Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02624:Armc8'

301009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, Gid5, HSPC056

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

IGL02624

Quality Score

Status

Chromosome

Chromosomal Location

99360425-99450952 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 99409122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035043] [ENSMUST00000185524] [ENSMUST00000186049]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035043

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468

Domain	Start	End	E-Value	Type
ARM	50	92	1.75e0	SMART
ARM	94	134	5.34e0	SMART
ARM	177	217	2.04e1	SMART
ARM	372	413	3.58e1	SMART
Blast:ARM	414	455	7e-17	BLAST
ARM	457	497	3.81e-1	SMART
ARM	500	540	5.43e1	SMART
Blast:ARM	542	585	1e-20	BLAST
Blast:ARM	633	673	1e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000185524

SMART Domains

Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468

Domain	Start	End	E-Value	Type
ARM	50	92	1.75e0	SMART
ARM	94	134	5.34e0	SMART
Blast:ARM	138	176	1e-5	BLAST
ARM	177	217	2.04e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186049

SMART Domains

Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468

Domain	Start	End	E-Value	Type
ARM	8	50	8.5e-3	SMART
ARM	52	92	2.6e-2	SMART
Blast:ARM	96	134	7e-6	BLAST
ARM	135	175	9.8e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,032,004 (GRCm39)	V38A	unknown	Het
Brk1	T	G	6: 113,581,805 (GRCm39)	I22M	possibly damaging	Het
Cd3g	A	G	9: 44,885,459 (GRCm39)		probably null	Het
Cep192	T	C	18: 68,013,866 (GRCm39)	V2422A	probably benign	Het
Ces2g	T	C	8: 105,691,380 (GRCm39)	V172A	probably damaging	Het
Clcn2	G	T	16: 20,522,098 (GRCm39)	S830R	probably damaging	Het
Cyp26b1	T	C	6: 84,561,321 (GRCm39)	S114G	probably benign	Het
Dnali1	T	C	4: 124,952,791 (GRCm39)	Q244R	probably benign	Het
Entpd1	A	T	19: 40,714,502 (GRCm39)	K204*	probably null	Het
Gm5070	A	G	3: 95,318,219 (GRCm39)		noncoding transcript	Het
Gpsm2	G	T	3: 108,589,349 (GRCm39)	D596E	probably benign	Het
Hectd1	C	T	12: 51,809,233 (GRCm39)	A1743T	possibly damaging	Het
Kcnq5	T	G	1: 21,472,654 (GRCm39)	L845F	probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrp1	A	T	10: 127,408,291 (GRCm39)	I1795N	probably damaging	Het
Lsp1	C	T	7: 142,044,288 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,277,185 (GRCm39)	A213T	possibly damaging	Het
Mylk	G	T	16: 34,750,266 (GRCm39)	V1202L	probably benign	Het
Myo5b	T	C	18: 74,848,010 (GRCm39)	Y1083H	probably damaging	Het
Ncoa5	T	A	2: 164,854,981 (GRCm39)	D47V	probably damaging	Het
Npat	C	T	9: 53,478,110 (GRCm39)	T954I	probably damaging	Het
Or2b28	A	G	13: 21,531,682 (GRCm39)	T195A	probably benign	Het
Or5p1	A	T	7: 107,916,130 (GRCm39)	T10S	probably benign	Het
Pfkm	T	C	15: 98,024,276 (GRCm39)	I428T	probably benign	Het
Rai1	T	C	11: 60,079,569 (GRCm39)	F1211S	probably damaging	Het
Reln	T	C	5: 22,308,355 (GRCm39)	E338G	probably benign	Het
Tbx18	T	C	9: 87,609,459 (GRCm39)	Y192C	probably damaging	Het
Tex21	T	A	12: 76,261,398 (GRCm39)	D250V	probably damaging	Het
Tpo	A	G	12: 30,150,413 (GRCm39)	V489A	probably benign	Het
Tspo	T	C	15: 83,455,616 (GRCm39)	M1T	probably null	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnk2	C	T	13: 49,256,278 (GRCm39)	G281D	probably damaging	Het
Zfhx2	T	C	14: 55,304,085 (GRCm39)	T1300A	probably benign	Het

