Mutagenetix > Incidental Mutations

Incidental Mutation 'R6155:Actr8'

489540

Institutional Source

Beutler Lab

Gene Symbol

Actr8

Ensembl Gene

ENSMUSG00000015971

Gene Name

ARP8 actin-related protein 8

Synonyms

5730542K05Rik, ARP8

MMRRC Submission

044302-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6155 (G1)

Quality Score

162.009

Status

Not validated

Chromosome

Chromosomal Location

29978337-30006354 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 29978589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016115] [ENSMUST00000112268] [ENSMUST00000223998] [ENSMUST00000224797] [ENSMUST00000225811]

AlphaFold

Q8R2S9

Predicted Effect

probably null
Transcript: ENSMUST00000016115

SMART Domains

Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971

Domain	Start	End	E-Value	Type
low complexity region	5	27	N/A	INTRINSIC
ACTIN	46	621	3.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112268

SMART Domains

Protein: ENSMUSP00000107887
Gene: ENSMUSG00000042682

Domain	Start	End	E-Value	Type
Pfam:DUF2763	2	91	6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133229

Predicted Effect

probably benign
Transcript: ENSMUST00000223998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224343

Predicted Effect

probably null
Transcript: ENSMUST00000224797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225793

Predicted Effect

probably benign
Transcript: ENSMUST00000225811

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,963,644	Y319C	probably benign	Het
Actn4	A	C	7: 28,896,141	I763S	probably damaging	Het
Adrb1	T	C	19: 56,722,904	L178P	probably damaging	Het
Afap1	A	G	5: 35,935,609	Y19C	unknown	Het
Ankrd36	A	G	11: 5,687,442	E1337G	probably benign	Het
Arl4a	A	C	12: 40,036,520	V76G	probably damaging	Het
B230118H07Rik	A	T	2: 101,576,010		probably null	Het
Bmp1	A	T	14: 70,508,007	I246K	probably damaging	Het
Camk4	A	T	18: 32,939,447	T18S	unknown	Het
Cep152	T	C	2: 125,581,700	H927R	probably benign	Het
Clca3a2	A	G	3: 144,819,357	I38T	probably damaging	Het
Clec2g	A	C	6: 128,980,273	T54P	probably damaging	Het
Cox20	A	G	1: 178,321,797	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,753,017	H407Q	probably benign	Het
Csmd1	T	C	8: 15,903,231	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,910,359	H700Q	probably null	Het
Dnah10	G	A	5: 124,770,599	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,785,175	T2165A	probably damaging	Het
Dock2	C	G	11: 34,294,123	M1072I	probably benign	Het
F11	T	A	8: 45,252,082	T141S	probably damaging	Het
Gabra6	T	A	11: 42,316,523	I245F	probably damaging	Het
Gm13101	T	A	4: 143,965,142	H337L	probably benign	Het
Gm8909	G	A	17: 36,167,507	A211V	possibly damaging	Het
Herc1	T	A	9: 66,433,423	C1685S	possibly damaging	Het
Il20	G	T	1: 130,910,740	D73E	probably damaging	Het
Ireb2	C	A	9: 54,886,527	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,588,378	I220V	probably benign	Het
Lce1j	T	G	3: 92,789,072	Q133P	unknown	Het
Lgals9	C	T	11: 78,963,505	A287T	probably benign	Het
Lrrc52	A	G	1: 167,466,727		probably benign	Het
Map3k5	A	T	10: 20,118,441	H1027L	probably benign	Het
Morc3	A	G	16: 93,862,425	D407G	possibly damaging	Het
Myom1	T	C	17: 71,108,695		probably null	Het
Ncapg2	T	C	12: 116,438,011	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,407,448	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,431,051	F298I	probably damaging	Het
Npas2	G	A	1: 39,287,476	R14Q	probably damaging	Het
Npas4	C	T	19: 4,986,870	C422Y	probably damaging	Het
Olfr1230	A	G	2: 89,296,421	L283S	probably damaging	Het
Olfr1381	T	A	11: 49,552,584	I279N	possibly damaging	Het
Olfr481	T	C	7: 108,081,286	V164A	probably benign	Het
Olfr749	T	C	14: 50,736,619	D181G	probably benign	Het
Pcdhga4	T	C	18: 37,686,493	I365T	probably damaging	Het
Pear1	T	A	3: 87,759,568	T37S	probably damaging	Het
Pkn2	A	T	3: 142,853,693	F24I	probably benign	Het
Plcb3	G	A	19: 6,966,165	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,730,133		probably null	Het
Psmb3	T	A	11: 97,712,452	F164I	probably damaging	Het
Ptch2	T	A	4: 117,096,908	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,387,781		probably benign	Het
Pusl1	A	G	4: 155,890,548	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,402,501	L35I	probably damaging	Het
Rictor	T	C	15: 6,793,977	L1545P	probably benign	Het
Rtn4r	A	T	16: 18,151,394	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,479,125		probably null	Het
Slc35b3	A	T	13: 38,944,596	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,398,697	V207A	possibly damaging	Het
Sox13	A	G	1: 133,393,267	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,137,403	L999R	probably damaging	Het
Taf4	A	G	2: 179,913,524	V1015A	probably damaging	Het
Top3b	T	C	16: 16,891,509	L687P	probably damaging	Het
Tpp2	T	A	1: 43,956,489	V268E	probably damaging	Het
Ttc6	T	C	12: 57,737,616	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,700,726	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,428,690	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,065,881	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,022,038		probably null	Het
Zzz3	A	G	3: 152,427,682	I126V	possibly damaging	Het

