Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Actr8'

84581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actr8

Ensembl Gene

ENSMUSG00000015971

Gene Name

ARP8 actin-related protein 8

Synonyms

5730542K05Rik, ARP8

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

29978337-30006354 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29990970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153076 (fasta)

Gene Model

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

noncoding transcript
Transcript: ENSMUST00000198991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224067

Predicted Effect

probably null
Transcript: ENSMUST00000224797

Predicted Effect

probably null
Transcript: ENSMUST00000224797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225368

Predicted Effect

probably benign
Transcript: ENSMUST00000225811

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tle4	A	G	19: 14,465,340	S339P	probably benign	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably 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
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
R6155:Actr8	UTSW	14	29978589	critical splice donor site	probably null
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
R9484:Actr8	UTSW	14	29986344	missense	probably benign	0.19
Z1177:Actr8	UTSW	14	29986401	missense	probably damaging	1.00
Z1177:Actr8	UTSW	14	29987242	missense	probably damaging	0.99

Posted On

2013-11-11