Mutagenetix > Incidental Mutations

Incidental Mutation 'R5694:Armc8'

443827

Institutional Source

Beutler Lab

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, HSPC056, Gid5

MMRRC Submission

043325-MU

Accession Numbers

Genbank: NM_028768; MGI: 1921375

Is this an essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99478372-99568899 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 99496149 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035043 (fasta)

Gene Model

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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,600,947	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,395,718		probably benign	Het
Adamts14	A	T	10: 61,229,652	M356K	probably benign	Het
Adamtsl2	A	G	2: 27,081,724	H7R	probably benign	Het
Angptl2	T	C	2: 33,228,616	V134A	probably damaging	Het
Astn2	T	C	4: 65,950,138	D488G	probably damaging	Het
Cat	A	T	2: 103,472,994	V146E	probably damaging	Het
Dmxl1	T	C	18: 49,894,257	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,188,875	D15A	probably benign	Het
Epha10	C	T	4: 124,902,653	A385V	unknown	Het
Erg	C	A	16: 95,361,031	E388D	probably benign	Het
Fam126a	C	A	5: 23,991,796	L31F	probably damaging	Het
Fbxo10	T	A	4: 45,035,970	I931F	probably damaging	Het
Frem1	A	G	4: 82,994,116	L673P	probably damaging	Het
Gm4922	A	C	10: 18,784,287	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,414,486	D153E	probably benign	Het
Htr7	T	C	19: 36,057,121	M45V	probably benign	Het
Igkv4-51	C	T	6: 69,681,927	V5M	probably damaging	Het
Ints7	G	A	1: 191,586,618	E156K	probably damaging	Het
Map3k21	A	G	8: 125,944,768	T932A	probably benign	Het
Mapk1	T	G	16: 17,018,469	D160E	probably benign	Het
Mast4	A	T	13: 102,774,193	Y479*	probably null	Het
Meig1	T	A	2: 3,411,962	K7N	probably damaging	Het
Mthfd1l	T	A	10: 4,035,239	D548E	possibly damaging	Het
Myo16	A	G	8: 10,569,606	R1386G	probably benign	Het
Nphs2	T	C	1: 156,326,037	S353P	probably benign	Het
Olfr533	T	C	7: 140,466,731	F177L	probably benign	Het
Olfr906	T	A	9: 38,488,236	I69K	probably damaging	Het
Pcdha9	G	T	18: 36,998,372	V165L	probably benign	Het
Pde3a	T	A	6: 141,250,502	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,125	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Rab44	T	C	17: 29,140,500	L554P	probably damaging	Het
Rab44	T	A	17: 29,145,966	M645K	unknown	Het
Rnf222	A	G	11: 68,892,897	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,918,941	S522P	probably benign	Het
Serinc5	A	G	13: 92,688,794	I244V	probably benign	Het
Serpinb10	A	T	1: 107,535,457		probably null	Het
Siglech	T	A	7: 55,768,656	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,484,127	I790L	probably benign	Het
Sos2	C	A	12: 69,590,915	R1007S	probably damaging	Het
Stk4	C	T	2: 164,100,564	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,184,964	L366H	probably damaging	Het
Tor4a	T	C	2: 25,194,920	T324A	probably benign	Het
Trim12a	C	A	7: 104,307,243	C30F	probably damaging	Het
Ttll3	G	A	6: 113,399,708	V350M	probably damaging	Het
Uggt1	A	T	1: 36,179,656	D63E	probably damaging	Het
Unc5b	G	A	10: 60,773,747	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Wls	A	C	3: 159,839,987	I16L	probably benign	Het
Zfp101	T	C	17: 33,380,945	I612M	probably benign	Het
Zfp677	C	A	17: 21,397,759	D359E	probably damaging	Het

