Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00535:Armc3'

9056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Armc3

Ensembl Gene

ENSMUSG00000037683

Gene Name

armadillo repeat containing 3

Synonyms

4921513G22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL00535

Quality Score

Status

Chromosome

Chromosomal Location

19204113-19315052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19308669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 767 (E767G)

Ref Sequence

ENSEMBL: ENSMUSP00000048784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049255] [ENSMUST00000114640]

AlphaFold

A2AU72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049255
AA Change: E767G

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048784
Gene: ENSMUSG00000037683
AA Change: E767G

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
ARM	56	96	2.07e-2	SMART
ARM	97	138	9.84e1	SMART
ARM	139	179	7.86e-3	SMART
ARM	180	220	7.63e0	SMART
ARM	221	262	7.76e1	SMART
low complexity region	293	303	N/A	INTRINSIC
ARM	305	345	3.91e1	SMART
ARM	346	385	2.93e-2	SMART
ARM	387	427	7.74e-2	SMART
Blast:ARM	428	468	3e-11	BLAST
ARM	469	509	1.45e-1	SMART
low complexity region	544	557	N/A	INTRINSIC
low complexity region	583	595	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
low complexity region	675	696	N/A	INTRINSIC
Pfam:EDR1	723	857	3.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114640
AA Change: E779G

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000110287
Gene: ENSMUSG00000037683
AA Change: E779G

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
ARM	56	96	2.07e-2	SMART
ARM	97	138	9.84e1	SMART
ARM	139	179	7.86e-3	SMART
ARM	180	220	7.63e0	SMART
ARM	221	262	7.76e1	SMART
low complexity region	293	303	N/A	INTRINSIC
ARM	305	345	3.91e1	SMART
ARM	346	385	2.93e-2	SMART
ARM	387	427	7.74e-2	SMART
Blast:ARM	428	468	3e-11	BLAST
ARM	469	509	1.45e-1	SMART
Pfam:EDR1	549	868	1.4e-41	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	G	17: 79,935,328 (GRCm39)		probably benign	Het
Btaf1	A	T	19: 36,974,935 (GRCm39)	D1403V	probably damaging	Het
Chd2	C	A	7: 73,190,576 (GRCm39)	M2I	probably benign	Het
Cyp2r1	C	A	7: 114,151,061 (GRCm39)	M419I	probably benign	Het
Dnttip2	A	T	3: 122,078,148 (GRCm39)	R727W	probably damaging	Het
Gtf3c1	G	T	7: 125,243,325 (GRCm39)	H1760N	probably benign	Het
Iffo1	C	T	6: 125,137,516 (GRCm39)	A532V	probably damaging	Het
Ints6	T	C	14: 62,940,628 (GRCm39)	D574G	probably damaging	Het
Rims1	A	T	1: 22,503,172 (GRCm39)	S671T	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spam1	T	A	6: 24,796,722 (GRCm39)	Y224*	probably null	Het
Spata6l	T	A	19: 28,937,073 (GRCm39)		probably benign	Het
Spata7	A	C	12: 98,635,099 (GRCm39)	E345A	probably damaging	Het
Tbc1d32	A	G	10: 56,091,221 (GRCm39)		probably benign	Het
Tex28	T	C	X: 73,204,647 (GRCm39)	H215R	probably damaging	Het
Tmigd3	A	T	3: 105,824,384 (GRCm39)	R118*	probably null	Het
Wnk4	T	A	11: 101,155,175 (GRCm39)	M362K	probably damaging	Het

