Mutagenetix > Incidental Mutation

Incidental Mutation 'R2842:Armc8'

254341

Institutional Source

Beutler Lab

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, Gid5, HSPC056

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

R2842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99360425-99450952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99387734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 396 (S396P)

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: S396P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: S396P

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp2	C	T	9: 31,069,122 (GRCm39)	R569Q	probably benign	Het
Arl8a	T	C	1: 135,082,989 (GRCm39)	S181P	probably damaging	Het
Baz2b	A	G	2: 59,743,348 (GRCm39)	V1541A	probably benign	Het
Crebbp	G	A	16: 3,927,062 (GRCm39)	R628C	probably damaging	Het
Ep400	T	A	5: 110,846,681 (GRCm39)	K295*	probably null	Het
Frem3	T	A	8: 81,395,978 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gprc5b	G	A	7: 118,583,302 (GRCm39)	T189M	possibly damaging	Het
Gucy2g	C	T	19: 55,229,379 (GRCm39)	C97Y	probably damaging	Het
Heatr5a	T	A	12: 52,002,261 (GRCm39)	K225M	probably null	Het
Heatr5a	C	T	12: 52,002,260 (GRCm39)		probably null	Het
Insr	A	G	8: 3,252,986 (GRCm39)	I391T	probably damaging	Het
Lce1e	T	A	3: 92,615,056 (GRCm39)	H97L	unknown	Het
Macf1	A	G	4: 123,270,210 (GRCm39)	V6647A	probably damaging	Het
Mast1	T	C	8: 85,650,537 (GRCm39)	R399G	probably damaging	Het
Mast4	C	A	13: 102,872,939 (GRCm39)	S1951I	probably benign	Het
Mdc1	C	T	17: 36,159,686 (GRCm39)	P648S	probably benign	Het
Mgam	T	C	6: 40,638,279 (GRCm39)	F410L	probably benign	Het
Nr2e1	T	C	10: 42,444,441 (GRCm39)	R223G	probably damaging	Het
Otud7b	G	A	3: 96,043,905 (GRCm39)	E19K	probably damaging	Het
Plce1	T	C	19: 38,512,727 (GRCm39)	S9P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxna4	A	G	6: 32,192,566 (GRCm39)		probably null	Het
Prkag3	T	C	1: 74,780,334 (GRCm39)	I444V	probably benign	Het
Rsph10b	T	G	5: 143,916,710 (GRCm39)	V310G	possibly damaging	Het
Tmem225	T	C	9: 40,061,097 (GRCm39)	Y135H	probably damaging	Het
Tox2	G	A	2: 163,046,550 (GRCm39)		probably benign	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Wfikkn2	G	A	11: 94,129,085 (GRCm39)	T352I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACAGCAAGACACCTCTCGG -3'
(R):5'- CTGCAAAGTGATTGTCGAGAG -3'

Sequencing Primer
(F):5'- AAGACACCTCTCGGGCGTTG -3'
(R):5'- TGTCGAGAGGTAAAATCTTTTGC -3'

Posted On

2014-12-04