Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Ctnna1'

415702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctnna1

Ensembl Gene

ENSMUSG00000037815

Gene Name

catenin alpha 1

Synonyms

Catna1, alpha E catenin, alpha(E)-catenin, catenin (cadherin associated protein), alpha 1, 2010010M04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

35251955-35387829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35308206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 175 (I175M)

Ref Sequence

ENSEMBL: ENSMUSP00000049007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042345]

AlphaFold

P26231

PDB Structure

CRYSTAL STRUCTURE OF THE ALPHA-CATENIN DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF A CHIMERA OF BETA-CATENIN AND ALPHA-CATENIN [X-RAY DIFFRACTION]
alpha-catenin fragment, residues 385-651 [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Alpha-E-catenin is an autoinhibited molecule that co-activates vinculin [X-RAY DIFFRACTION]
Crystal structure of full-length mouse alphaE-catenin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000042345
AA Change: I175M

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: I175M

Domain	Start	End	E-Value	Type
Pfam:Vinculin	19	339	2.6e-99	PFAM
Pfam:Vinculin	333	867	3.3e-218	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. A conditional knockout in surface epithelium results in defects in hair follicle development and epidermal morphogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,018,703 (GRCm39)	M141L	probably benign	Het

Other mutations in Ctnna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Ctnna1	APN	18	35,356,501 (GRCm39)	missense	probably damaging	0.97
IGL03068:Ctnna1	APN	18	35,382,785 (GRCm39)	missense	possibly damaging	0.66
PIT4458001:Ctnna1	UTSW	18	35,308,179 (GRCm39)	missense	possibly damaging	0.65
R0282:Ctnna1	UTSW	18	35,377,175 (GRCm39)	missense	possibly damaging	0.79
R1971:Ctnna1	UTSW	18	35,287,580 (GRCm39)	missense	probably benign
R2117:Ctnna1	UTSW	18	35,285,678 (GRCm39)	missense	possibly damaging	0.76
R2424:Ctnna1	UTSW	18	35,386,760 (GRCm39)	missense	probably benign	0.00
R4602:Ctnna1	UTSW	18	35,312,880 (GRCm39)	missense	possibly damaging	0.92
R4812:Ctnna1	UTSW	18	35,372,530 (GRCm39)	missense	probably damaging	1.00
R5120:Ctnna1	UTSW	18	35,315,607 (GRCm39)	critical splice donor site	probably null
R5469:Ctnna1	UTSW	18	35,372,573 (GRCm39)	missense	probably benign	0.00
R5607:Ctnna1	UTSW	18	35,382,795 (GRCm39)	missense	probably benign	0.25
R5629:Ctnna1	UTSW	18	35,382,802 (GRCm39)	missense	probably benign
R5824:Ctnna1	UTSW	18	35,312,939 (GRCm39)	missense	probably benign
R5971:Ctnna1	UTSW	18	35,287,567 (GRCm39)	missense	probably benign
R6191:Ctnna1	UTSW	18	35,307,408 (GRCm39)	missense	probably damaging	1.00
R7065:Ctnna1	UTSW	18	35,285,669 (GRCm39)	missense	probably benign
R7519:Ctnna1	UTSW	18	35,307,424 (GRCm39)	missense	probably benign	0.02
R7624:Ctnna1	UTSW	18	35,377,897 (GRCm39)	missense	probably benign	0.00
R7636:Ctnna1	UTSW	18	35,356,526 (GRCm39)	missense	possibly damaging	0.92
R8086:Ctnna1	UTSW	18	35,285,713 (GRCm39)	missense	possibly damaging	0.55
R8354:Ctnna1	UTSW	18	35,385,776 (GRCm39)	missense	possibly damaging	0.94
R8765:Ctnna1	UTSW	18	35,384,293 (GRCm39)	missense	probably damaging	0.97
R8889:Ctnna1	UTSW	18	35,372,586 (GRCm39)	missense	possibly damaging	0.46
R8892:Ctnna1	UTSW	18	35,372,586 (GRCm39)	missense	possibly damaging	0.46
R9246:Ctnna1	UTSW	18	35,356,562 (GRCm39)	missense	probably benign	0.00
U15987:Ctnna1	UTSW	18	35,287,567 (GRCm39)	missense	probably benign
X0021:Ctnna1	UTSW	18	35,315,598 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02