Incidental Mutation 'IGL03068:Ctnna1'
ID 409774
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 # IGL03068
Quality Score
Status
Chromosome 18
Chromosomal Location 35251955-35387829 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35382785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 644 (E644K)
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 possibly damaging
Transcript: ENSMUST00000042345
AA Change: E644K

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049007
Gene: ENSMUSG00000037815
AA Change: E644K

DomainStartEndE-ValueType
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,311,171 (GRCm39) L14P probably damaging Het
Ak2 G T 4: 128,901,819 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,246 (GRCm39) Y311C probably damaging Het
Arl9 C A 5: 77,155,225 (GRCm39) L119I possibly damaging Het
Atp1a1 T C 3: 101,491,175 (GRCm39) H620R probably benign Het
Cfap52 T C 11: 67,826,682 (GRCm39) D381G probably benign Het
Cngb3 T C 4: 19,375,246 (GRCm39) F292S possibly damaging Het
Comtd1 G A 14: 21,897,711 (GRCm39) R203C probably damaging Het
Crmp1 G T 5: 37,422,633 (GRCm39) A147S possibly damaging Het
Csmd3 T A 15: 47,710,517 (GRCm39) H1586L possibly damaging Het
Dock3 T C 9: 106,841,958 (GRCm39) D957G possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eefsec G T 6: 88,235,209 (GRCm39) Q576K probably benign Het
Efcab5 T A 11: 76,994,927 (GRCm39) I1215L probably benign Het
Etfa A T 9: 55,394,766 (GRCm39) D160E probably benign Het
Exoc7 G A 11: 116,191,960 (GRCm39) R197C possibly damaging Het
G6pc1 A G 11: 101,261,576 (GRCm39) D92G probably benign Het
Gm3182 T A 14: 4,483,921 (GRCm38) probably null Het
Gm4952 A G 19: 12,601,068 (GRCm39) N96S probably damaging Het
Gpr156 G A 16: 37,812,491 (GRCm39) V276M probably damaging Het
Irs2 A G 8: 11,054,974 (GRCm39) S1153P probably damaging Het
Kif21b T C 1: 136,086,093 (GRCm39) probably benign Het
Lmo7 A T 14: 102,112,928 (GRCm39) probably benign Het
Mapk4 G T 18: 74,103,415 (GRCm39) N31K probably damaging Het
Mccc2 T C 13: 100,100,319 (GRCm39) T357A probably damaging Het
Mpeg1 A G 19: 12,439,570 (GRCm39) T343A probably benign Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Pald1 T C 10: 61,156,963 (GRCm39) E829G possibly damaging Het
Pde11a A G 2: 75,848,208 (GRCm39) I873T probably damaging Het
Samd9l T A 6: 3,375,348 (GRCm39) K638* probably null Het
Sema4d A G 13: 51,862,922 (GRCm39) S479P probably damaging Het
Slc12a2 T C 18: 58,037,407 (GRCm39) probably benign Het
Slc47a2 T C 11: 61,194,769 (GRCm39) N470S probably damaging Het
Spag17 C T 3: 99,987,521 (GRCm39) P1604S probably benign Het
Taf8 C A 17: 47,812,290 (GRCm39) V39L probably damaging Het
Tlr11 A G 14: 50,598,941 (GRCm39) E309G probably benign Het
Tmem260 A G 14: 48,724,371 (GRCm39) probably benign Het
Tsc1 A T 2: 28,571,270 (GRCm39) K816M probably damaging Het
Ttc29 A G 8: 79,052,180 (GRCm39) I354V probably benign Het
Ttll3 A T 6: 113,386,158 (GRCm39) N665Y probably damaging Het
Ubr4 A G 4: 139,137,041 (GRCm39) T971A probably benign Het
Vmn2r96 T A 17: 18,803,137 (GRCm39) I349N probably benign Het
Vwa5a A G 9: 38,646,143 (GRCm39) T504A probably benign Het
Ythdf3 T A 3: 16,258,882 (GRCm39) V354E possibly damaging Het
Zan C A 5: 137,474,677 (GRCm39) G13V probably damaging Het
Other mutations in Ctnna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Ctnna1 APN 18 35,356,501 (GRCm39) missense probably damaging 0.97
IGL03286:Ctnna1 APN 18 35,308,206 (GRCm39) missense probably benign 0.37
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