Other mutations in Armc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Armc8	APN	9	99505734	critical splice acceptor site	probably null
IGL00951:Armc8	APN	9	99505704	missense	probably benign	0.00
IGL01776:Armc8	APN	9	99526883	splice site	probably benign
IGL02215:Armc8	APN	9	99483978	missense	possibly damaging	0.92
IGL02244:Armc8	APN	9	99483174	missense	probably benign	0.10
IGL02610:Armc8	APN	9	99527069	splice site	probably benign
IGL02612:Armc8	APN	9	99527069	splice site	probably benign
IGL02615:Armc8	APN	9	99527069	splice site	probably benign
IGL02619:Armc8	APN	9	99527069	splice site	probably benign
IGL02621:Armc8	APN	9	99527069	splice site	probably benign
IGL02622:Armc8	APN	9	99527069	splice site	probably benign
IGL02623:Armc8	APN	9	99527069	splice site	probably benign
IGL02624:Armc8	APN	9	99527069	splice site	probably benign
D4043:Armc8	UTSW	9	99483976	missense	probably benign	0.13
R0321:Armc8	UTSW	9	99533177	missense	probably damaging	0.99
R0498:Armc8	UTSW	9	99497292	missense	probably damaging	1.00
R0646:Armc8	UTSW	9	99505688	missense	probably damaging	1.00
R0658:Armc8	UTSW	9	99536158	splice site	probably benign
R1061:Armc8	UTSW	9	99537731	missense	probably damaging	1.00
R1406:Armc8	UTSW	9	99523248	missense	probably benign	0.37
R1406:Armc8	UTSW	9	99523248	missense	probably benign	0.37
R1429:Armc8	UTSW	9	99536207	missense	possibly damaging	0.67
R1432:Armc8	UTSW	9	99523132	splice site	probably benign
R1538:Armc8	UTSW	9	99505290	missense	probably damaging	0.96
R1606:Armc8	UTSW	9	99537729	missense	probably damaging	0.98
R1817:Armc8	UTSW	9	99536259	missense	possibly damaging	0.67
R1866:Armc8	UTSW	9	99536280	missense	probably benign
R2015:Armc8	UTSW	9	99483105	nonsense	probably null
R2143:Armc8	UTSW	9	99505308	missense	probably damaging	0.99
R2251:Armc8	UTSW	9	99502600	critical splice acceptor site	probably null
R2842:Armc8	UTSW	9	99505681	missense	probably benign
R3010:Armc8	UTSW	9	99487913	missense	probably benign	0.06
R3709:Armc8	UTSW	9	99520497	missense	probably damaging	1.00
R4440:Armc8	UTSW	9	99484034	missense	probably benign	0.37
R4865:Armc8	UTSW	9	99526889	critical splice donor site	probably null
R5492:Armc8	UTSW	9	99527131	nonsense	probably null
R5606:Armc8	UTSW	9	99536262	missense	probably benign	0.23
R5639:Armc8	UTSW	9	99496149	critical splice donor site	probably null
R5693:Armc8	UTSW	9	99496149	critical splice donor site	probably null
R5698:Armc8	UTSW	9	99535820	missense	probably benign	0.12
R5700:Armc8	UTSW	9	99496149	critical splice donor site	probably null
R5701:Armc8	UTSW	9	99496149	critical splice donor site	probably null
R5735:Armc8	UTSW	9	99497394	critical splice acceptor site	probably null
R6314:Armc8	UTSW	9	99535884	missense	probably benign	0.28
R7034:Armc8	UTSW	9	99483965	critical splice donor site	probably null
R7036:Armc8	UTSW	9	99483965	critical splice donor site	probably null
R7393:Armc8	UTSW	9	99483999	missense	possibly damaging	0.47
R7395:Armc8	UTSW	9	99533132	missense	probably damaging	0.99
Z1177:Armc8	UTSW	9	99497386	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGAGATGGGTCAGTACATG -3'
(R):5'- AGATCTTGATCAGCTGCATGAG -3'

Sequencing Primer
(F):5'- AGATGGGTCAGTACATGTGGCATG -3'
(R):5'- TGATCAGCTGCATGAGACCCTC -3'

Posted On

2016-11-09