Incidental Mutation 'IGL01617:Ceacam13'
ID92412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam13
Ensembl Gene ENSMUSG00000057195
Gene Namecarcinoembryonic antigen-related cell adhesion molecule 13
Synonyms1600025J19Rik, Ceacam13-C2, Ceacam13-C1, 1600012K03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01617
Quality Score
Status
Chromosome7
Chromosomal Location18009889-18019221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18011383 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 126 (D126V)
Ref Sequence ENSEMBL: ENSMUSP00000080404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081703] [ENSMUST00000108488]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081703
AA Change: D126V

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080404
Gene: ENSMUSG00000057195
AA Change: D126V

DomainStartEndE-ValueType
IG_like 40 143 1.37e1 SMART
IG_like 158 261 8.97e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108488
AA Change: D126V

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104128
Gene: ENSMUSG00000057195
AA Change: D126V

DomainStartEndE-ValueType
IG_like 40 143 1.37e1 SMART
IG_like 158 261 8.97e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Ceacam13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Ceacam13 APN 7 18013353 missense possibly damaging 0.59
IGL02948:Ceacam13 APN 7 18011063 splice site probably benign
R1508:Ceacam13 UTSW 7 18011071 missense possibly damaging 0.89
R3794:Ceacam13 UTSW 7 18013415 makesense probably null
R4882:Ceacam13 UTSW 7 18013072 missense probably benign 0.20
R6859:Ceacam13 UTSW 7 18013107 missense probably damaging 1.00
R8081:Ceacam13 UTSW 7 18013188 missense probably damaging 1.00
R8742:Ceacam13 UTSW 7 18010009 missense probably damaging 0.96
R8745:Ceacam13 UTSW 7 18010009 missense probably damaging 0.96
Posted On2013-12-09