Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01420:Actr6'

80419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Actr6

Ensembl Gene

ENSMUSG00000019948

Gene Name

ARP6 actin-related protein 6

Synonyms

CDA12, ArpX, 2010200J04Rik, Arp6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01420

Quality Score

Status

Chromosome

Chromosomal Location

89547833-89568157 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 89561027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020109] [ENSMUST00000220388]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020109

SMART Domains

Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948

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 benign
Transcript: ENSMUST00000220388

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,920,637 (GRCm39)		probably benign	Het
Adamts3	A	T	5: 89,850,916 (GRCm39)	M541K	possibly damaging	Het
Adgre4	T	C	17: 56,106,785 (GRCm39)		probably benign	Het
Anxa6	T	C	11: 54,883,189 (GRCm39)	Y481C	probably damaging	Het
Apbb1ip	A	T	2: 22,748,292 (GRCm39)	I371F	possibly damaging	Het
Arhgef10l	T	C	4: 140,297,649 (GRCm39)	D261G	probably damaging	Het
Bche	T	C	3: 73,609,342 (GRCm39)	H28R	probably benign	Het
C2cd3	T	C	7: 100,104,065 (GRCm39)	V2026A	probably benign	Het
Cacna1d	C	T	14: 29,773,595 (GRCm39)	V1697I	probably benign	Het
Celsr2	T	C	3: 108,301,079 (GRCm39)	H2738R	probably benign	Het
Celsr3	A	G	9: 108,718,389 (GRCm39)		probably null	Het
Cep152	A	T	2: 125,405,572 (GRCm39)	D1653E	possibly damaging	Het
Cfap57	T	A	4: 118,470,137 (GRCm39)	I248F	probably benign	Het
Clcnka	C	A	4: 141,116,643 (GRCm39)	R536L	probably benign	Het
Dao	T	A	5: 114,161,881 (GRCm39)		probably benign	Het
Dnajc10	T	C	2: 80,175,367 (GRCm39)	S585P	possibly damaging	Het
Dysf	C	T	6: 84,126,741 (GRCm39)	Q1333*	probably null	Het
Eps8l2	T	A	7: 140,937,576 (GRCm39)	S397T	probably benign	Het
Fap	A	G	2: 62,334,846 (GRCm39)		probably benign	Het
Fbf1	T	C	11: 116,036,822 (GRCm39)	T971A	probably benign	Het
Fbxl17	C	T	17: 63,692,047 (GRCm39)	V22M	probably damaging	Het
Fcgbpl1	T	A	7: 27,839,558 (GRCm39)	M457K	probably benign	Het
Fundc2	T	C	X: 74,434,471 (GRCm39)		probably benign	Het
Heyl	C	A	4: 123,133,967 (GRCm39)	Q42K	probably damaging	Het
Hyal4	A	G	6: 24,755,871 (GRCm39)	K30E	probably benign	Het
Igsf10	T	C	3: 59,227,071 (GRCm39)	I2201V	probably benign	Het
Il34	T	C	8: 111,469,345 (GRCm39)	K157E	probably damaging	Het
Kcnj13	T	C	1: 87,316,766 (GRCm39)	T116A	probably damaging	Het
Lpl	T	C	8: 69,340,085 (GRCm39)		probably benign	Het
Mcm6	A	G	1: 128,273,612 (GRCm39)	L406P	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Nadk2	T	C	15: 9,103,072 (GRCm39)	S308P	probably damaging	Het
Nae1	G	T	8: 105,249,797 (GRCm39)	Q225K	probably benign	Het
Ncoa6	G	A	2: 155,249,507 (GRCm39)	P1266S	probably damaging	Het
Neb	A	G	2: 52,047,389 (GRCm39)	Y6485H	probably damaging	Het
Nin	G	A	12: 70,092,188 (GRCm39)	A707V	probably benign	Het
Nmur1	T	C	1: 86,315,113 (GRCm39)	T218A	probably benign	Het
Npr3	T	C	15: 11,858,718 (GRCm39)	N135D	probably damaging	Het
Nup107	A	T	10: 117,620,926 (GRCm39)	L142Q	probably damaging	Het
Pdgfc	T	A	3: 81,048,750 (GRCm39)	S53T	probably benign	Het
Plxdc2	T	A	2: 16,654,950 (GRCm39)	V232D	probably damaging	Het
Pou2f2	T	C	7: 24,792,377 (GRCm39)	N493D	possibly damaging	Het
Rtel1	T	C	2: 180,996,194 (GRCm39)	I750T	probably benign	Het
Sbk1	A	G	7: 125,891,184 (GRCm39)		probably null	Het
Sec24d	A	G	3: 123,143,658 (GRCm39)	N603S	probably benign	Het
Slc38a10	T	A	11: 119,997,286 (GRCm39)	E736V	probably damaging	Het
Smc6	A	G	12: 11,341,659 (GRCm39)	Y559C	probably benign	Het
Sprr4	A	T	3: 92,407,691 (GRCm39)	V37E	unknown	Het
Sptbn2	A	G	19: 4,784,153 (GRCm39)	T632A	probably benign	Het
Trim31	A	G	17: 37,209,303 (GRCm39)	M20V	probably benign	Het
Trim65	C	A	11: 116,017,335 (GRCm39)	V376L	probably damaging	Het
Ttn	T	C	2: 76,542,420 (GRCm39)	D25195G	probably damaging	Het
Tysnd1	A	G	10: 61,537,830 (GRCm39)	T503A	possibly damaging	Het
Vtn	A	T	11: 78,390,200 (GRCm39)	I9L	probably benign	Het
Zfp398	A	G	6: 47,842,868 (GRCm39)	M175V	probably benign	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
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
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

Posted On

2013-11-05