Mutagenetix > Incidental Mutation

Incidental Mutation 'R4492:Actr6'

330790

Institutional Source

Beutler Lab

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

CDA12, ArpX, 2010200J04Rik, Arp6

MMRRC Submission

041581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4492 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89547833-89568157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89561676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 157 (I157L)

Ref Sequence

ENSEMBL: ENSMUSP00000020109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020109] [ENSMUST00000220388]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020109
AA Change: I157L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: I157L

Domain	Start	End	E-Value	Type
ACTIN	1	395	1.09e-110	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220059

Predicted Effect

probably benign
Transcript: ENSMUST00000220388

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	T	C	13: 19,333,928 (GRCm39)	V663A	possibly damaging	Het
Anapc16	A	G	10: 59,826,724 (GRCm39)	S50P	possibly damaging	Het
Ank3	T	A	10: 69,644,755 (GRCm39)	V60D	probably damaging	Het
Btbd9	A	G	17: 30,746,545 (GRCm39)	Y94H	probably damaging	Het
Chil3	A	G	3: 106,063,017 (GRCm39)	I191T	probably damaging	Het
Clpb	T	C	7: 101,436,929 (GRCm39)	L668P	probably damaging	Het
Cyp2d22	G	A	15: 82,258,571 (GRCm39)	H97Y	probably benign	Het
Dhrs7	A	T	12: 72,699,899 (GRCm39)	N244K	probably damaging	Het
Dusp4	C	T	8: 35,274,890 (GRCm39)	T3M	possibly damaging	Het
Edc4	GGATTTTAGCCA	G	8: 106,611,700 (GRCm39)		probably null	Het
Etl4	G	A	2: 20,811,676 (GRCm39)	S1621N	possibly damaging	Het
Fam174a	T	C	1: 95,241,701 (GRCm39)	S54P	probably benign	Het
Fdxacb1	T	C	9: 50,681,547 (GRCm39)	F7S	probably damaging	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,812,468 (GRCm39)	L268H	probably damaging	Het
Gpr17	A	T	18: 32,080,304 (GRCm39)	I253N	possibly damaging	Het
H2-T23	A	T	17: 36,343,058 (GRCm39)	N106K	probably damaging	Het
Hspa4	T	C	11: 53,171,296 (GRCm39)	R303G	probably damaging	Het
Irgm1	G	A	11: 48,756,955 (GRCm39)		silent	Het
Jph1	A	C	1: 17,067,770 (GRCm39)	I114S	probably damaging	Het
Kcna1	C	T	6: 126,619,238 (GRCm39)	D361N	possibly damaging	Het
Kcna4	G	A	2: 107,126,436 (GRCm39)	R390Q	probably damaging	Het
Lum	C	A	10: 97,404,300 (GRCm39)	P65H	probably damaging	Het
Mc4r	A	G	18: 66,992,711 (GRCm39)	L134P	probably benign	Het
Mroh8	A	T	2: 157,099,960 (GRCm39)	I248N	probably damaging	Het
Nos2	A	G	11: 78,840,921 (GRCm39)	T677A	probably benign	Het
Nup37	T	A	10: 88,010,791 (GRCm39)	F257I	possibly damaging	Het
Or13c3	T	C	4: 52,855,764 (GRCm39)	I250V	probably benign	Het
Or6k6	C	T	1: 173,944,770 (GRCm39)	V271I	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pdzd2	A	C	15: 12,419,567 (GRCm39)	M501R	possibly damaging	Het
Pitx1	T	C	13: 55,976,465 (GRCm39)	K65E	probably benign	Het
Pla1a	C	T	16: 38,229,972 (GRCm39)	A247T	probably benign	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Prss8	A	G	7: 127,528,979 (GRCm39)	S26P	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rock2	T	A	12: 17,027,684 (GRCm39)	C1334S	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	A	G	12: 103,613,146 (GRCm39)	W385R	probably damaging	Het
Slc12a5	T	C	2: 164,821,263 (GRCm39)	M249T	probably benign	Het
Srsf9	T	A	5: 115,470,651 (GRCm39)	I117N	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc21a	T	C	9: 119,770,346 (GRCm39)	V139A	probably benign	Het
Zfp236	A	T	18: 82,648,125 (GRCm39)	V1012D	probably damaging	Het
Zfp612	C	A	8: 110,815,929 (GRCm39)	Q379K	probably damaging	Het
Zfp930	C	T	8: 69,680,898 (GRCm39)	Q198*	probably null	Het

Other mutations in Actr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Actr6	APN	10	89,561,703 (GRCm39)	missense	probably damaging	0.99
IGL01420:Actr6	APN	10	89,561,027 (GRCm39)	unclassified	probably benign
IGL02387:Actr6	APN	10	89,550,846 (GRCm39)	missense	probably damaging	1.00
IGL03073:Actr6	APN	10	89,562,556 (GRCm39)	missense	probably damaging	1.00
Allelujeva	UTSW	10	89,550,841 (GRCm39)	missense	probably benign	0.00
Exalt	UTSW	10	89,568,064 (GRCm39)	nonsense	probably null
preiset	UTSW	10	89,562,558 (GRCm39)	missense	probably damaging	1.00
R0145:Actr6	UTSW	10	89,564,040 (GRCm39)	nonsense	probably null
R1413:Actr6	UTSW	10	89,564,019 (GRCm39)	nonsense	probably null
R1611:Actr6	UTSW	10	89,568,064 (GRCm39)	nonsense	probably null
R4271:Actr6	UTSW	10	89,553,101 (GRCm39)	missense	probably benign	0.10
R4913:Actr6	UTSW	10	89,550,808 (GRCm39)	missense	probably benign	0.09
R4976:Actr6	UTSW	10	89,561,717 (GRCm39)	missense	probably damaging	1.00
R5119:Actr6	UTSW	10	89,561,717 (GRCm39)	missense	probably damaging	1.00
R5767:Actr6	UTSW	10	89,562,617 (GRCm39)	missense	probably damaging	0.99
R5946:Actr6	UTSW	10	89,564,054 (GRCm39)	missense	probably benign	0.00
R6443:Actr6	UTSW	10	89,550,733 (GRCm39)	missense	probably damaging	0.98
R6913:Actr6	UTSW	10	89,562,558 (GRCm39)	missense	probably damaging	1.00
R7196:Actr6	UTSW	10	89,550,784 (GRCm39)	missense	possibly damaging	0.89
R7201:Actr6	UTSW	10	89,548,374 (GRCm39)	missense	probably benign	0.10
R7585:Actr6	UTSW	10	89,561,658 (GRCm39)	missense	probably benign
R8559:Actr6	UTSW	10	89,568,048 (GRCm39)	missense	probably benign	0.00
R8809:Actr6	UTSW	10	89,550,841 (GRCm39)	missense	probably benign	0.00
R8918:Actr6	UTSW	10	89,553,057 (GRCm39)	missense	probably damaging	0.99
R9651:Actr6	UTSW	10	89,564,877 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGAGCTTTCCACCCACATTTATC -3'
(R):5'- TCTCTACCTACCACATAAGTGCG -3'

Sequencing Primer
(F):5'- CCTAAAAACAGAGAAATCAACTTTGG -3'
(R):5'- AGAAGACCCAGCTTGCTTTTCAG -3'

Posted On

2015-07-21