Mutagenetix > Incidental Mutation

Incidental Mutation 'R4271:Actr6'

322178

Institutional Source

Beutler Lab

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

CDA12, ArpX, 2010200J04Rik, Arp6

MMRRC Submission

041076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89547833-89568157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89553101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 252 (R252S)

Ref Sequence

ENSEMBL: ENSMUSP00000020109 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020109
AA Change: R252S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: R252S

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	G	2: 103,856,549 (GRCm39)		probably benign	Het
Acp6	T	C	3: 97,073,934 (GRCm39)		probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Ash1l	T	A	3: 88,889,347 (GRCm39)	C409S	probably benign	Het
Aspg	T	C	12: 112,087,629 (GRCm39)	S327P	probably damaging	Het
B430203G13Rik	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	12: 17,974,358 (GRCm39)		noncoding transcript	Het
C1galt1	T	C	6: 7,866,607 (GRCm39)	F151S	probably damaging	Het
C1qtnf6	G	A	15: 78,409,466 (GRCm39)	T127I	probably benign	Het
Ccdc88c	G	T	12: 100,913,478 (GRCm39)	Q516K	probably damaging	Het
Cdh11	T	A	8: 103,391,258 (GRCm39)	D326V	possibly damaging	Het
Cecr2	C	T	6: 120,739,436 (GRCm39)	H1360Y	probably damaging	Het
Cfap70	T	C	14: 20,470,793 (GRCm39)	E484G	probably benign	Het
Chml	G	A	1: 175,515,360 (GRCm39)	T187M	probably benign	Het
Chpt1	C	T	10: 88,317,214 (GRCm39)		probably benign	Het
Cmtr1	T	C	17: 29,916,956 (GRCm39)	S618P	probably benign	Het
Cspg4b	G	T	13: 113,478,904 (GRCm39)	V1483L	possibly damaging	Het
Cyfip1	A	T	7: 55,528,849 (GRCm39)	M244L	probably benign	Het
Dock1	T	C	7: 134,335,783 (GRCm39)	I59T	probably damaging	Het
Duox1	T	C	2: 122,154,856 (GRCm39)	F414L	probably damaging	Het
Gm1110	A	T	9: 26,806,944 (GRCm39)		probably null	Het
Gsap	T	C	5: 21,431,348 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,510 (GRCm39)	Y111C	probably damaging	Het
Hectd4	AGCGGCGGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGGCGGCGG	5: 121,358,567 (GRCm39)		probably benign	Het
Kif12	T	C	4: 63,088,983 (GRCm39)	Q146R	probably benign	Het
Kif26a	C	T	12: 112,139,848 (GRCm39)	S460F	probably damaging	Het
Klhl15	AG	A	X: 93,296,718 (GRCm39)		probably null	Het
Lims1	T	C	10: 58,246,026 (GRCm39)		probably null	Het
Nbr1	T	C	11: 101,458,048 (GRCm39)	Y276H	possibly damaging	Het
Nfe2l3	A	G	6: 51,433,614 (GRCm39)	D242G	probably damaging	Het
Oacyl	T	A	18: 65,871,038 (GRCm39)	L340Q	probably damaging	Het
Or4n4b	A	T	14: 50,535,908 (GRCm39)	I286N	probably damaging	Het
Or5p80	T	A	7: 108,229,560 (GRCm39)	Y120*	probably null	Het
Osbpl5	G	T	7: 143,249,339 (GRCm39)	Y543*	probably null	Het
Polr1a	G	A	6: 71,930,006 (GRCm39)	E898K	probably benign	Het
Pramel51	A	T	12: 88,145,053 (GRCm39)	I91K	probably damaging	Het
Rad54l2	G	A	9: 106,570,825 (GRCm39)	A1165V	probably benign	Het
Rimbp2	T	G	5: 128,896,841 (GRCm39)	N23T	probably benign	Het
Scp2	T	C	4: 107,942,408 (GRCm39)	D306G	probably damaging	Het
Slco4a1	A	G	2: 180,116,003 (GRCm39)	D713G	possibly damaging	Het
Smarca2	T	A	19: 26,698,349 (GRCm39)		probably null	Het
Spem2	T	C	11: 69,708,251 (GRCm39)	Y238C	probably damaging	Het
Srpk2	T	A	5: 23,753,513 (GRCm39)	H80L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,162 (GRCm39)	L365P	probably damaging	Het
Tsnax	T	C	8: 125,759,468 (GRCm39)	L243P	probably damaging	Het
Ttn	A	G	2: 76,731,979 (GRCm39)		probably benign	Het
V1rd19	A	G	7: 23,702,839 (GRCm39)	T102A	probably benign	Het
Vmn2r94	T	C	17: 18,463,940 (GRCm39)	I783M	probably damaging	Het
Zeb1	C	A	18: 5,758,985 (GRCm39)	Q148K	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
R1413:Actr6	UTSW	10	89,564,019 (GRCm39)	nonsense	probably null
R1611:Actr6	UTSW	10	89,568,064 (GRCm39)	nonsense	probably null
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'- GACCATCAACGTACCTTCAGG -3'
(R):5'- GGTGAGATTGCCATAGGAACATTG -3'

Sequencing Primer
(F):5'- CAGGTAGGTTTTGGATTGAATAGAC -3'
(R):5'- TGGAACGCATTATGTAGCCC -3'

Posted On

2015-06-20