Incidental Mutation 'IGL01894:Car13'
ID179343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Car13
Ensembl Gene ENSMUSG00000027555
Gene Namecarbonic anhydrase 13
Synonyms2310075C21Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01894
Quality Score
Status
Chromosome3
Chromosomal Location14641727-14663002 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14661465 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 227 (F227S)
Ref Sequence ENSEMBL: ENSMUSP00000029071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029071]
Predicted Effect probably damaging
Transcript: ENSMUST00000029071
AA Change: F227S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555
AA Change: F227S

DomainStartEndE-ValueType
Carb_anhydrase 6 261 1.91e-139 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 55,871,830 I530L probably benign Het
Adam3 T C 8: 24,687,938 D653G probably benign Het
Cdc27 T C 11: 104,526,921 N300S probably benign Het
Fat3 C T 9: 16,375,849 V793I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpa33 T A 1: 166,165,216 D299E probably benign Het
Kif5a C T 10: 127,262,779 V40I probably benign Het
Lama3 A G 18: 12,572,064 H1455R probably benign Het
Lamc1 T C 1: 153,247,082 K751E possibly damaging Het
Nek5 T A 8: 22,113,819 H114L probably damaging Het
Nipal1 G A 5: 72,663,539 A37T probably benign Het
Olfr1446 T C 19: 12,889,643 probably benign Het
Olfr1453 G T 19: 13,028,285 L15I probably damaging Het
Olfr538 T C 7: 140,574,770 Y206H possibly damaging Het
Pik3ca T C 3: 32,450,026 Y622H possibly damaging Het
Pknox2 G T 9: 36,923,742 H144N probably damaging Het
Ppp4r4 A G 12: 103,593,138 Y526C probably damaging Het
Prdm10 A G 9: 31,316,261 D54G probably damaging Het
Rpn2 C T 2: 157,294,173 T167I probably benign Het
Slc22a30 G T 19: 8,386,657 H218Q probably benign Het
Supt6 A G 11: 78,222,838 S878P probably benign Het
Tmem184c A T 8: 77,597,146 C362* probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wscd2 C T 5: 113,572,296 R294W probably damaging Het
Other mutations in Car13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Car13 APN 3 14656904 splice site probably benign
IGL03124:Car13 APN 3 14656940 missense possibly damaging 0.75
R0374:Car13 UTSW 3 14656297 splice site probably benign
R0396:Car13 UTSW 3 14656239 missense probably benign
R1087:Car13 UTSW 3 14641825 nonsense probably null
R1143:Car13 UTSW 3 14656268 missense probably benign
R1566:Car13 UTSW 3 14650698 missense probably benign 0.03
R1769:Car13 UTSW 3 14650735 missense probably benign
R1896:Car13 UTSW 3 14645175 missense probably benign 0.00
R4757:Car13 UTSW 3 14661555 missense probably damaging 1.00
R5645:Car13 UTSW 3 14645120 missense possibly damaging 0.89
R5699:Car13 UTSW 3 14650689 missense probably damaging 1.00
R5810:Car13 UTSW 3 14641768 utr 5 prime probably null
R7161:Car13 UTSW 3 14645208 missense probably benign
R7794:Car13 UTSW 3 14654888 missense probably damaging 1.00
RF002:Car13 UTSW 3 14654914 missense probably damaging 0.99
Posted On2014-05-07