Mutagenetix > Incidental Mutations

Incidental Mutation 'R6654:Armc6'

526557

Institutional Source

Beutler Lab

Gene Symbol

Armc6

Ensembl Gene

ENSMUSG00000002343

Gene Name

armadillo repeat containing 6

Synonyms

2410153K17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R6654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70220172-70234466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70231375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 9 (E9G)

Ref Sequence

ENSEMBL: ENSMUSP00000116811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019679] [ENSMUST00000093458] [ENSMUST00000130319] [ENSMUST00000131489] [ENSMUST00000145078] [ENSMUST00000164403]

AlphaFold

Q8BNU0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019679
AA Change: E9G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019679
Gene: ENSMUSG00000002343
AA Change: E9G

Domain	Start	End	E-Value	Type
Blast:UTG	14	77	2e-26	BLAST
ARM	140	182	8.74e1	SMART
ARM	184	226	3.64e-7	SMART
ARM	237	280	6.01e0	SMART
ARM	281	323	1.13e-3	SMART
ARM	324	366	8.3e-2	SMART
ARM	368	410	1.06e1	SMART
Blast:ARM	438	468	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000093458

SMART Domains

Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130319
AA Change: E9G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116811
Gene: ENSMUSG00000002343
AA Change: E9G

Domain	Start	End	E-Value	Type
Blast:UTG	14	78	8e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000131489

SMART Domains

Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136758

Predicted Effect

probably benign
Transcript: ENSMUST00000145078

SMART Domains

Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
low complexity region	96	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164403

SMART Domains

Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054

Domain	Start	End	E-Value	Type
SWAP	570	622	3.74e-2	SMART
SWAP	768	822	1.12e-14	SMART
low complexity region	859	888	N/A	INTRINSIC
G_patch	994	1040	1.13e-16	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,171,884	M154L	unknown	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Ddc	A	T	11: 11,880,452	I64N	probably damaging	Het
Exd1	T	A	2: 119,524,717		probably null	Het
Gm13757	T	G	2: 88,446,672	T89P	possibly damaging	Het
Gm15922	A	T	7: 3,735,929	S560T	probably benign	Het
Gm4847	C	A	1: 166,630,387	G466C	probably damaging	Het
Gm5431	T	C	11: 48,894,600	D316G	possibly damaging	Het
Gsta4	T	C	9: 78,209,099	F197L	probably damaging	Het
Irs2	A	G	8: 11,006,486	Y649H	probably damaging	Het
Kif16b	T	C	2: 142,701,277		probably benign	Het
Krtap12-1	T	C	10: 77,720,703		probably benign	Het
Ktn1	G	A	14: 47,690,000	S537N	probably damaging	Het
Med12l	G	T	3: 59,262,292	G1626W	probably damaging	Het
Mfng	T	A	15: 78,759,339	T223S	probably damaging	Het
Msh3	T	C	13: 92,345,042	T321A	probably benign	Het
Myo7b	T	C	18: 31,990,269	I672V	possibly damaging	Het
Nbas	C	T	12: 13,483,874	Q1837*	probably null	Het
Nlrc4	G	A	17: 74,445,528	A620V	possibly damaging	Het
Nubpl	T	A	12: 52,310,733	V310E	probably damaging	Het
Olfr1109	A	G	2: 87,093,050	S116P	probably benign	Het
P2ry12	A	G	3: 59,218,020	L78P	probably damaging	Het
Pkd1l3	T	G	8: 109,624,283	S587A	probably benign	Het
Prkacb	A	G	3: 146,750,543	V145A	possibly damaging	Het
Rpgrip1l	T	C	8: 91,220,205	E1256G	probably benign	Het
Rsph4a	A	G	10: 33,912,992	Q611R	probably benign	Het
Sorl1	T	C	9: 41,980,645	D1903G	possibly damaging	Het
Tmem39b	A	T	4: 129,686,826	V291D	probably damaging	Het
Unc79	A	C	12: 103,079,048	K685Q	probably damaging	Het
Unc79	A	T	12: 103,079,049	K685I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r112	G	T	17: 22,603,469	S376I	possibly damaging	Het
Zfp850	A	T	7: 27,985,215	C35*	probably null	Het
Zfp974	A	G	7: 27,926,403	V14A	probably damaging	Het

Other mutations in Armc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02251:Armc6	APN	8	70225220	nonsense	probably null
IGL03090:Armc6	APN	8	70231354	missense	probably benign	0.00
R1449:Armc6	UTSW	8	70225293	missense	probably benign	0.01
R1557:Armc6	UTSW	8	70225448	missense	possibly damaging	0.75
R1689:Armc6	UTSW	8	70229537	missense	probably benign
R3054:Armc6	UTSW	8	70225149	missense	probably benign	0.12
R4368:Armc6	UTSW	8	70225293	missense	probably benign	0.01
R7726:Armc6	UTSW	8	70222598	missense	probably damaging	1.00
R8340:Armc6	UTSW	8	70220852	missense	probably damaging	1.00
X0022:Armc6	UTSW	8	70222542	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ACAGCACGTCACTACTGTG -3'
(R):5'- AGTGCCCTAAGTGCCCATTTC -3'

Sequencing Primer
(F):5'- ACAGCACGTCACTACTGTGTTAGG -3'
(R):5'- TGGTAGCAAGGCTTTACCCACAG -3'

Posted On

2018-07-23