Incidental Mutation 'IGL00791:Ceacam13'
ID9580
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: 0.051) question?
Stock #IGL00791
Quality Score
Status
Chromosome7
Chromosomal Location18009889-18019221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18013353 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 244 (T244A)
Ref Sequence ENSEMBL: ENSMUSP00000080404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081703] [ENSMUST00000108488]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081703
AA Change: T244A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080404
Gene: ENSMUSG00000057195
AA Change: T244A

DomainStartEndE-ValueType
IG_like 40 143 1.37e1 SMART
IG_like 158 261 8.97e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108488
AA Change: T244A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104128
Gene: ENSMUSG00000057195
AA Change: T244A

DomainStartEndE-ValueType
IG_like 40 143 1.37e1 SMART
IG_like 158 261 8.97e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175466
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap2 A T 12: 21,239,648 M519L possibly damaging Het
Bbs7 T C 3: 36,575,287 *674W probably null Het
Cln8 T A 8: 14,894,689 M1K probably null Het
Cnot9 T C 1: 74,522,374 V126A probably benign Het
Enpep T C 3: 129,332,082 T134A possibly damaging Het
Fastkd5 C A 2: 130,616,377 A98S probably benign Het
Gsdmc A T 15: 63,804,435 I53N possibly damaging Het
Hexdc A G 11: 121,221,160 S427G probably benign Het
Lrrk2 T G 15: 91,779,841 L1927R probably damaging Het
Mia2 A G 12: 59,108,299 E267G possibly damaging Het
Plec A G 15: 76,172,937 S4132P probably damaging Het
Rtn3 A G 19: 7,435,069 L780P probably damaging Het
Serpinb9c A T 13: 33,151,884 V195E probably damaging Het
Slit2 T C 5: 48,304,032 Y1474H possibly damaging Het
Taf15 A G 11: 83,488,923 probably null Het
Tbc1d17 A G 7: 44,845,313 S194P probably benign Het
Tbc1d2b T C 9: 90,227,428 S332G probably benign Het
Tmpo A T 10: 91,162,558 S456T possibly damaging Het
Tubgcp2 A G 7: 140,001,498 L608P probably damaging Het
Zfp39 T A 11: 58,893,059 probably benign Het
Zfp935 A C 13: 62,454,464 N307K probably benign Het
Other mutations in Ceacam13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Ceacam13 APN 7 18011383 missense possibly damaging 0.53
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 On2012-12-06