Other mutations in Actr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Actr8	APN	14	29988335	missense	probably damaging	1.00
IGL01449:Actr8	APN	14	29990970	critical splice donor site	probably null
IGL01577:Actr8	APN	14	29987275	missense	probably benign
IGL02118:Actr8	APN	14	29982771	critical splice donor site	probably null
IGL02647:Actr8	APN	14	29990890	missense	probably damaging	1.00
IGL02659:Actr8	APN	14	29986341	missense	probably damaging	1.00
IGL02696:Actr8	APN	14	29982671	missense	probably benign	0.33
IGL03015:Actr8	APN	14	29986316	missense	possibly damaging	0.81
IGL03335:Actr8	APN	14	29978557	missense	probably benign
R0512:Actr8	UTSW	14	29978556	missense	probably benign	0.00
R0735:Actr8	UTSW	14	29989712	missense	probably benign	0.02
R0926:Actr8	UTSW	14	29987224	missense	probably benign	0.02
R1443:Actr8	UTSW	14	29984099	missense	possibly damaging	0.73
R1470:Actr8	UTSW	14	29986969	missense	possibly damaging	0.90
R1470:Actr8	UTSW	14	29986969	missense	possibly damaging	0.90
R1616:Actr8	UTSW	14	29982644	missense	possibly damaging	0.53
R2097:Actr8	UTSW	14	29987228	missense	probably damaging	0.98
R2240:Actr8	UTSW	14	29989757	missense	possibly damaging	0.94
R2570:Actr8	UTSW	14	29987282	missense	probably damaging	1.00
R5122:Actr8	UTSW	14	29982715	missense	possibly damaging	0.95
R5439:Actr8	UTSW	14	29986995	missense	probably damaging	1.00
R5697:Actr8	UTSW	14	29991673	missense	possibly damaging	0.73
R5727:Actr8	UTSW	14	29990881	missense	probably benign	0.01
R5860:Actr8	UTSW	14	29986285	nonsense	probably null
R5988:Actr8	UTSW	14	29993073	missense	possibly damaging	0.71
R6006:Actr8	UTSW	14	29984142	critical splice donor site	probably null
R6009:Actr8	UTSW	14	29978497	unclassified	probably benign
R6190:Actr8	UTSW	14	29991717	nonsense	probably null
R6329:Actr8	UTSW	14	29993084	nonsense	probably null
R6483:Actr8	UTSW	14	29978581	missense	possibly damaging	0.53
R6517:Actr8	UTSW	14	29982716	nonsense	probably null
R6562:Actr8	UTSW	14	29986454	splice site	probably null
R7484:Actr8	UTSW	14	29992968	missense	probably damaging	1.00
R8190:Actr8	UTSW	14	29984073	missense	possibly damaging	0.66
R8236:Actr8	UTSW	14	29982628	missense	probably damaging	1.00
R8516:Actr8	UTSW	14	29990899	missense	probably benign	0.17
Z1177:Actr8	UTSW	14	29986401	missense	probably damaging	1.00
Z1177:Actr8	UTSW	14	29987242	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAATGGTTCTCCTCTGACTG -3'
(R):5'- CCGTTGCTAAATCGTGACGTC -3'

Sequencing Primer
(F):5'- AATGGTTCTCCTCTGACTGCTGTG -3'
(R):5'- ATCGTGACGTCTTATAGCTGAGACC -3'

Posted On

2017-10-10