Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00951:Armc8'

28208

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 #

IGL00951

Quality Score

Status

Chromosome

Chromosomal Location

99360425-99450952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99387757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 388 (R388L)

Ref Sequence

ENSEMBL: ENSMUSP00000035043 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035043
AA Change: R388L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: R388L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcan	T	C	3: 87,901,481 (GRCm39)	E407G	probably damaging	Het
Brms1l	A	G	12: 55,912,834 (GRCm39)	I276V	possibly damaging	Het
Brpf1	C	A	6: 113,299,514 (GRCm39)	D1182E	probably damaging	Het
Clpb	A	G	7: 101,400,467 (GRCm39)	M268V	probably benign	Het
Cpne8	A	T	15: 90,486,096 (GRCm39)		probably benign	Het
Ddx25	A	T	9: 35,464,131 (GRCm39)		probably null	Het
Dgki	A	G	6: 36,977,094 (GRCm39)	M672T	probably damaging	Het
Fhdc1	T	C	3: 84,371,620 (GRCm39)	T112A	possibly damaging	Het
Galnt7	A	T	8: 58,036,858 (GRCm39)	M177K	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hp	T	C	8: 110,304,129 (GRCm39)	D24G	possibly damaging	Het
Jak2	A	G	19: 29,276,983 (GRCm39)	R847G	probably damaging	Het
Lama2	A	T	10: 26,906,281 (GRCm39)	D2391E	probably benign	Het
Mpzl1	A	G	1: 165,433,391 (GRCm39)	F87L	probably damaging	Het
Ms4a4d	A	T	19: 11,532,285 (GRCm39)	I144F	probably benign	Het
Or5h18	G	A	16: 58,848,216 (GRCm39)	T18I	probably benign	Het
Or5h23	A	C	16: 58,906,756 (GRCm39)	L30R	possibly damaging	Het
Or5i1	A	T	2: 87,612,883 (GRCm39)	I2F	probably benign	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Or6d14	G	A	6: 116,534,027 (GRCm39)	V214I	probably benign	Het
Prr16	A	G	18: 51,436,411 (GRCm39)	R297G	probably damaging	Het
Ralgps1	A	C	2: 33,163,614 (GRCm39)	L148V	probably damaging	Het
Rara	A	G	11: 98,858,992 (GRCm39)	D150G	probably benign	Het
Rb1	A	T	14: 73,559,512 (GRCm39)	V64D	probably damaging	Het
Ros1	A	G	10: 52,019,348 (GRCm39)	Y742H	probably damaging	Het
Rpl7a	A	G	2: 26,802,441 (GRCm39)	D160G	possibly damaging	Het
Sdccag8	A	G	1: 176,705,568 (GRCm39)	M461V	possibly damaging	Het
Tagln	T	A	9: 45,842,170 (GRCm39)	N141I	probably benign	Het
Tas2r140	A	T	6: 40,468,913 (GRCm39)	R248*	probably null	Het
Ube2j2	C	T	4: 156,030,834 (GRCm39)		probably benign	Het
Ulk1	A	G	5: 110,940,270 (GRCm39)	C384R	possibly damaging	Het
Ush2a	A	T	1: 187,995,662 (GRCm39)	E144D	probably benign	Het
Vkorc1l1	C	T	5: 130,011,108 (GRCm39)	T144I	probably benign	Het
Zfp235	T	C	7: 23,836,505 (GRCm39)	F17S	probably damaging	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
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
IGL02624: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

2013-04-17