Other mutations in Armc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Armc3	APN	2	19,206,616 (GRCm39)	missense	possibly damaging	0.87
IGL01142:Armc3	APN	2	19,302,709 (GRCm39)	splice site	probably benign
IGL01556:Armc3	APN	2	19,273,957 (GRCm39)	missense	probably damaging	1.00
IGL02145:Armc3	APN	2	19,290,948 (GRCm39)	critical splice donor site	probably null
IGL02145:Armc3	APN	2	19,301,671 (GRCm39)	missense	possibly damaging	0.81
IGL02152:Armc3	APN	2	19,290,948 (GRCm39)	critical splice donor site	probably null
IGL02154:Armc3	APN	2	19,290,948 (GRCm39)	critical splice donor site	probably null
IGL02243:Armc3	APN	2	19,290,948 (GRCm39)	critical splice donor site	probably null
IGL02244:Armc3	APN	2	19,290,948 (GRCm39)	critical splice donor site	probably null
IGL02516:Armc3	APN	2	19,305,317 (GRCm39)	missense	possibly damaging	0.94
IGL02691:Armc3	APN	2	19,240,295 (GRCm39)	missense	probably damaging	1.00
IGL03151:Armc3	APN	2	19,243,509 (GRCm39)	missense	probably damaging	1.00
IGL03190:Armc3	APN	2	19,293,761 (GRCm39)	missense	probably damaging	0.99
IGL03288:Armc3	APN	2	19,240,293 (GRCm39)	missense	probably damaging	1.00
IGL03338:Armc3	APN	2	19,253,512 (GRCm39)	missense	possibly damaging	0.88
R0015:Armc3	UTSW	2	19,301,132 (GRCm39)	critical splice acceptor site	probably null
R0015:Armc3	UTSW	2	19,301,132 (GRCm39)	critical splice acceptor site	probably null
R0256:Armc3	UTSW	2	19,274,027 (GRCm39)	missense	probably damaging	1.00
R0621:Armc3	UTSW	2	19,300,204 (GRCm39)	missense	probably damaging	0.96
R1326:Armc3	UTSW	2	19,314,935 (GRCm39)	makesense	probably null
R1470:Armc3	UTSW	2	19,243,547 (GRCm39)	missense	probably benign
R1470:Armc3	UTSW	2	19,243,547 (GRCm39)	missense	probably benign
R1489:Armc3	UTSW	2	19,314,858 (GRCm39)	missense	probably benign	0.01
R1990:Armc3	UTSW	2	19,297,953 (GRCm39)	missense	probably damaging	0.97
R1991:Armc3	UTSW	2	19,297,953 (GRCm39)	missense	probably damaging	0.97
R1992:Armc3	UTSW	2	19,297,953 (GRCm39)	missense	probably damaging	0.97
R2002:Armc3	UTSW	2	19,293,747 (GRCm39)	missense	probably benign	0.01
R2095:Armc3	UTSW	2	19,293,740 (GRCm39)	missense	possibly damaging	0.65
R2127:Armc3	UTSW	2	19,206,622 (GRCm39)	missense	probably damaging	1.00
R2158:Armc3	UTSW	2	19,253,444 (GRCm39)	missense	probably damaging	0.99
R2697:Armc3	UTSW	2	19,308,746 (GRCm39)	missense	probably damaging	1.00
R3809:Armc3	UTSW	2	19,305,476 (GRCm39)	missense	probably damaging	1.00
R3897:Armc3	UTSW	2	19,273,988 (GRCm39)	missense	probably damaging	1.00
R4107:Armc3	UTSW	2	19,293,720 (GRCm39)	missense	probably benign	0.13
R4326:Armc3	UTSW	2	19,305,284 (GRCm39)	missense	probably damaging	0.97
R4464:Armc3	UTSW	2	19,253,470 (GRCm39)	missense	probably damaging	0.99
R4702:Armc3	UTSW	2	19,314,792 (GRCm39)	missense	probably damaging	1.00
R4923:Armc3	UTSW	2	19,297,791 (GRCm39)	critical splice acceptor site	probably null
R5370:Armc3	UTSW	2	19,290,873 (GRCm39)	missense	probably benign	0.00
R5518:Armc3	UTSW	2	19,302,739 (GRCm39)	missense	probably benign	0.28
R5718:Armc3	UTSW	2	19,308,610 (GRCm39)	nonsense	probably null
R5739:Armc3	UTSW	2	19,258,728 (GRCm39)	missense	possibly damaging	0.67
R5913:Armc3	UTSW	2	19,314,858 (GRCm39)	missense	possibly damaging	0.65
R6211:Armc3	UTSW	2	19,301,614 (GRCm39)	critical splice acceptor site	probably null
R6245:Armc3	UTSW	2	19,253,516 (GRCm39)	missense	probably damaging	1.00
R6841:Armc3	UTSW	2	19,206,630 (GRCm39)	splice site	probably null
R7003:Armc3	UTSW	2	19,274,839 (GRCm39)	missense	probably damaging	1.00
R7190:Armc3	UTSW	2	19,297,947 (GRCm39)	missense	probably damaging	1.00
R7499:Armc3	UTSW	2	19,290,790 (GRCm39)	missense	probably benign	0.03
R7738:Armc3	UTSW	2	19,293,761 (GRCm39)	missense	probably damaging	0.99
R7844:Armc3	UTSW	2	19,258,829 (GRCm39)	missense	possibly damaging	0.90
R7919:Armc3	UTSW	2	19,290,906 (GRCm39)	missense	probably benign	0.00
R8060:Armc3	UTSW	2	19,293,720 (GRCm39)	missense	probably benign	0.08
R8111:Armc3	UTSW	2	19,301,674 (GRCm39)	missense	probably benign
R8406:Armc3	UTSW	2	19,240,365 (GRCm39)	missense	probably damaging	0.98
R8485:Armc3	UTSW	2	19,297,945 (GRCm39)	missense	probably damaging	1.00
R8773:Armc3	UTSW	2	19,293,667 (GRCm39)	missense	probably benign	0.01
R8940:Armc3	UTSW	2	19,240,393 (GRCm39)	missense	probably damaging	1.00
R9441:Armc3	UTSW	2	19,253,426 (GRCm39)	missense	possibly damaging	0.89
Z1177:Armc3	UTSW	2	19,290,802 (GRCm39)	missense	probably benign

Posted On

2012-12-06