Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Armc6'

418345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armc6

Ensembl Gene

ENSMUSG00000002343

Gene Name

armadillo repeat containing 6

Synonyms

2410153K17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

70672822-70687099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70684004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 16 (R16Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116811 (fasta)

Gene Model

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

AlphaFold

Q8BNU0

Predicted Effect

probably benign
Transcript: ENSMUST00000019679
AA Change: R16Q

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

SMART Domains

Protein: ENSMUSP00000019679
Gene: ENSMUSG00000002343
AA Change: R16Q

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 benign
Transcript: ENSMUST00000130319
AA Change: R16Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116811
Gene: ENSMUSG00000002343
AA Change: R16Q

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

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,247,965 (GRCm39)	Y25C	probably benign	Het
Agap3	A	C	5: 24,706,204 (GRCm39)	T823P	possibly damaging	Het
Arap3	T	C	18: 38,122,165 (GRCm39)	E641G	probably benign	Het
Asb15	T	A	6: 24,567,185 (GRCm39)	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,366,438 (GRCm39)	N275I	probably damaging	Het
Calr	G	A	8: 85,573,373 (GRCm39)	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,810,122 (GRCm39)	L477*	probably null	Het
Clba1	T	C	12: 112,779,340 (GRCm39)		probably null	Het
Cnnm4	A	G	1: 36,510,952 (GRCm39)	D60G	probably benign	Het
Col12a1	G	T	9: 79,585,652 (GRCm39)	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,847,466 (GRCm39)	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,795,543 (GRCm39)	T69A	probably damaging	Het
Efhb	T	C	17: 53,769,958 (GRCm39)	Q117R	probably benign	Het
Fancd2	T	A	6: 113,514,558 (GRCm39)		probably null	Het
Fat3	C	T	9: 16,288,535 (GRCm39)	W329*	probably null	Het
Frem3	A	G	8: 81,344,858 (GRCm39)	Y1727C	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gatb	C	A	3: 85,526,330 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,809 (GRCm39)	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,802,463 (GRCm39)	D649E	probably benign	Het
Herc2	T	A	7: 55,854,221 (GRCm39)	L3745H	probably damaging	Het
Klk1b11	T	A	7: 43,426,977 (GRCm39)	M87K	probably benign	Het
Krt39	T	G	11: 99,409,833 (GRCm39)		probably benign	Het
Lamc3	T	A	2: 31,798,710 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,285,025 (GRCm39)	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,287,460 (GRCm39)	S49T	probably benign	Het
Lrba	T	C	3: 86,680,448 (GRCm39)	Y2689H	probably benign	Het
Map3k6	T	C	4: 132,970,677 (GRCm39)	V188A	probably benign	Het
Mbd6	A	C	10: 127,123,013 (GRCm39)	L49W	probably damaging	Het
Myo5a	A	T	9: 75,028,115 (GRCm39)	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,801,418 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,538,396 (GRCm39)	D663G	probably damaging	Het
Nup214	A	T	2: 31,908,254 (GRCm39)	M1075L	probably benign	Het
Pkd1l3	C	A	8: 110,382,165 (GRCm39)	Y240*	probably null	Het
Pomk	T	A	8: 26,473,338 (GRCm39)	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575 (GRCm39)		probably benign	Het
Setd1a	A	G	7: 127,385,672 (GRCm39)	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,737,890 (GRCm39)	E541G	probably benign	Het
Slc4a3	A	G	1: 75,531,661 (GRCm39)	E876G	probably benign	Het
Srrm4	A	G	5: 116,587,643 (GRCm39)		probably benign	Het
Stx12	A	G	4: 132,590,540 (GRCm39)	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721 (GRCm39)	S333T	probably damaging	Het
Usp31	T	C	7: 121,278,753 (GRCm39)		probably benign	Het
Utp18	T	C	11: 93,759,245 (GRCm39)	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,359,463 (GRCm39)	I116T	probably damaging	Het
Vwa8	T	A	14: 79,172,041 (GRCm39)	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 102,014,142 (GRCm39)	F2655I	probably damaging	Het
Zfp423	A	T	8: 88,508,071 (GRCm39)	Y737N	probably damaging	Het
Zyx	C	A	6: 42,334,276 (GRCm39)	S500*	probably null	Het

Other mutations in Armc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02251:Armc6	APN	8	70,677,870 (GRCm39)	nonsense	probably null
R1449:Armc6	UTSW	8	70,677,943 (GRCm39)	missense	probably benign	0.01
R1557:Armc6	UTSW	8	70,678,098 (GRCm39)	missense	possibly damaging	0.75
R1689:Armc6	UTSW	8	70,682,187 (GRCm39)	missense	probably benign
R3054:Armc6	UTSW	8	70,677,799 (GRCm39)	missense	probably benign	0.12
R4368:Armc6	UTSW	8	70,677,943 (GRCm39)	missense	probably benign	0.01
R6654:Armc6	UTSW	8	70,684,025 (GRCm39)	missense	probably damaging	0.99
R7726:Armc6	UTSW	8	70,675,248 (GRCm39)	missense	probably damaging	1.00
R8340:Armc6	UTSW	8	70,673,502 (GRCm39)	missense	probably damaging	1.00
X0022:Armc6	UTSW	8	70,675,192 (GRCm39)	missense	probably benign	0.20

Posted On

2016-08-02