Mutagenetix > Incidental Mutation

Incidental Mutation 'R0145:Actr6'

29621

Institutional Source

Beutler Lab

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

CDA12, ArpX, 2010200J04Rik, Arp6

MMRRC Submission

038430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0145 (G1) of strain 722

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

89547833-89568157 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 89564040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 77 (Y77*)

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: Y77*

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: Y77*

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: Y77*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,437,783 (GRCm39)	E64G	probably damaging	Het
Aldoart1	A	T	4: 72,769,576 (GRCm39)	S411T	probably benign	Het
Aqp1	C	T	6: 55,323,672 (GRCm39)	R234C	probably damaging	Het
Arsb	G	A	13: 93,998,795 (GRCm39)	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,586,662 (GRCm39)	A151T	probably damaging	Het
Bcas3	T	C	11: 85,250,436 (GRCm39)		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,906,739 (GRCm39)		probably null	Het
Bst1	A	G	5: 43,976,414 (GRCm39)	Y49C	probably damaging	Het
Btrc	T	A	19: 45,411,612 (GRCm39)	L12Q	probably damaging	Het
Cd248	T	C	19: 5,119,051 (GRCm39)	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,726,076 (GRCm39)		probably benign	Het
Cfap410	T	C	10: 77,819,390 (GRCm39)	S196P	probably benign	Het
Cfap44	A	T	16: 44,288,735 (GRCm39)	D1495V	probably damaging	Het
Chil3	T	A	3: 106,067,794 (GRCm39)	I124F	probably damaging	Het
Cnot2	A	T	10: 116,353,273 (GRCm39)	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,192,783 (GRCm39)	H61N	probably benign	Het
Cpne9	T	C	6: 113,277,562 (GRCm39)	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,946,409 (GRCm39)	G301C	probably damaging	Het
Cubn	T	A	2: 13,311,243 (GRCm39)	D3094V	probably damaging	Het
Cyba	A	T	8: 123,153,977 (GRCm39)	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,705,934 (GRCm39)	S342T	possibly damaging	Het
Daam2	T	C	17: 49,787,806 (GRCm39)	I436V	probably benign	Het
Daglb	T	C	5: 143,460,363 (GRCm39)		probably benign	Het
Dnah7b	T	G	1: 46,262,338 (GRCm39)	L2067R	probably damaging	Het
Ep300	T	C	15: 81,500,328 (GRCm39)		probably null	Het
Esm1	A	G	13: 113,353,230 (GRCm39)	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,814,393 (GRCm39)	E266G	probably damaging	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Hacd3	A	T	9: 64,911,524 (GRCm39)		probably benign	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lct	T	C	1: 128,255,632 (GRCm39)	M137V	probably benign	Het
Lilrb4b	T	G	10: 51,360,614 (GRCm39)	N176K	probably benign	Het
Macf1	T	A	4: 123,281,190 (GRCm39)	H4340L	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,949,994 (GRCm39)	Q315K	probably damaging	Het
Mon2	C	A	10: 122,849,417 (GRCm39)	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,349,012 (GRCm39)	T483A	possibly damaging	Het
Nacc1	T	C	8: 85,401,504 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ngef	A	G	1: 87,468,370 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,085,896 (GRCm39)		probably benign	Het
Or6c8	A	T	10: 128,915,232 (GRCm39)	V200E	probably damaging	Het
Or8i2	A	C	2: 86,852,134 (GRCm39)	Y251*	probably null	Het
Parpbp	T	C	10: 87,928,871 (GRCm39)	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,254,321 (GRCm39)	L555F	probably benign	Het
Pkp3	T	G	7: 140,669,676 (GRCm39)		probably null	Het
Pole	G	T	5: 110,472,291 (GRCm39)	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,156,144 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,374,796 (GRCm39)	T1285A	probably benign	Het
Pus1	C	A	5: 110,922,720 (GRCm39)	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,633,352 (GRCm39)	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,315,868 (GRCm39)	I2196N	probably damaging	Het
Rims3	T	C	4: 120,744,223 (GRCm39)	L151P	probably damaging	Het
Rnf130	A	G	11: 49,962,046 (GRCm39)	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,529,585 (GRCm39)	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,461,441 (GRCm39)	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,358,729 (GRCm39)	I10N	probably damaging	Het
Serpinb6e	A	T	13: 34,025,043 (GRCm39)	S83T	probably benign	Het
Slc12a9	C	A	5: 137,313,550 (GRCm39)	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,685,437 (GRCm39)	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782 (GRCm39)		probably benign	Het
Spart	A	T	3: 55,035,092 (GRCm39)	K493*	probably null	Het
Spata31e2	A	G	1: 26,726,413 (GRCm39)	M32T	probably benign	Het
Sun1	T	C	5: 139,227,166 (GRCm39)	V574A	probably damaging	Het
Supt6	A	G	11: 78,099,062 (GRCm39)	V1603A	probably benign	Het
Tgm5	A	G	2: 120,908,062 (GRCm39)	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,530,518 (GRCm39)		probably benign	Het
Tnfaip2	T	A	12: 111,412,292 (GRCm39)	V231E	possibly damaging	Het
Tube1	T	A	10: 39,021,598 (GRCm39)	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,707,561 (GRCm39)	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,759,015 (GRCm39)	Y296C	probably damaging	Het
Utp4	A	G	8: 107,621,301 (GRCm39)	N26S	probably benign	Het
Vgf	T	A	5: 137,060,336 (GRCm39)		probably benign	Het
Zfat	T	C	15: 68,058,948 (GRCm39)	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,366,048 (GRCm39)	S403I	probably damaging	Het
Zfp462	G	A	4: 55,010,529 (GRCm39)	G832R	probably damaging	Het
Zfp955a	T	A	17: 33,461,430 (GRCm39)	Q234L	probably damaging	Het
Zup1	T	C	10: 33,819,709 (GRCm39)	T202A	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
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
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

2013-04-18