Mutagenetix > Incidental Mutations

Incidental Mutation 'R6443:Actr6'

519094

Institutional Source

Beutler Lab

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

ArpX, Arp6, CDA12, 2010200J04Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6443 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89711971-89732295 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89714871 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 354 (N354D)

Ref Sequence

ENSEMBL: ENSMUSP00000020109 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020109
AA Change: N354D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: N354D

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357	L27P	probably damaging	Het
Apbb1	T	A	7: 105,573,763	N214Y	probably damaging	Het
Bcar1	A	T	8: 111,715,338	V290E	probably damaging	Het
Ces1f	T	A	8: 93,275,365	Q45L	probably benign	Het
Ctss	A	C	3: 95,546,803	K221T	probably benign	Het
Dclre1b	T	A	3: 103,803,188	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,878,051	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,771,885	I3301V	probably benign	Het
Ephb4	G	A	5: 137,360,449	G298E	probably damaging	Het
Eya3	T	C	4: 132,711,927	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,429,279	A112D	probably damaging	Het
Glud1	T	C	14: 34,339,927	M468T	probably benign	Het
Gm5114	C	A	7: 39,407,717	R826L	possibly damaging	Het
Gramd3	G	A	18: 56,485,385	V222I	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Lpin2	T	C	17: 71,241,668	S576P	probably benign	Het
Lrrc1	A	G	9: 77,434,032	F415L	probably damaging	Het
Mtmr3	A	T	11: 4,487,358	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,710,430	T75M	probably damaging	Het
Nwd1	G	A	8: 72,662,366	V141I	possibly damaging	Het
Olfr1019	T	G	2: 85,841,635	D52A	probably damaging	Het
Olfr22-ps1	A	T	11: 73,955,092	Q134L	probably benign	Het
Olfr807	C	A	10: 129,755,408	G14V	probably damaging	Het
Pla1a	T	C	16: 38,409,587		probably null	Het
Ppp1r36	A	G	12: 76,417,639	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	A	T	7: 29,077,078	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,675,933	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 77,023,201	K526E	probably benign	Het
Slc9a8	G	A	2: 167,434,821	R78H	probably benign	Het
Sptbn1	T	C	11: 30,139,429	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,625,254		probably null	Het
Tcf7	G	T	11: 52,253,938	T286N	probably benign	Het
Txndc5	A	G	13: 38,528,203	M69T	possibly damaging	Het
Usp48	T	A	4: 137,613,763	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,104,953	I745K	possibly damaging	Het
Zfp354b	A	G	11: 50,922,754	I448T	possibly damaging	Het
Zfp523	A	T	17: 28,201,407	T189S	probably damaging	Het

Other mutations in Actr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Actr6	APN	10	89725841	missense	probably damaging	0.99
IGL01420:Actr6	APN	10	89725165	unclassified	probably benign
IGL02387:Actr6	APN	10	89714984	missense	probably damaging	1.00
IGL03073:Actr6	APN	10	89726694	missense	probably damaging	1.00
Exalt	UTSW	10	89732202	nonsense	probably null
R0145:Actr6	UTSW	10	89728178	nonsense	probably null
R1413:Actr6	UTSW	10	89728157	nonsense	probably null
R1611:Actr6	UTSW	10	89732202	nonsense	probably null
R4271:Actr6	UTSW	10	89717239	missense	probably benign	0.10
R4492:Actr6	UTSW	10	89725814	missense	probably benign	0.01
R4913:Actr6	UTSW	10	89714946	missense	probably benign	0.09
R4976:Actr6	UTSW	10	89725855	missense	probably damaging	1.00
R5119:Actr6	UTSW	10	89725855	missense	probably damaging	1.00
R5767:Actr6	UTSW	10	89726755	missense	probably damaging	0.99
R5946:Actr6	UTSW	10	89728192	missense	probably benign	0.00
R6913:Actr6	UTSW	10	89726696	missense	probably damaging	1.00
R7196:Actr6	UTSW	10	89714922	missense	possibly damaging	0.89
R7201:Actr6	UTSW	10	89712512	missense	probably benign	0.10
R7585:Actr6	UTSW	10	89725796	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGCTTGGCACCTTACATG -3'
(R):5'- TGAGTCTTTCCAGAGACAAGTAG -3'

Sequencing Primer
(F):5'- GCACCTTACATGCCAGCTC -3'
(R):5'- CCAGAGACAAGTAGATTTTCTAACGC -3'

Posted On

2018-05-24