Mutagenetix > Incidental Mutations

Incidental Mutation 'R0321:Armc8'

35867

Institutional Source

Beutler Lab

Gene Symbol

Armc8

Ensembl Gene

ENSMUSG00000032468

Gene Name

armadillo repeat containing 8

Synonyms

1200015K23Rik, HSPC056, Gid5

MMRRC Submission

038531-MU

Accession Numbers

Genbank: NM_028768; MGI: 1921375

Is this an essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

R0321 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

99478372-99568899 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99533177 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 150 (I150K)

Ref Sequence

ENSEMBL: ENSMUSP00000139973 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035043
AA Change: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: I150K

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 damaging
Transcript: ENSMUST00000185524
AA Change: I150K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139973
Gene: ENSMUSG00000032468
AA Change: I150K

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

possibly damaging
Transcript: ENSMUST00000186049
AA Change: I108K

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140426
Gene: ENSMUSG00000032468
AA Change: I108K

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

Meta Mutation Damage Score

0.3739

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

Allele List at MGI

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

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,700	T353A	probably benign	Het
4932438A13Rik	T	C	3: 36,906,788		probably null	Het
4933402N03Rik	T	A	7: 131,146,227	Y12F	probably benign	Het
Acbd3	T	G	1: 180,752,305	F505V	probably damaging	Het
Acod1	T	C	14: 103,055,129	V363A	probably benign	Het
Adam28	T	C	14: 68,617,751	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,135,244	L296F	probably damaging	Het
Ap1b1	G	A	11: 5,032,464	A588T	probably benign	Het
Bahcc1	T	C	11: 120,273,425		probably null	Het
Carmil3	C	A	14: 55,502,241	D928E	possibly damaging	Het
Ccrl2	T	C	9: 111,056,211	N73S	probably damaging	Het
Cdk9	C	A	2: 32,712,686		probably benign	Het
Cel	G	T	2: 28,561,148	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 25,155,566		noncoding transcript	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dlg1	T	C	16: 31,858,036	V801A	probably damaging	Het
Dnah10	A	G	5: 124,823,352	D3834G	probably benign	Het
Dnajc15	C	T	14: 77,874,833	A23T	possibly damaging	Het
Ell2	T	A	13: 75,761,888	L119Q	probably damaging	Het
Epha2	T	C	4: 141,308,405	W51R	probably damaging	Het
F10	T	C	8: 13,053,413	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,970,667	N61S	probably benign	Het
Fam83c	C	T	2: 155,829,700	S605N	probably benign	Het
Fbxw15	C	T	9: 109,565,385	V121I	probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gfi1b	A	G	2: 28,613,885	F101S	probably damaging	Het
Gimap5	C	G	6: 48,750,515		probably benign	Het
Gpr180	T	C	14: 118,148,287		probably null	Het
Gsn	T	C	2: 35,290,396	F188L	probably benign	Het
Hivep3	T	A	4: 120,095,591	I368N	possibly damaging	Het
Itih3	T	A	14: 30,912,106	I153F	probably damaging	Het
Kdm8	A	T	7: 125,461,006	Q360L	probably damaging	Het
Lars	T	C	18: 42,202,632	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,433,258	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,790,043	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,326,938		probably benign	Het
Mtcl1	T	A	17: 66,379,431	T827S	probably damaging	Het
Muc5b	T	C	7: 141,862,235	S2973P	probably benign	Het
Mynn	T	C	3: 30,607,557	S263P	probably benign	Het
Myo1f	A	C	17: 33,593,012	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083	I288N	probably damaging	Het
Nutm2	T	G	13: 50,472,955	M382R	probably damaging	Het
Oprm1	T	C	10: 6,829,183	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,444,694	S619P	probably benign	Het
Phkg1	A	T	5: 129,869,524	M1K	probably null	Het
Pigc	C	T	1: 161,971,099	Q217*	probably null	Het
Pik3r4	T	A	9: 105,648,707	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,222,112		probably benign	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prtg	A	T	9: 72,848,025	I259F	possibly damaging	Het
Prune2	T	G	19: 17,120,927	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,122,454	A1774V	probably benign	Het
Rcn3	A	G	7: 45,088,715		probably benign	Het
Rnf213	C	T	11: 119,438,105	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,150,742		probably benign	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Smpdl3b	A	T	4: 132,741,444	V154E	probably damaging	Het
Spag17	T	C	3: 100,101,403	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,484,302	T131A	probably benign	Het
Tatdn2	T	G	6: 113,709,501	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,339,594	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,844,857	C623*	probably null	Het
Tprgl	T	C	4: 154,159,355	N115D	probably damaging	Het
Ube2t	C	T	1: 134,967,800	A4V	possibly damaging	Het
Vps41	G	A	13: 18,842,295		probably benign	Het
Wdr17	C	T	8: 54,696,268		probably null	Het
Wwc1	G	A	11: 35,841,810	Q1024*	probably null	Het
Zfand5	T	A	19: 21,276,515	N27K	probably damaging	Het
Zfp142	A	T	1: 74,569,714	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,492,534	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,826,027	G400S	probably benign	Het
Zswim3	C	T	2: 164,820,359	A253V	possibly 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
Scrambler	UTSW	9	99496149	critical splice donor site	probably null
D4043:Armc8	UTSW	9	99483976	missense	probably benign	0.13
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
R5694: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
R7937:Armc8	UTSW	9	99536219	missense	probably damaging	0.98
R8130:Armc8	UTSW	9	99551547	missense	probably benign	0.02
R8373:Armc8	UTSW	9	99527099	missense	probably benign	0.02
Z1177:Armc8	UTSW	9	99497386	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCTTCAACAATCAGCTCTGTTCC -3'
(R):5'- CATTGCTTGTGTTTAAGTCACCCCG -3'

Sequencing Primer
(F):5'- TCAGCTCTGTTCCATGAGAAGAC -3'
(R):5'- ggagagatggttcagcaattaag -3'

Posted On

2013-05-09