Incidental Mutation 'IGL01617:Ceacam13'
ID 92412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ceacam13
Ensembl Gene ENSMUSG00000057195
Gene Name CEA cell adhesion molecule 13
Synonyms Ceacam13-C2, Ceacam13-C1, 1600025J19Rik, 1600012K03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01617
Quality Score
Status
Chromosome 7
Chromosomal Location 17743814-17753145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17745308 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DAT7
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: 23,115,149 (GRCm39) I160F possibly damaging Het
Cacna1d C T 14: 29,824,328 (GRCm39) A1030T probably damaging Het
Cep68 G T 11: 20,189,510 (GRCm39) Q501K probably benign Het
Cfhr1 A T 1: 139,481,417 (GRCm39) C154* probably null Het
Chd3 A G 11: 69,249,060 (GRCm39) probably benign Het
Chrna5 A G 9: 54,912,297 (GRCm39) M262V probably damaging Het
Csrnp2 T C 15: 100,382,524 (GRCm39) Y172C probably benign Het
Dzip1 G T 14: 119,118,477 (GRCm39) P752Q probably benign Het
Frem1 G A 4: 82,854,376 (GRCm39) T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 (GRCm39) S400N probably benign Het
Hmcn1 C T 1: 150,547,783 (GRCm39) A2723T probably benign Het
Htt A G 5: 35,034,099 (GRCm39) H1895R possibly damaging Het
Kif21a T C 15: 90,879,840 (GRCm39) probably benign Het
Mitf A G 6: 97,973,389 (GRCm39) I241V probably benign Het
Mterf1b A T 5: 4,246,503 (GRCm39) D48V probably benign Het
Nmbr G T 10: 14,646,173 (GRCm39) R349M probably benign Het
Pik3r4 T C 9: 105,532,164 (GRCm39) S579P probably benign Het
Polr2i T C 7: 29,931,817 (GRCm39) F16S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rgs11 A G 17: 26,427,224 (GRCm39) H385R probably damaging Het
Rufy4 G A 1: 74,168,513 (GRCm39) G99R probably damaging Het
Slc29a1 A G 17: 45,900,375 (GRCm39) F185S probably benign Het
Spag17 G A 3: 100,016,824 (GRCm39) V2200I possibly damaging Het
Trappc14 A T 5: 138,260,478 (GRCm39) L47Q probably damaging Het
Ttc7b G T 12: 100,352,215 (GRCm39) A414D possibly damaging Het
Ugt2b37 A T 5: 87,399,738 (GRCm39) W257R probably damaging Het
Ythdc2 A G 18: 44,974,482 (GRCm39) I381M possibly damaging Het
Other mutations in Ceacam13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00791:Ceacam13 APN 7 17,747,278 (GRCm39) missense possibly damaging 0.59
IGL02948:Ceacam13 APN 7 17,744,988 (GRCm39) splice site probably benign
R1508:Ceacam13 UTSW 7 17,744,996 (GRCm39) missense possibly damaging 0.89
R3794:Ceacam13 UTSW 7 17,747,340 (GRCm39) makesense probably null
R4882:Ceacam13 UTSW 7 17,746,997 (GRCm39) missense probably benign 0.20
R6859:Ceacam13 UTSW 7 17,747,032 (GRCm39) missense probably damaging 1.00
R8081:Ceacam13 UTSW 7 17,747,113 (GRCm39) missense probably damaging 1.00
R8742:Ceacam13 UTSW 7 17,743,934 (GRCm39) missense probably damaging 0.96
R8745:Ceacam13 UTSW 7 17,743,934 (GRCm39) missense probably damaging 0.96
R9471:Ceacam13 UTSW 7 17,753,012 (GRCm39) makesense probably null
R9473:Ceacam13 UTSW 7 17,747,281 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09