Other mutations in Armc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Armc8	APN	9	99,387,787 (GRCm39)	critical splice acceptor site	probably null
IGL00951:Armc8	APN	9	99,387,757 (GRCm39)	missense	probably benign	0.00
IGL01776:Armc8	APN	9	99,408,936 (GRCm39)	splice site	probably benign
IGL02215:Armc8	APN	9	99,366,031 (GRCm39)	missense	possibly damaging	0.92
IGL02244:Armc8	APN	9	99,365,227 (GRCm39)	missense	probably benign	0.10
IGL02610:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02612:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02615:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02619:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02621:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02622:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
IGL02623:Armc8	APN	9	99,409,122 (GRCm39)	splice site	probably benign
Scrambler	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
warthog	UTSW	9	99,402,538 (GRCm39)	missense	probably benign	0.02
D4043:Armc8	UTSW	9	99,366,029 (GRCm39)	missense	probably benign	0.13
R0321:Armc8	UTSW	9	99,415,230 (GRCm39)	missense	probably damaging	0.99
R0498:Armc8	UTSW	9	99,379,345 (GRCm39)	missense	probably damaging	1.00
R0646:Armc8	UTSW	9	99,387,741 (GRCm39)	missense	probably damaging	1.00
R0658:Armc8	UTSW	9	99,418,211 (GRCm39)	splice site	probably benign
R1061:Armc8	UTSW	9	99,419,784 (GRCm39)	missense	probably damaging	1.00
R1406:Armc8	UTSW	9	99,405,301 (GRCm39)	missense	probably benign	0.37
R1406:Armc8	UTSW	9	99,405,301 (GRCm39)	missense	probably benign	0.37
R1429:Armc8	UTSW	9	99,418,260 (GRCm39)	missense	possibly damaging	0.67
R1432:Armc8	UTSW	9	99,405,185 (GRCm39)	splice site	probably benign
R1538:Armc8	UTSW	9	99,387,343 (GRCm39)	missense	probably damaging	0.96
R1606:Armc8	UTSW	9	99,419,782 (GRCm39)	missense	probably damaging	0.98
R1817:Armc8	UTSW	9	99,418,312 (GRCm39)	missense	possibly damaging	0.67
R1866:Armc8	UTSW	9	99,418,333 (GRCm39)	missense	probably benign
R2015:Armc8	UTSW	9	99,365,158 (GRCm39)	nonsense	probably null
R2143:Armc8	UTSW	9	99,387,361 (GRCm39)	missense	probably damaging	0.99
R2251:Armc8	UTSW	9	99,384,653 (GRCm39)	critical splice acceptor site	probably null
R2842:Armc8	UTSW	9	99,387,734 (GRCm39)	missense	probably benign
R3010:Armc8	UTSW	9	99,369,966 (GRCm39)	missense	probably benign	0.06
R3709:Armc8	UTSW	9	99,402,550 (GRCm39)	missense	probably damaging	1.00
R4440:Armc8	UTSW	9	99,366,087 (GRCm39)	missense	probably benign	0.37
R4865:Armc8	UTSW	9	99,408,942 (GRCm39)	critical splice donor site	probably null
R5492:Armc8	UTSW	9	99,409,184 (GRCm39)	nonsense	probably null
R5606:Armc8	UTSW	9	99,418,315 (GRCm39)	missense	probably benign	0.23
R5639:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5693:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5694:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5698:Armc8	UTSW	9	99,417,873 (GRCm39)	missense	probably benign	0.12
R5700:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5701:Armc8	UTSW	9	99,378,202 (GRCm39)	critical splice donor site	probably null
R5735:Armc8	UTSW	9	99,379,447 (GRCm39)	critical splice acceptor site	probably null
R6314:Armc8	UTSW	9	99,417,937 (GRCm39)	missense	probably benign	0.28
R7034:Armc8	UTSW	9	99,366,018 (GRCm39)	critical splice donor site	probably null
R7036:Armc8	UTSW	9	99,366,018 (GRCm39)	critical splice donor site	probably null
R7393:Armc8	UTSW	9	99,366,052 (GRCm39)	missense	possibly damaging	0.47
R7395:Armc8	UTSW	9	99,415,185 (GRCm39)	missense	probably damaging	0.99
R7937:Armc8	UTSW	9	99,418,272 (GRCm39)	missense	probably damaging	0.98
R8130:Armc8	UTSW	9	99,433,600 (GRCm39)	missense	probably benign	0.02
R8373:Armc8	UTSW	9	99,409,152 (GRCm39)	missense	probably benign	0.02
R8734:Armc8	UTSW	9	99,402,538 (GRCm39)	missense	probably benign	0.02
R9098:Armc8	UTSW	9	99,387,362 (GRCm39)	nonsense	probably null
R9255:Armc8	UTSW	9	99,379,441 (GRCm39)	missense	possibly damaging	0.95
R9358:Armc8	UTSW	9	99,450,653 (GRCm39)	critical splice donor site	probably null
R9463:Armc8	UTSW	9	99,378,203 (GRCm39)	critical splice donor site	probably null
Z1177:Armc8	UTSW	9	99,379,439 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16