Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Actr6'

159710

Institutional Source

Beutler Lab

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

CDA12, ArpX, 2010200J04Rik, Arp6

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89547833-89568157 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89564019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 84 (Y84*)

Ref Sequence

ENSEMBL: ENSMUSP00000151218 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020109
AA Change: Y84*

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: Y84*

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 null
Transcript: ENSMUST00000220388
AA Change: Y84*

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,573,245 (GRCm39)	N1051D	possibly damaging	Het
Abcc9	A	G	6: 142,536,222 (GRCm39)	V1504A	probably damaging	Het
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,586 (GRCm39)		probably benign	Het
Amd1	A	T	10: 40,166,404 (GRCm39)	C157*	probably null	Het
Ank1	G	A	8: 23,609,393 (GRCm39)	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,121,391 (GRCm39)	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,106,911 (GRCm39)	T803I	probably damaging	Het
Atr	T	G	9: 95,814,495 (GRCm39)	L2064R	probably damaging	Het
Bmp3	T	A	5: 99,020,264 (GRCm39)	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,403,892 (GRCm39)	*54W	probably null	Het
Cdc45	A	T	16: 18,627,491 (GRCm39)	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,805,363 (GRCm39)	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,982,542 (GRCm39)	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,892,913 (GRCm39)	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,088,335 (GRCm39)	D166G	unknown	Het
Dmbt1	T	A	7: 130,651,944 (GRCm39)	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,555 (GRCm39)	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Fah	T	C	7: 84,242,420 (GRCm39)	D296G	probably damaging	Het
Fam83g	A	G	11: 61,593,504 (GRCm39)	N346S	probably damaging	Het
Fgl1	T	A	8: 41,644,638 (GRCm39)	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,661,431 (GRCm39)	L284R	probably damaging	Het
Frem3	T	A	8: 81,395,430 (GRCm39)	M1819K	probably benign	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,268,852 (GRCm39)	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,723,955 (GRCm39)	Y638H	probably damaging	Het
Gp2	T	A	7: 119,050,853 (GRCm39)	I293F	probably benign	Het
Gpi1	T	C	7: 33,929,580 (GRCm39)	N20S	probably benign	Het
Gxylt1	C	T	15: 93,152,273 (GRCm39)	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091 (GRCm39)	K382E	possibly damaging	Het
Hook3	T	A	8: 26,528,134 (GRCm39)	E585D	probably damaging	Het
Irf6	G	A	1: 192,851,613 (GRCm39)	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Lactb	T	A	9: 66,878,201 (GRCm39)	R209S	probably damaging	Het
Lonp2	A	G	8: 87,368,212 (GRCm39)	D342G	probably damaging	Het
Mmachc	T	C	4: 116,563,194 (GRCm39)	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977 (GRCm39)	W573C	probably damaging	Het
Or13e8	T	A	4: 43,697,011 (GRCm39)	H54L	possibly damaging	Het
Or5w1b	T	A	2: 87,476,182 (GRCm39)	Y95F	probably benign	Het
Or6b2b	A	T	1: 92,418,610 (GRCm39)	I289N	probably damaging	Het
Pappa2	A	T	1: 158,764,124 (GRCm39)	D462E	probably benign	Het
Pcdh12	A	T	18: 38,416,496 (GRCm39)	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,487,443 (GRCm39)		probably null	Het
Prkce	T	A	17: 86,803,446 (GRCm39)	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,175,584 (GRCm39)	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,236,809 (GRCm39)	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568 (GRCm39)	C625S	probably benign	Het
Shcbp1	T	G	8: 4,791,968 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,196,143 (GRCm39)	C449*	probably null	Het
Stpg3	T	C	2: 25,103,862 (GRCm39)	D158G	probably damaging	Het
Sycp2	T	C	2: 177,989,590 (GRCm39)	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,043,359 (GRCm39)	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,640,631 (GRCm39)	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982 (GRCm39)	V434A	probably benign	Het
Usp11	A	G	X: 20,584,946 (GRCm39)	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,513,387 (GRCm39)	I419L	probably benign	Het
Wfs1	C	A	5: 37,139,422 (GRCm39)	R72L	possibly damaging	Het
Zan	T	C	5: 137,426,201 (GRCm39)	D2525G	unknown	Het
Zfp280c	A	G	X: 47,652,715 (GRCm39)	V285A	probably benign	Het
Zfp511	T	A	7: 139,617,528 (GRCm39)	F177I	probably damaging	Het
Zfp964	A	G	8: 70,115,720 (GRCm39)	M107V	unknown	Het
Zmynd11	A	G	13: 9,760,256 (GRCm39)	Y122H	probably damaging	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
R1611:Actr6	UTSW	10	89,568,064 (GRCm39)	nonsense	probably null
R4271:Actr6	UTSW	10	89,553,101 (GRCm39)	missense	probably benign	0.10
R4492:Actr6	UTSW	10	89,561,676 (GRCm39)	missense	probably benign	0.01
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'- GATCTGTACTGCCCTTAGTTTCCAACC -3'
(R):5'- ctgaaccatcttgccCTTAATCTCATGT -3'

Sequencing Primer
(F):5'- ctcagttctacacagcaagttc -3'
(R):5'- gaggcagaggcaggtgg -3'

Posted On

2014-03-14