMUST00000171419]

AlphaFold

P60710

Predicted Effect

probably benign
Transcript: ENSMUST00000100497
AA Change: I274T

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098066
Gene: ENSMUSG00000029580
AA Change: I274T

Domain	Start	End	E-Value	Type
ACTIN	5	375	1.67e-243	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106216

SMART Domains

Protein: ENSMUSP00000101823
Gene: ENSMUSG00000029580

Domain	Start	End	E-Value	Type
ACTIN	8	150	8.66e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163829

SMART Domains

Protein: ENSMUSP00000132135
Gene: ENSMUSG00000029580

Domain	Start	End	E-Value	Type
Pfam:Actin	2	58	8.5e-18	PFAM
Pfam:Actin	52	108	6.8e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167386

Predicted Effect

probably benign
Transcript: ENSMUST00000167721
AA Change: I194T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127663
Gene: ENSMUSG00000029580
AA Change: I194T

Domain	Start	End	E-Value	Type
ACTIN	5	295	1.84e-149	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196997

Predicted Effect

probably benign
Transcript: ENSMUST00000171419

SMART Domains

Protein: ENSMUSP00000130611
Gene: ENSMUSG00000029580

Domain	Start	End	E-Value	Type
ACTIN	5	265	3.43e-117	SMART

Meta Mutation Damage Score

0.9424

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the actin family of proteins. Actins are highly conserved proteins that are among the most abundant proteins in eukaryotic cells and are involved in cell motility, structure, and integrity. Localization, stability, and translation of the transcribed mRNA are regulated through the binding of multiple factors to its 3' UTR sequence. Homozygous knockout mice for this gene exhibit embryonic lethality. Numerous pseudogenes of this gene have been identified in the mouse genome. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants are embryonic lethal. Homozygotes for a hypomorphic targeted mutation develop normally until embryonic day 8.5; are growth retarded by day 9.5 and die shortly thereafter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,943,420 (GRCm39)	V11M	possibly damaging	Het
Acot8	A	G	2: 164,637,685 (GRCm39)	V179A	probably benign	Het
Ap1g2	A	G	14: 55,336,533 (GRCm39)	V787A	probably benign	Het
Areg	G	T	5: 91,292,308 (GRCm39)	A203S	probably damaging	Het
Asb13	A	T	13: 3,693,479 (GRCm39)	D79V	probably damaging	Het
Atad2b	C	T	12: 5,015,855 (GRCm39)	T527I	probably damaging	Het
Auts2	T	G	5: 131,472,632 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,885,501 (GRCm39)	S35T	probably damaging	Het
Crebzf	T	C	7: 90,093,342 (GRCm39)		probably benign	Het
Cttnbp2	G	T	6: 18,381,097 (GRCm39)	N1366K	probably benign	Het
Cubn	C	A	2: 13,393,750 (GRCm39)	C1417F	probably damaging	Het
Dot1l	C	T	10: 80,626,627 (GRCm39)	P162S	probably benign	Het
Epc1	G	A	18: 6,490,690 (GRCm39)		probably benign	Het
Eps8l1	A	G	7: 4,480,895 (GRCm39)	S613G	possibly damaging	Het
Erich6	T	G	3: 58,532,537 (GRCm39)	I357L	probably benign	Het
Foxj3	T	A	4: 119,477,155 (GRCm39)	S288T	possibly damaging	Het
Gls2	T	G	10: 128,040,578 (GRCm39)	Y326*	probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm7535	T	C	17: 18,132,061 (GRCm39)		probably benign	Het
Gxylt2	T	G	6: 100,764,179 (GRCm39)	L288R	probably damaging	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Mgat4c	T	A	10: 102,225,140 (GRCm39)	F451L	possibly damaging	Het
Mrpl20	G	A	4: 155,888,162 (GRCm39)	R17H	probably damaging	Het
Mtf2	A	G	5: 108,252,365 (GRCm39)	T465A	possibly damaging	Het
Mycbp2	A	C	14: 103,583,757 (GRCm39)	L66R	probably benign	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nr2e1	A	T	10: 42,447,483 (GRCm39)	Y176*	probably null	Het
Obscn	T	C	11: 58,903,541 (GRCm39)	T7628A	possibly damaging	Het
Or7a37	A	T	10: 78,806,390 (GRCm39)	K302N	possibly damaging	Het
Pitx2	T	G	3: 129,009,489 (GRCm39)	V129G	probably damaging	Het
Polr2e	A	G	10: 79,873,897 (GRCm39)		probably benign	Het
Ppard	A	G	17: 28,517,832 (GRCm39)	D300G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,743 (GRCm39)	V46A	probably benign	Het
Prex2	T	A	1: 11,177,902 (GRCm39)	V332E	probably damaging	Het
Prss30	T	G	17: 24,191,750 (GRCm39)	Y257S	probably benign	Het
Ptprd	T	C	4: 75,900,863 (GRCm39)	E1082G	probably damaging	Het
Rab3c	T	A	13: 110,317,611 (GRCm39)	R89S	probably damaging	Het
Rimbp2	A	G	5: 128,874,445 (GRCm39)	V389A	possibly damaging	Het
Rims1	T	A	1: 22,635,623 (GRCm39)	R119S	probably damaging	Het
Sema3b	T	C	9: 107,480,536 (GRCm39)	H137R	probably null	Het
Sf3b4	G	C	3: 96,080,958 (GRCm39)	A89P	probably damaging	Het
Sgta	T	A	10: 80,882,081 (GRCm39)	Q298L	probably damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sry	T	A	Y: 2,662,982 (GRCm39)	D226V	unknown	Het
Sv2a	A	G	3: 96,092,774 (GRCm39)	E158G	possibly damaging	Het
Sytl2	A	G	7: 90,031,071 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,125,283 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,653,365 (GRCm39)	N56K	possibly damaging	Het
Tyk2	T	C	9: 21,020,677 (GRCm39)	D918G	probably damaging	Het
Uqcrh	A	G	4: 115,924,481 (GRCm39)		probably benign	Het
Vmn1r61	A	G	7: 5,613,814 (GRCm39)	S167P	probably damaging	Het
Wdr25	C	A	12: 108,992,366 (GRCm39)	H74N	probably damaging	Het
Zfp458	T	C	13: 67,404,382 (GRCm39)	N686D	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp976	A	T	7: 42,262,902 (GRCm39)	Y312N	probably benign	Het
Zscan4c	G	A	7: 10,743,462 (GRCm39)	V354I	probably benign	Het

Other mutations in Actb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Actb	APN	5	142,890,191 (GRCm39)	missense	probably damaging	0.97
Cricket	UTSW	5	142,889,985 (GRCm39)	missense	probably benign	0.27
Mormon	UTSW	5	142,890,146 (GRCm39)	missense	probably benign	0.00
R1612:Actb	UTSW	5	142,891,350 (GRCm39)	missense	probably damaging	1.00
R4872:Actb	UTSW	5	142,891,307 (GRCm39)	splice site	probably benign
R5424:Actb	UTSW	5	142,891,306 (GRCm39)	splice site	probably benign
R7329:Actb	UTSW	5	142,890,146 (GRCm39)	missense	probably benign	0.00
R7748:Actb	UTSW	5	142,890,450 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGCTCTGACAACCACAGG -3'
(R):5'- CCAGGTCATCACTATTGGCAACG -3'

Sequencing Primer
(F):5'- TCACCAAGCTAAGGATGCTTAG -3'
(R):5'- AACGAGCGGTTCCGATG -3'

Posted On

2016-07-22